General Information of Disease (ID: DISM5BB5)

Disease Name Chromosomal disorder
Synonyms
chromosome abnormality disorders; chromosome disorders, autosomal; disorder, chromosome abnormality; chromosome disorder, autosomal; chromosome abnormality disorder; autosomal chromosome disorder; autosomal chromosome disorders; disorders, chromosome; chromosomal disorder; chromosome disorder; disorders, chromosomal; disorder, chromosomal; disorder, chromosome; chromosomal disease; chromosomal disorders
Definition
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Disease Hierarchy
DISH7H5I: Human disease
DISM5BB5: Chromosomal disorder
Disease Identifiers
MONDO ID
MONDO_0019040
MESH ID
D025063
UMLS CUI
C0008626
MedGen ID
3441
Orphanet ID
68335
SNOMED CT ID
409709004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 86 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AFP TTCFEA1 Limited Biomarker [1]
BMP1 TT0L58T Limited Biomarker [2]
BRCA2 TTUARD6 Limited Biomarker [3]
CA13 TTQPHSR Limited Biomarker [4]
CD33 TTJVYO3 Limited Genetic Variation [5]
CD34 TTZAVYN Limited Biomarker [6]
CD38 TTPURFN Limited Biomarker [7]
CD6 TTMF6KC Limited Biomarker [8]
CGA TTFC29G Limited Genetic Variation [9]
CGB3 TTUH273 Limited Genetic Variation [9]
DLL1 TT9CFQD Limited Genetic Variation [10]
MTR TTUTO39 Limited Genetic Variation [11]
MYCN TT9JBY5 Limited Biomarker [12]
NCAM1 TTVXPHT Limited Altered Expression [13]
NCOA3 TT124R0 Limited Genetic Variation [14]
PGD TTZ3IFB Limited Genetic Variation [15]
PSMB6 TT8EPLT Limited Genetic Variation [10]
RAD51 TTC0G1L Limited Genetic Variation [16]
REL TT1ZCTH Limited Genetic Variation [17]
SF3B1 TTL2WUI Limited Genetic Variation [18]
SLCO2A1 TTKVTQO Limited Biomarker [19]
SPTBN1 TTS9BDA Limited Biomarker [20]
SYVN1 TT8XKYM Limited Genetic Variation [21]
TCL1A TTUKRDV Limited Genetic Variation [22]
TMPRSS2 TT1GM2Z Limited Biomarker [23]
BIRC3 TTAIWZN moderate Genetic Variation [18]
SLC1A1 TTG2A6F moderate Genetic Variation [24]
TPH2 TT3KLDP moderate Genetic Variation [24]
ABCB4 TTJUXV6 Strong Altered Expression [25]
ADAM9 TTTYQNS Strong Altered Expression [26]
ALK TTPMQSO Strong Genetic Variation [27]
ATRAID TTFLIKM Strong Biomarker [28]
AVPR2 TTK8R02 Strong Biomarker [29]
BRIP1 TTZV7LJ Strong Biomarker [30]
CBL TT7QT13 Strong Genetic Variation [31]
CD22 TTM6QSK Strong Biomarker [32]
CD79B TTBN5I7 Strong Biomarker [33]
CDKN2C TTBRUGA Strong Biomarker [28]
CRLF1 TT6YF5K Strong Biomarker [34]
CSF3R TTC70AJ Strong Genetic Variation [35]
CYP2E1 TTWVHQ5 Strong Genetic Variation [36]
EYA2 TTUY9C6 Strong Biomarker [37]
FCER2 TTCH6MU Strong Altered Expression [38]
FCGR2B TT5RWKQ Strong Genetic Variation [39]
GNAQ TTL1SRG Strong Genetic Variation [40]
GPR17 TTMPART Strong Biomarker [41]
GPR35 TT254XD Strong Genetic Variation [42]
HOXA5 TTXSVQP Strong Altered Expression [43]
ITGA4 TTJMF9P Strong Altered Expression [44]
KAT6B TTH4VJL Strong Biomarker [45]
LILRB4 TTREOKA Strong Altered Expression [46]
LMO2 TTFX379 Strong Genetic Variation [47]
MALT1 TTCI81G Strong Genetic Variation [48]
MAP3K20 TTTUZ3O Strong Genetic Variation [49]
MAP3K3 TTJZNIG Strong Biomarker [50]
MKI67 TTB4UNG Strong Biomarker [51]
MLANA TT362RB Strong Biomarker [52]
MTTP TTUS1RD Strong Genetic Variation [53]
MVD TTE5J6X Strong Genetic Variation [54]
OPRD1 TT27RFC Strong Biomarker [55]
OTC TT5KIO9 Strong Biomarker [56]
PDPK1 TTYMGWX Strong Altered Expression [57]
PDXK TTXI3KF Strong Genetic Variation [58]
PML TTLH9NY Strong Genetic Variation [59]
POLB TTA0XPV Strong Altered Expression [60]
PRCP TTTJZ4M Strong Biomarker [2]
RARA TTW38KT Strong Biomarker [59]
RPS6KA3 TTUM2ZR Strong Genetic Variation [61]
SORD TTLSRBZ Strong Genetic Variation [62]
TBL1XR1 TTYXT16 Strong Biomarker [63]
TENT4A TT0XZ4Q Strong Biomarker [64]
TNFRSF8 TT2GM5R Strong Altered Expression [65]
TP53BP1 TTX4UE9 Strong Biomarker [66]
TPP2 TTQ7R2V Strong Altered Expression [67]
USP1 TTG9MT5 Strong Biomarker [68]
VIPR1 TTCL30I Strong Biomarker [69]
XPA TTGT87E Strong Altered Expression [70]
XRCC5 TTCB9KW Strong Biomarker [71]
ZWINT TTWY768 Strong Biomarker [72]
AICDA TTKRTP6 Definitive Altered Expression [73]
CD19 TTW640A Definitive Biomarker [74]
KAT6A TT6O1J0 Definitive Genetic Variation [75]
LAIR1 TTSI7A8 Definitive Altered Expression [76]
OPRM1 TTKWM86 Definitive Biomarker [77]
SHH TTIENCJ Definitive Genetic Variation [78]
WRN TT2H5WQ Definitive Biomarker [79]
------------------------------------------------------------------------------------
⏷ Show the Full List of 86 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A10 DTJYKDQ Strong Biomarker [80]
------------------------------------------------------------------------------------
This Disease Is Related to 10 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CHDH DEAHED0 Limited Biomarker [81]
CYP1A1 DE6OQ3W Limited Genetic Variation [82]
NAT1 DE7OAB3 Limited Genetic Variation [83]
EPHX1 DELB4KP moderate Genetic Variation [11]
GSTO2 DEHMPZR Strong Biomarker [71]
NAT10 DEZV4AP Strong Altered Expression [84]
NAT2 DER7TA0 Strong Biomarker [11]
PGPEP1 DEVDR46 Strong Biomarker [2]
PNPO DE3Z1RA Strong Biomarker [85]
SULT1A2 DERUZL7 Strong Genetic Variation [86]
------------------------------------------------------------------------------------
⏷ Show the Full List of 10 DME(s)
This Disease Is Related to 231 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACD OTC54EPO Limited Biomarker [87]
BCL3 OT1M5B95 Limited Genetic Variation [88]
BRCA1 OT5BN6VH Limited Altered Expression [89]
CD99 OTPUZ5DE Limited Genetic Variation [90]
CDKN2B OTAG24N1 Limited Posttranslational Modification [91]
CHD7 OTHNIZWZ Limited Biomarker [92]
CRYGD OTW29JC4 Limited Genetic Variation [93]
DERL3 OTRZRT6Q Limited Genetic Variation [21]
DLX5 OTEEFBEU Limited Genetic Variation [94]
EFS OT06O7XL Limited Biomarker [95]
ERCC1 OTNPYQHI Limited Biomarker [96]
ERCC4 OTFIOPG1 Limited Biomarker [96]
ETV6 OTCZMG61 Limited Genetic Variation [97]
EVPL OTZIAFEK Limited Biomarker [98]
EXT1 OTRPALJK Limited Genetic Variation [99]
H2AX OT18UX57 Limited Biomarker [100]
HOXA9 OTKNK5H0 Limited Altered Expression [101]
IL3 OT0CQ35N Limited Biomarker [102]
INTS1 OT7TY1M1 Limited Genetic Variation [103]
JAZF1 OTXTYSYD Limited Genetic Variation [104]
LBR OT1HG3HG Limited Biomarker [105]
LIG4 OT40DNXU Limited Biomarker [106]
MCPH1 OTYT3TT5 Limited Biomarker [107]
MED19 OTT9RT5N Limited Biomarker [108]
MLLT10 OTURMDV7 Limited Biomarker [109]
MSC OTBRPZL5 Limited Biomarker [110]
MUS81 OTVZ4E60 Limited Biomarker [111]
MYH11 OTVNVWY3 Limited Biomarker [112]
NUP214 OTWEA19O Limited Biomarker [113]
PAPPA OTTTG9PG Limited Genetic Variation [114]
PBX1 OTORABGO Limited Biomarker [115]
PDLIM7 OTAZVODU Limited Altered Expression [116]
POT1 OTNBXJCQ Limited Biomarker [117]
PTTG1IP OTX21QTE Limited Altered Expression [118]
RAD51C OTUD6SY5 Limited Biomarker [119]
REV1 OTHIKICX Limited Biomarker [120]
S100A11 OTI57KDN Limited Biomarker [121]
SARDH OTQ49Q27 Limited Biomarker [122]
SDS OT5WTJ2M Limited Biomarker [123]
SHOX OTE0YZJO Limited Biomarker [124]
SLITRK1 OT1QQ7FR Limited Genetic Variation [125]
SUV39H2 OTU0F4LL Limited Altered Expression [126]
TLX3 OTBUHHK3 Limited Genetic Variation [127]
TNFRSF10D OTOSRDJT Limited Altered Expression [128]
TOPBP1 OT6UPZPD Limited Biomarker [129]
MEIS1 OTH9DKAD Disputed Altered Expression [43]
ACP1 OTJ9CKLU moderate Genetic Variation [130]
NCAPH OTXOS97C moderate Biomarker [131]
SGCE OT9F17JB moderate Genetic Variation [24]
TAL1 OTX4K6QZ moderate Genetic Variation [127]
TBC1D9 OTSSCTB5 moderate Altered Expression [25]
A2ML1 OTWNUXIS Strong Altered Expression [132]
ABCA13 OTTHTUQN Strong Genetic Variation [133]
ACSL4 OTI71MUJ Strong Genetic Variation [134]
ADAM12 OTZKOTDB Strong Biomarker [135]
ANOS1 OTZJT4KN Strong Genetic Variation [136]
ARSD OTAHW9M8 Strong Genetic Variation [137]
ATRNL1 OTY5JUX2 Strong Altered Expression [84]
AZIN2 OT8OB7CG Strong Genetic Variation [138]
BAALC OTUZSRVF Strong Genetic Variation [139]
BCL7A OTYFUJTP Strong Genetic Variation [140]
BCS1L OT5PY5CY Strong Biomarker [141]
BLM OTEJOAJX Strong Biomarker [142]
BRAP OTB7BAFQ Strong Biomarker [143]
CBFA2T3 OTOJ10S1 Strong Genetic Variation [144]
CBFB OTIAC6W4 Strong Biomarker [112]
CBX2 OTOQ5WS4 Strong Genetic Variation [145]
CCDC6 OTXRQDYG Strong Genetic Variation [146]
CCNO OT68CH0B Strong Genetic Variation [147]
CDT1 OTVY53VG Strong Biomarker [148]
CENPS OTZ4J391 Strong Altered Expression [149]
CHD1L OT7CZK7C Strong Biomarker [150]
CHORDC1 OT3W6F1U Strong Biomarker [151]
CKS1B OTNUPLUJ Strong Biomarker [152]
CLTA OTLHOXMQ Strong Genetic Variation [153]
COIL OTP4I4DL Strong Genetic Variation [154]
CSH1 OT33HTRR Strong Biomarker [155]
CSH2 OTW8JVAN Strong Biomarker [155]
DCLRE1B OT2LFW7A Strong Biomarker [156]
DCT OTYVNTBG Strong Biomarker [157]
DDB2 OTO8HVVB Strong Altered Expression [158]
DERL1 OTJUS74N Strong Biomarker [159]
DIS3 OT7UPHJS Strong Genetic Variation [160]
DIS3L2 OTWABM04 Strong Biomarker [161]
DMBT1 OTVNU9D9 Strong Biomarker [162]
DOCK1 OTCFV3ON Strong Biomarker [163]
E2F7 OTWW358N Strong Biomarker [66]
ECD OT3L3PCU Strong Biomarker [164]
EEF1E1 OTRA6XOB Strong Biomarker [28]
EEPD1 OTTOGO05 Strong Biomarker [165]
ELF5 OTLRU8YF Strong Altered Expression [50]
ERCC2 OT1C8HQ4 Strong Genetic Variation [166]
ERCC8 OT0T4WKI Strong Biomarker [155]
ESPL1 OTMGEVOK Strong Altered Expression [167]
ETAA1 OTHFX32I Strong Biomarker [168]
EWSR1 OT7SRHV3 Strong Biomarker [169]
EXT2 OT8IR5QN Strong Genetic Variation [99]
FANCC OTTIDM3P Strong Biomarker [170]
FANCD2 OTVEB5LF Strong Genetic Variation [66]
FANCG OT7MC8TZ Strong Biomarker [171]
FANCI OTW8E3SC Strong Biomarker [156]
FOXL2 OTFRQUYL Strong Genetic Variation [172]
FOXN3 OTOJYJZP Strong Genetic Variation [173]
GABRB3 OT80C3D4 Strong Genetic Variation [174]
GADD45G OT8V1J4M Strong Biomarker [175]
GADL1 OTJM4A0R Strong Genetic Variation [138]
GSTM2 OTG4WT05 Strong Biomarker [71]
GYPA OTABU4YV Strong Genetic Variation [176]
H2AZ2 OT0I5H2P Strong Biomarker [177]
H3-3B OT9XHQ3C Strong Genetic Variation [178]
HACD1 OTEC7EP7 Strong Biomarker [179]
HAND2 OTCXYW4Y Strong Biomarker [180]
HERPUD1 OT9EROL6 Strong Biomarker [181]
HHLA1 OT09MBQS Strong Genetic Variation [182]
HLTF OTRX2OSF Strong Altered Expression [183]
HOXA1 OTMSOJ7D Strong Genetic Variation [184]
HOXA4 OTNVTQDT Strong Altered Expression [43]
ID3 OTUULW5Z Strong Genetic Variation [185]
IL1RAPL1 OTW3T4B2 Strong Genetic Variation [186]
IMPA1 OTBUVW1Z Strong Biomarker [143]
INO80 OTJBMS8T Strong Biomarker [187]
KCNRG OTXHYFOD Strong Genetic Variation [188]
KLLN OTV3FPH0 Strong Biomarker [189]
KMT2E OTYOLNOG Strong Genetic Variation [190]
KNTC1 OTI2OOFN Strong Biomarker [191]
LAMA1 OTQZMP86 Strong Biomarker [192]
LAMTOR1 OTIBJBW9 Strong Biomarker [28]
LDHB OT9B1CT3 Strong Altered Expression [193]
LHFPL6 OTY6LHJY Strong Biomarker [194]
LRMDA OTIPNKTU Strong Genetic Variation [195]
LSAMP OTYXVQX2 Strong Biomarker [196]
LUC7L3 OTKDED8A Strong Biomarker [197]
LYL1 OTCNOV1M Strong Altered Expression [198]
MAD2L1 OTXNGZCG Strong Genetic Variation [72]
MAD2L2 OT24ZO59 Strong Biomarker [199]
MAFK OTZJUE4P Strong Biomarker [28]
MBTD1 OT2P6943 Strong Biomarker [104]
MBTPS2 OT67CC7W Strong Biomarker [200]
MIB1 OT5C404P Strong Biomarker [51]
MKKS OTLF5T11 Strong Genetic Variation [136]
MLLT11 OTG5RVHC Strong Biomarker [201]
MLLT3 OTXH4DDG Strong Genetic Variation [202]
MN1 OTVQR4R9 Strong Genetic Variation [97]
MNDA OTCTKR47 Strong Biomarker [203]
MOGS OT99MBGB Strong Genetic Variation [204]
MOS OTNMQPFJ Strong Genetic Variation [205]
MPG OTAHW80B Strong Altered Expression [60]
MTMR11 OTHL2O08 Strong Biomarker [197]
MYL4 OTURFCSE Strong Biomarker [150]
MYOM2 OTD2UOXW Strong Biomarker [206]
NKAIN2 OTI4H30Z Strong Biomarker [207]
NRXN1 OTJN1JQA Strong Genetic Variation [208]
NSD2 OTQ6SW4R Strong Altered Expression [209]
NTHL1 OTPQXPT1 Strong Genetic Variation [210]
NUP54 OTHOIRMG Strong Biomarker [211]
OCA2 OTDWIGBF Strong Altered Expression [212]
OCM OTQRML29 Strong Biomarker [213]
PCNT OTW4Z65J Strong Biomarker [214]
PDHA1 OTGEU8IK Strong Genetic Variation [215]
PDLIM3 OTVXQC81 Strong Altered Expression [84]
PGP OT6QQ7OR Strong Biomarker [216]
PICALM OTQVRPMQ Strong Genetic Variation [217]
PIEZO1 OTBG1FU4 Strong Biomarker [218]
PIGA OT51UWUR Strong Genetic Variation [219]
PIWIL1 OT7CRGZ3 Strong Biomarker [220]
PIWIL4 OTDA9MY0 Strong Biomarker [220]
PKNOX1 OTUDMNHX Strong Biomarker [221]
PLAG1 OTT9AJQY Strong Biomarker [222]
PLSCR1 OTGY9B5T Strong Altered Expression [223]
POC1A OTXAG4PL Strong Genetic Variation [224]
POLD3 OTEQEFQ2 Strong Biomarker [225]
POLK OTKZ38JH Strong Biomarker [64]
POLL OTZ24QGM Strong Biomarker [64]
POU3F2 OT30NFOC Strong Genetic Variation [226]
POU4F1 OTMHYGWQ Strong Biomarker [69]
PTPRD OTZPJ3GX Strong Altered Expression [227]
RAD54B OTMWB2P2 Strong Genetic Variation [228]
RAD9A OTJ3AJQU Strong Biomarker [229]
RALGAPB OTY8CGA3 Strong Altered Expression [132]
RANBP2 OTFG5CVF Strong Biomarker [157]
RFX5 OT73KJ5P Strong Genetic Variation [230]
RGS22 OTCTFGW6 Strong Biomarker [231]
RHOJ OTWI65OA Strong Biomarker [232]
RNASEH1 OTT7L25X Strong Biomarker [233]
RNF115 OT35B6L5 Strong Biomarker [234]
RPS14 OTB90KV5 Strong Biomarker [235]
RPS18 OTFO45UM Strong Genetic Variation [236]
RRAD OTW2O4GD Strong Biomarker [237]
RREB1 OT62460U Strong Biomarker [238]
RTL1 OTOT33IM Strong Biomarker [52]
RUNX1T1 OT30DED5 Strong Genetic Variation [239]
SDHB OTRE1M1T Strong Genetic Variation [62]
SEC61A1 OTLBE3CB Strong Genetic Variation [240]
SEM1 OTASLBM1 Strong Biomarker [241]
SERPINB6 OT7G55IK Strong Biomarker [179]
SETBP1 OTKGCOSR Strong Genetic Variation [35]
SLX4 OTF6236I Strong Genetic Variation [242]
SMARCAL1 OTTKXLUZ Strong Biomarker [243]
SMU1 OTLCSLGL Strong Genetic Variation [244]
SNAP91 OTE3EXWZ Strong Genetic Variation [217]
SORBS1 OTWH8762 Strong Biomarker [179]
SOX9 OTVDJFGN Strong Biomarker [245]
SPOP OTP0107S Strong Genetic Variation [246]
SRL OT7IEBWZ Strong Biomarker [122]
SS18 OTDKHN1E Strong Genetic Variation [247]
SSX2 OT2Z6RLL Strong Genetic Variation [247]
TAF15 OTNE038N Strong Genetic Variation [248]
TAS2R38 OTX5MM36 Strong Genetic Variation [146]
TBX1 OTQLBPRA Strong Biomarker [249]
TCL1B OT4CSO39 Strong Genetic Variation [22]
TLE4 OT4QEH6T Strong Altered Expression [250]
TLX1 OTVN0MNW Strong Genetic Variation [127]
TNS3 OTPG2D8Z Strong Biomarker [50]
TPPP2 OTI3WA6X Strong Biomarker [28]
TREH OTJE0NOY Strong Altered Expression [251]
CDC42EP1 OTT525WA Definitive Genetic Variation [252]
CNTRL OTQI3VBA Definitive Genetic Variation [252]
EDIL3 OTDVVNS0 Definitive Genetic Variation [253]
ERCC5 OTQAKFJM Definitive Genetic Variation [166]
FMR1 OTWEV0T5 Definitive Biomarker [254]
MRPL28 OT4LUTZU Definitive Genetic Variation [255]
NBN OT73B5MD Definitive Genetic Variation [256]
NLN OTFRITPU Definitive Biomarker [77]
NLRP2 OTJA81JU Definitive Genetic Variation [256]
NUP98 OTNT12G2 Definitive Biomarker [257]
NXT1 OT0VO6AY Definitive Genetic Variation [255]
OPN4 OT1LZ7TS Definitive Biomarker [77]
PRAM1 OTZN3DWD Definitive Altered Expression [258]
PRKAG2 OTHTAM54 Definitive Genetic Variation [259]
SMYD5 OTE5VET6 Definitive Biomarker [260]
SUB1 OTK71JYU Definitive Genetic Variation [255]
------------------------------------------------------------------------------------
⏷ Show the Full List of 231 DOT(s)

References

1 First trimester maternal serum AFP and total hCG in aneuploidies other than trisomy 21.Prenat Diagn. 2000 Aug;20(8):635-9. doi: 10.1002/1097-0223(200008)20:8<635::aid-pd868>3.0.co;2-u.
2 Genomic Alterations of Adamantinomatous and Papillary Craniopharyngioma.J Neuropathol Exp Neurol. 2017 Feb 1;76(2):126-134. doi: 10.1093/jnen/nlw116.
3 Co-inhibition of pol and HR genes efficiently synergize with cisplatin to suppress cisplatin-resistant lung cancer cells survival.Oncotarget. 2016 Oct 4;7(40):65157-65170. doi: 10.18632/oncotarget.11214.
4 Continuous absence of metaphase-defined cytogenetic abnormalities, especially of chromosome 13 and hypodiploidy, ensures long-term survival in multiple myeloma treated with Total Therapy I: interpretation in the context of global gene expression.Blood. 2003 May 15;101(10):3849-56. doi: 10.1182/blood-2002-09-2873. Epub 2003 Jan 16.
5 Acute myelogenous leukemia with t(8;21)--identification of a specific immunophenotype.Leuk Lymphoma. 2003 Oct;44(10):1713-8. doi: 10.1080/1042819031000116698.
6 Network analysis of reverse phase protein expression data: characterizing protein signatures in acute myeloid leukemia cytogenetic categories t(8;21) and inv(16).Proteomics. 2012 Jul;12(13):2084-93. doi: 10.1002/pmic.201100491.
7 Biomarkers in chronic lymphocytic leukemia: Clinical applications and prognostic markers.Best Pract Res Clin Haematol. 2016 Mar;29(1):79-89. doi: 10.1016/j.beha.2016.08.005. Epub 2016 Aug 10.
8 Characterization of a novel acquired der(1)del(1)(p13p31)t(1;15)(q42;q15) in a high risk t(12;21)-positive acute lymphoblastic leukemia.Gene. 2016 Dec 20;595(1):39-48. doi: 10.1016/j.gene.2016.09.030. Epub 2016 Sep 21.
9 Usefulness and reliability of cell free fetal DNA screening for main trisomies in case of atypical profile on first trimester maternal serum screening.J Transl Med. 2019 Nov 28;17(1):398. doi: 10.1186/s12967-019-02152-7.
10 Acute T-lymphocytic leukemia with Ph1 and 5q-chromosome abnormalities and rearrangements of bcr and TCR-delta genes.Leuk Res. 1990;14(10):885-93. doi: 10.1016/0145-2126(90)90178-c.
11 Influence of GSTM1, GSTT1, GSTP1, NAT1, NAT2, EPHX1, MTR and MTHFR polymorphism on chromosomal aberration frequencies in human lymphocytes.Carcinogenesis. 2011 Mar;32(3):399-405. doi: 10.1093/carcin/bgq246. Epub 2010 Nov 19.
12 Diagnostic ultrasound-guided cutting needle biopsies in neuroblastoma: A safe and efficient procedure.J Pediatr Surg. 2019 Jun;54(6):1253-1256. doi: 10.1016/j.jpedsurg.2018.12.023. Epub 2019 Jan 4.
13 Recurrent extramedullary relapse of acute myelogenous leukemia after allogeneic hematopoietic stem cell transplantation in a patient with the chromosomal abnormality t(8;21) and CD56-positivity.Int J Hematol. 2009 Oct;90(3):374-377. doi: 10.1007/s12185-009-0385-3. Epub 2009 Jul 24.
14 A comparative study of genome-wide SNP, CGH microarray and protein expression analysis to explore genotypic and phenotypic mechanisms of acquired antiestrogen resistance in breast cancer.Breast Cancer Res Treat. 2008 Sep;111(1):55-63. doi: 10.1007/s10549-007-9758-6. Epub 2007 Sep 28.
15 Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD.Hum Reprod. 2015 Feb;30(2):484-9. doi: 10.1093/humrep/deu314. Epub 2014 Nov 28.
16 Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.
17 High resolution SNP array genomic profiling of peripheral T cell lymphomas, not otherwise specified, identifies a subgroup with chromosomal aberrations affecting the REL locus.Br J Haematol. 2010 Feb;148(3):402-12. doi: 10.1111/j.1365-2141.2009.07956.x. Epub 2009 Oct 22.
18 Distinct immunoglobulin heavy chain variable region gene repertoire and lower frequency of del(11q) in Taiwanese patients with chronic lymphocytic leukaemia.Br J Haematol. 2019 Oct;187(1):82-92. doi: 10.1111/bjh.16051. Epub 2019 Jun 23.
19 The application of PGT-A for carriers of balanced structural chromosomal rearrangements.Gynecol Endocrinol. 2019;35(sup1):18-23. doi: 10.1080/09513590.2019.1632091.
20 Genetic damage in mammalian somatic cells exposed to extremely low frequency electro-magnetic fields: a meta-analysis of data from 87 publications (1990-2007).Int J Radiat Biol. 2009 Mar;85(3):196-213. doi: 10.1080/09553000902748575.
21 Molecular cytogenetic characteristics of the human hepatocellular carcinoma cell line HCCLM3 with high metastatic potential: comparative genomic hybridization and multiplex fluorescence in situ hybridization.Cancer Genet Cytogenet. 2005 Apr 15;158(2):180-3. doi: 10.1016/j.cancergencyto.2004.05.010.
22 Prognostic significance of cytogenetic abnormalities in T-cell prolymphocytic leukemia.Am J Hematol. 2017 May;92(5):441-447. doi: 10.1002/ajh.24679. Epub 2017 Feb 27.
23 Comprehensive assessment of TMPRSS2 and ETS family gene aberrations in clinically localized prostate cancer.Mod Pathol. 2007 May;20(5):538-44. doi: 10.1038/modpathol.3800769. Epub 2007 Mar 2.
24 SERT Ileu425Val in autism, Asperger syndrome and obsessive-compulsive disorder.Psychiatr Genet. 2008 Feb;18(1):31-9. doi: 10.1097/YPG.0b013e3282f08a06.
25 MDR-1, but not MDR-3 gene expression, is associated with unmutated IgVH genes and poor prognosis chromosomal aberrations in chronic lymphocytic leukemia.Leuk Lymphoma. 2006 Nov;47(11):2308-13. doi: 10.1080/10428190600881421.
26 Overexpression of ADAM9 in oral squamous cell carcinoma.Oncol Lett. 2018 Jan;15(1):495-502. doi: 10.3892/ol.2017.7284. Epub 2017 Oct 30.
27 Recurrent Cytogenetic Abnormalities in Non-Hodgkin's Lymphoma and Chronic Lymphocytic Leukemia.Methods Mol Biol. 2017;1541:279-293. doi: 10.1007/978-1-4939-6703-2_22.
28 Absence of cyclin-dependent kinase inhibitor p27 or p18 increases efficiency of iPSC generation without induction of iPSC genomic instability.Cell Death Dis. 2019 Mar 20;10(4):271. doi: 10.1038/s41419-019-1502-8.
29 Effects of PBDE-47 on cytotoxicity and genotoxicity in human neuroblastoma cells in vitro.Mutat Res. 2008 Jan 8;649(1-2):62-70. doi: 10.1016/j.mrgentox.2007.08.001. Epub 2007 Aug 6.
30 The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair.Nat Genet. 2005 Sep;37(9):953-7. doi: 10.1038/ng1627. Epub 2005 Aug 21.
31 Identification of CBL, a proto-oncogene at 11q23.3, as a novel MLL fusion partner in a patient with de novo acute myeloid leukemia.Genes Chromosomes Cancer. 2003 Jun;37(2):214-9. doi: 10.1002/gcc.10204.
32 Myeloid lineage involvement in acute lymphoblastic leukemia: a morphology antibody chromosomes (MAC) study.Exp Hematol. 1995 Dec;23(14):1563-7.
33 Immunophenotypic Characterization of Cytogenetic Subgroups in Egyptian Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia.Clin Lymphoma Myeloma Leuk. 2016 Aug;16 Suppl:S19-S24.e1. doi: 10.1016/j.clml.2016.02.032.
34 Chromosomal in-vitro radiosensitivity of lymphocytes in radiotherapy patients and AT-homozygotes.Strahlenther Onkol. 1998 Oct;174(10):510-6. doi: 10.1007/BF03038983.
35 Coexisting of bone marrow fibrosis, dysplasia and an X chromosomal abnormality in chronic neutrophilic leukemia with CSF3R mutation: a case report and literature review.BMC Cancer. 2018 Mar 27;18(1):343. doi: 10.1186/s12885-018-4236-6.
36 Chromosome aberrations in workers exposed to organic solvents: Influence of polymorphisms in xenobiotic-metabolism and DNA repair genes.Mutat Res. 2009 Jun 18;666(1-2):8-15. doi: 10.1016/j.mrfmmm.2009.03.003. Epub 2009 Mar 24.
37 Focal aberrations indicate EYA2 and hsa-miR-375 as oncogene and tumor suppressor in cervical carcinogenesis.Genes Chromosomes Cancer. 2013 Jan;52(1):56-68. doi: 10.1002/gcc.22006. Epub 2012 Sep 14.
38 Epstein-Barr-virus-associated lymphoproliferative syndrome in severe combined immunodeficiency: establishment of a lymphoblastoid cell line as an in vitro model for biological and therapeutic studies.Acta Haematol. 1996;96(3):170-7. doi: 10.1159/000203769.
39 Deregulation of FCGR2B expression by 1q21 rearrangements in follicular lymphomas.Oncogene. 2001 Nov 15;20(52):7686-93. doi: 10.1038/sj.onc.1204989.
40 Prognostic impact of chromosomal aberrations and GNAQ, GNA11 and BAP1 mutations in uveal melanoma.Acta Ophthalmol. 2018 Feb;96(1):31-38. doi: 10.1111/aos.13452. Epub 2017 Apr 26.
41 Identification of marker chromosomes in thirteen patients using FISH probing.Am J Med Genet. 1994 Oct 15;53(1):8-18. doi: 10.1002/ajmg.1320530103.
42 The emerging pharmacology and function of GPR35 in the nervous system.Neuropharmacology. 2017 Feb;113(Pt B):661-671. doi: 10.1016/j.neuropharm.2015.07.035. Epub 2015 Jul 29.
43 Promoter DNA methylation and expression levels of HOXA4, HOXA5 and MEIS1 in acute myeloid leukemia.Mol Med Rep. 2015 May;11(5):3948-54. doi: 10.3892/mmr.2015.3196. Epub 2015 Jan 13.
44 Cell surface phenotype profiles distinguish stable and progressive chronic lymphocytic leukemia.Leuk Lymphoma. 2014 Sep;55(9):2085-92. doi: 10.3109/10428194.2013.867486. Epub 2014 Jan 24.
45 Expression, purification, and analysis of MOZ and MORF histone acetyltransferases.Methods. 2003 Sep;31(1):24-32. doi: 10.1016/s1046-2023(03)00084-7.
46 Expression of immune inhibitory receptor ILT3 in acute myeloid leukemia with monocytic differentiation.Cytometry B Clin Cytom. 2013 Jan-Feb;84(1):21-9. doi: 10.1002/cyto.b.21050. Epub 2012 Oct 18.
47 The cryptic chromosomal deletion del(11)(p12p13) as a new activation mechanism of LMO2 in pediatric T-cell acute lymphoblastic leukemia.Blood. 2006 Nov 15;108(10):3520-9. doi: 10.1182/blood-2006-04-019927. Epub 2006 Jul 27.
48 Morphologic features of 115 lymphomas of the orbit and ocular adnexa categorized according to the World Health Organization classification: are marginal zone lymphomas in the orbit mucosa-associated lymphoid tissue-type lymphomas?.Arch Pathol Lab Med. 2008 Sep;132(9):1405-16. doi: 10.5858/2008-132-1405-MFOLOT.
49 Genetic abnormalities in marginal zone B-cell lymphoma.Hematol Oncol. 2000 Mar;18(1):1-13. doi: 10.1002/(sici)1099-1069(200003)18:1<1::aid-hon647>3.0.co;2-g.
50 Novel TNS3-MAP3K3 and ZFPM2-ELF5 fusion genes identified by RNA sequencing in multicystic mesothelioma with t(7;17)(p12;q23) and t(8;11)(q23;p13).Cancer Lett. 2015 Feb 28;357(2):502-9. doi: 10.1016/j.canlet.2014.12.002. Epub 2014 Dec 4.
51 Biologic tumor behavior in pilocytic astrocytomas.Childs Nerv Syst. 2012 Mar;28(3):375-89. doi: 10.1007/s00381-011-1676-6. Epub 2012 Jan 14.
52 Genomic stability and functional activity may be lost in telomerase-transduced human CD8+ T lymphocytes.Blood. 2005 Oct 15;106(8):2663-70. doi: 10.1182/blood-2004-09-3742. Epub 2005 Jul 7.
53 De Novo Design of New Inhibitor of Mutated Tyrosine-Kinase for the Myeloid Leukemia Treatment.Curr Pharm Des. 2016;22(33):5057-5064. doi: 10.2174/1381612822666160607220532.
54 Cytogenetics of chronic myeloproliferative disorders and related myelodysplastic syndromes.Hematol Oncol Clin North Am. 2003 Oct;17(5):1129-49. doi: 10.1016/s0889-8588(03)00087-x.
55 Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities.Prenat Diagn. 1996 Oct;16(10):915-22. doi: 10.1002/(SICI)1097-0223(199610)16:10<915::AID-PD966>3.0.CO;2-V.
56 Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.Hum Genet. 1992 Aug;89(6):632-4. doi: 10.1007/BF00221953.
57 Phosphoinositide protein kinase PDPK1 is a crucial cell signaling mediator in multiple myeloma.Cancer Res. 2014 Dec 15;74(24):7418-29. doi: 10.1158/0008-5472.CAN-14-1420. Epub 2014 Sep 30.
58 The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity.Sci Rep. 2019 Oct 2;9(1):14188. doi: 10.1038/s41598-019-50673-4.
59 A novel approach to quantitating leukemia fusion transcripts by qRT-PCR without the need for standard curves.Exp Mol Pathol. 2015 Aug;99(1):104-8. doi: 10.1016/j.yexmp.2015.06.006. Epub 2015 Jun 14.
60 DNA breaks and chromosomal aberrations arise when replication meets base excision repair.J Cell Biol. 2014 Jul 7;206(1):29-43. doi: 10.1083/jcb.201312078. Epub 2014 Jun 30.
61 RSK2(Ser227) at N-terminal kinase domain is a potential therapeutic target for multiple myeloma.Mol Cancer Ther. 2012 Dec;11(12):2600-9. doi: 10.1158/1535-7163.MCT-12-0605. Epub 2012 Sep 25.
62 Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.Genes Chromosomes Cancer. 2013 Feb;52(2):214-24. doi: 10.1002/gcc.22023. Epub 2012 Oct 29.
63 Fusion of the TBL1XR1 and HMGA1 genes in splenic hemangioma with t(3;6)(q26;p21).Int J Oncol. 2016 Mar;48(3):1242-50. doi: 10.3892/ijo.2015.3310. Epub 2015 Dec 28.
64 Effects of DNA polymerase kappa and mismatch repair on dose-responses of chromosome aberrations induced by three oxidative genotoxins in human cells.Environ Mol Mutagen. 2020 Jan;61(1):193-199. doi: 10.1002/em.22315. Epub 2019 Jul 25.
65 CD30 Characterizes Polylobated Lymphocytes and Disease Progression in HTLV-1-Infected Individuals.Clin Cancer Res. 2018 Nov 1;24(21):5445-5457. doi: 10.1158/1078-0432.CCR-18-0268. Epub 2018 Aug 1.
66 An E2F7-dependent transcriptional program modulates DNA damage repair and genomic stability.Nucleic Acids Res. 2018 May 18;46(9):4546-4559. doi: 10.1093/nar/gky218.
67 TPPII promotes genetic instability by allowing the escape from apoptosis of cells with activated mitotic checkpoints.Biochem Biophys Res Commun. 2006 Jul 28;346(2):415-25. doi: 10.1016/j.bbrc.2006.05.141. Epub 2006 Jun 2.
68 The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway.Mol Cell. 2005 Feb 4;17(3):331-9. doi: 10.1016/j.molcel.2005.01.008.
69 Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15.Int J Oncol. 2002 Aug;21(2):321-6.
70 Downregulated XPA promotes carcinogenesis of bladder cancer via impairment of DNA repair.Tumour Biol. 2017 Feb;39(2):1010428317691679. doi: 10.1177/1010428317691679.
71 Impact of sodium arsenite on chromosomal aberrations with respect to polymorphisms of detoxification and DNA repair genes.Int J Toxicol. 2014 Nov-Dec;33(6):518-22. doi: 10.1177/1091581814557953. Epub 2014 Nov 12.
72 Genetic variation in the major mitotic checkpoint genes associated with chromosomal aberrations in healthy humans.Cancer Lett. 2016 Oct 1;380(2):442-446. doi: 10.1016/j.canlet.2016.07.011. Epub 2016 Jul 15.
73 Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia.Ann Hematol. 2019 Feb;98(2):423-435. doi: 10.1007/s00277-018-3520-5. Epub 2018 Oct 27.
74 CD19-positive acute myeloblastic leukemia with trisomy 21 as a sole acquired karyotypic abnormality.J Zhejiang Univ Sci B. 2009 Nov;10(11):833-8. doi: 10.1631/jzus.B0820362.
75 Acute myeloid leukemia with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP in adults.Ann Hematol. 2019 May;98(5):1149-1157. doi: 10.1007/s00277-019-03637-7. Epub 2019 Feb 13.
76 Clinical significance of LAIR1 (CD305) as assessed by flow cytometry in a prospective series of patients with chronic lymphocytic leukemia.Haematologica. 2014 May;99(5):881-7. doi: 10.3324/haematol.2013.096362. Epub 2014 Jan 10.
77 Studies of DNA and chromosome damage in skin fibroblasts and blood lymphocytes from psoriasis patients treated with 8-methoxypsoralen and UVA irradiation.J Invest Dermatol. 1983 Aug;81(2):93-7. doi: 10.1111/1523-1747.ep12542161.
78 Biological and clinical heterogeneity of MYCN-amplified medulloblastoma.Acta Neuropathol. 2012 Apr;123(4):515-27. doi: 10.1007/s00401-011-0918-8. Epub 2011 Dec 9.
79 Telomere dysfunction as a cause of genomic instability in Werner syndrome.Proc Natl Acad Sci U S A. 2007 Feb 13;104(7):2205-10. doi: 10.1073/pnas.0609410104. Epub 2007 Feb 6.
80 Additional chromosome aberrations in acute promyelocytic leukemia: characteristics and prognostic influence.Med Oncol. 2000 Nov;17(4):307-13. doi: 10.1007/BF02782196.
81 Impact and issues of detecting fetal congenital heart defects in Kyushu, Japan.J Obstet Gynaecol Res. 2011 Jul;37(7):775-81. doi: 10.1111/j.1447-0756.2010.01432.x. Epub 2011 Mar 13.
82 Clinical, cytogenetic and CYP1A1 exon-1 gene mutation analysis of Beedi workers in Vellore region, Tamil Nadu.Asian Pac J Cancer Prev. 2013;14(12):7555-60. doi: 10.7314/apjcp.2013.14.12.7555.
83 Comparison of biomarkers in workers exposed to 2,4,6-trinitrotoluene.Biomarkers. 2007 Jan-Feb;12(1):21-37. doi: 10.1080/13547500600807012.
84 Granulocytes' enzymes as biomarkers of radiotoxicity in individuals occupationally exposed to low-level radiation.J BUON. 2009 Jan-Mar;14(1):85-91.
85 Pyridoxine/pyridoxamine 5'-phosphate oxidase (Sgll/PNPO) is important for DNA integrity and glucose homeostasis maintenance in Drosophila.J Cell Physiol. 2020 Jan;235(1):504-512. doi: 10.1002/jcp.28990. Epub 2019 Jul 10.
86 Biomarkers of exposure, effect, and susceptibility in workers exposed to nitrotoluenes.Cancer Epidemiol Biomarkers Prev. 2006 Mar;15(3):559-66. doi: 10.1158/1055-9965.EPI-05-0677.
87 Acquired Cystic Disease-Associated Renal Cell Carcinoma: Review of Pathogenesis, Morphology, Ancillary Tests, and Clinical Features.Arch Pathol Lab Med. 2017 Apr;141(4):600-606. doi: 10.5858/arpa.2016-0123-RS.
88 Chronic lymphocytic leukemia with t(14;19)(q32;q13) is characterized by atypical morphologic and immunophenotypic features and distinctive genetic features.Am J Clin Pathol. 2011 May;135(5):686-96. doi: 10.1309/AJCPOEFP3SLX6HXJ.
89 DYNLL1 binds to MRE11 to limit DNA end resection in BRCA1-deficient cells.Nature. 2018 Nov;563(7732):522-526. doi: 10.1038/s41586-018-0670-5. Epub 2018 Oct 31.
90 Unusual myogenic and melanocytic differentiation of soft tissue pPNETs: an immunohistochemical and molecular study of 3 cases.Am J Surg Pathol. 2010 Jul;34(7):1002-6. doi: 10.1097/PAS.0b013e3181e03b81.
91 CDKN2B Methylation Correlates with Survival in AML Patients.Iran J Pharm Res. 2017 Fall;16(4):1600-1611.
92 Increased paternal age in CHARGE association.Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x.
93 Chromosome fragments have the potential to predict hyperthermia-induced radio-sensitization in two different human tumor cell lines.J Radiat Res. 2008 Sep;49(5):465-72. doi: 10.1269/jrr.07133. Epub 2008 Apr 15.
94 Phenotypic subregions within the split-hand/foot malformation 1 locus.Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2.
95 Gain of 1q is a marker of poor prognosis in Wilms' tumors.Genes Chromosomes Cancer. 2013 Nov;52(11):1065-74. doi: 10.1002/gcc.22101. Epub 2013 Sep 4.
96 CNDAC-Induced DNA Double-Strand Breaks Cause Aberrant Mitosis Prior to Cell Death.Mol Cancer Ther. 2019 Dec;18(12):2283-2295. doi: 10.1158/1535-7163.MCT-18-1380. Epub 2019 Sep 9.
97 Myeloid neoplasms with t(12;22)(p13;q12)/MN1-EVT6: a systematic review of 12 cases.Ann Hematol. 2018 Mar;97(3):417-424. doi: 10.1007/s00277-017-3208-2. Epub 2017 Dec 22.
98 Acquired loss of p53 induces blastic transformation in p210(bcr/abl)-expressing hematopoietic cells: a transgenic study for blast crisis of human CML.Blood. 2000 Feb 15;95(4):1144-50.
99 Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas.Cancer. 1998 May 1;82(9):1657-63. doi: 10.1002/(sici)1097-0142(19980501)82:9<1657::aid-cncr10>3.0.co;2-3.
100 Genistein-induced DNA damage is repaired by nonhomologous end joining and homologous recombination in TK6 cells.J Cell Physiol. 2019 Mar;234(3):2683-2692. doi: 10.1002/jcp.27082. Epub 2018 Aug 2.
101 Upregulation of Meis1 and HoxA9 in acute lymphocytic leukemias with the t(4 : 11) abnormality.Oncogene. 2001 Feb 15;20(7):874-8. doi: 10.1038/sj.onc.1204174.
102 Interleukin-3 plus interleukin-6 may improve chromosomal analysis of multiple myeloma: cytologic and cytogenetic evidence in thirty-four patients.Cancer Genet Cytogenet. 1996 Sep;90(2):171-5. doi: 10.1016/s0165-4608(96)00129-x.
103 Phase 2 study of lenalidomide in transfusion-dependent, low-risk, and intermediate-1 risk myelodysplastic syndromes with karyotypes other than deletion 5q.Blood. 2008 Jan 1;111(1):86-93. doi: 10.1182/blood-2007-01-068833. Epub 2007 Sep 24.
104 Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma.Int J Cancer. 2014 Mar 1;134(5):1112-22. doi: 10.1002/ijc.28440. Epub 2013 Sep 4.
105 A case of pure red cell aplasia with a high incidence of spontaneous chromosome breakage: a possible X-ray sensitive syndrome.Hum Genet. 1980;55(3):337-40. doi: 10.1007/BF00290214.
106 A new role for Drosophila Aurora-A in maintaining chromosome integrity.Chromosoma. 2019 Mar;128(1):41-52. doi: 10.1007/s00412-018-00687-0. Epub 2019 Jan 5.
107 BRIT1/MCPH1: a guardian of genome and an enemy of tumors.Cell Cycle. 2006 Nov;5(22):2579-83. doi: 10.4161/cc.5.22.3471. Epub 2006 Nov 15.
108 Intratumoral genetic heterogeneity and number of cytogenetic aberrations provide additional prognostic significance in chronic lymphocytic leukemia.Genet Med. 2017 Feb;19(2):182-191. doi: 10.1038/gim.2016.81. Epub 2016 Jul 28.
109 Global reduction of the epigenetic H3K79 methylation mark and increased chromosomal instability in CALM-AF10-positive leukemias.Blood. 2009 Jul 16;114(3):651-8. doi: 10.1182/blood-2009-03-209395. Epub 2009 May 14.
110 Clonal chromosomal and genomic instability during human multipotent mesenchymal stromal cells long-term culture.PLoS One. 2018 Feb 12;13(2):e0192445. doi: 10.1371/journal.pone.0192445. eCollection 2018.
111 The structure-specific endonuclease Mus81 contributes to replication restart by generating double-strand DNA breaks.Nat Struct Mol Biol. 2007 Nov;14(11):1096-104. doi: 10.1038/nsmb1313. Epub 2007 Oct 14.
112 Detection of a novel CBFB-MYH11 fusion transcript in acute myeloid leukemia M1 with inv(16)(p13q22).Cancer Genet. 2020 Feb;241:72-76. doi: 10.1016/j.cancergen.2019.07.005. Epub 2019 Jul 24.
113 Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement.Ann Hematol. 2012 Feb;91(2):193-201. doi: 10.1007/s00277-011-1289-x. Epub 2011 Jul 1.
114 Prenatal diagnostic testing and atypical chromosome abnormalities following combined first-trimester screening: implications for contingent models of non-invasive prenatal testing.Ultrasound Obstet Gynecol. 2018 Apr;51(4):487-492. doi: 10.1002/uog.18979.
115 Ethnic differences in the frequency of subtypes of childhood acute lymphoblastic leukemia: results of the Malaysia-Singapore Leukemia Study Group.J Pediatr Hematol Oncol. 2007 Jan;29(1):27-31. doi: 10.1097/MPH.0b013e318030ac4c.
116 Disruption of direct 3D telomere-TRF2 interaction through two molecularly disparate mechanisms is a hallmark of primary Hodgkin and Reed-Sternberg cells.Lab Invest. 2017 Jul;97(7):772-781. doi: 10.1038/labinvest.2017.33. Epub 2017 Apr 24.
117 POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.Nat Genet. 2013 May;45(5):526-30. doi: 10.1038/ng.2584. Epub 2013 Mar 17.
118 Elevated PTTG and PBF predicts poor patient outcome and modulates DNA damage response genes in thyroid cancer.Oncogene. 2017 Sep 14;36(37):5296-5308. doi: 10.1038/onc.2017.154. Epub 2017 May 15.
119 Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.Carcinogenesis. 2015 Jan;36(1):13-24. doi: 10.1093/carcin/bgu211. Epub 2014 Oct 7.
120 Differential roles for DNA polymerases eta, zeta, and REV1 in lesion bypass of intrastrand versus interstrand DNA cross-links.Mol Cell Biol. 2010 Mar;30(5):1217-30. doi: 10.1128/MCB.00993-09. Epub 2009 Dec 22.
121 Analysis of S100A11 in DNA Damage Repair.Methods Mol Biol. 2019;1929:447-460. doi: 10.1007/978-1-4939-9030-6_28.
122 Construction and application of (Q)SAR models to predict chemical-induced in vitro chromosome aberrations.Regul Toxicol Pharmacol. 2018 Nov;99:274-288. doi: 10.1016/j.yrtph.2018.09.026. Epub 2018 Sep 29.
123 Toxicological responses of surfactant functionalized selenium nanoparticles: A quantitative multi-assay approach.Sci Total Environ. 2018 Dec 1;643:1265-1277. doi: 10.1016/j.scitotenv.2018.06.296. Epub 2018 Jul 4.
124 Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects.J Appl Genet. 2017 Nov;58(4):481-486. doi: 10.1007/s13353-017-0412-7. Epub 2017 Oct 6.
125 The genetic basis of Gilles de la Tourette Syndrome.Neurosci Biobehav Rev. 2013 Jul;37(6):1026-39. doi: 10.1016/j.neubiorev.2013.01.016. Epub 2013 Jan 17.
126 Aberrant levels of SUV39H1 and SUV39H2 methyltransferase are associated with genomic instability in chronic lymphocytic leukemia.Environ Mol Mutagen. 2017 Dec;58(9):654-661. doi: 10.1002/em.22128. Epub 2017 Aug 19.
127 Simultaneous translocation of both TCR Loci (14q11) with rare partner loci (Xq22 and 12p13) in a case of T-lymphoblastic leukemia.Ann Lab Med. 2012 May;32(3):220-4. doi: 10.3343/alm.2012.32.3.220. Epub 2012 Apr 18.
128 The potential evasion of immune surveillance in mucosa associated lymphoid tissue lymphoma by DcR2-mediated up-regulation of nuclear factor-B.Leuk Lymphoma. 2015 May;56(5):1440-9. doi: 10.3109/10428194.2014.953149. Epub 2014 Nov 5.
129 TOPBP1(Dpb11) plays a conserved role in homologous recombination DNA repair through the coordinated recruitment of 53BP1(Rad9).J Cell Biol. 2017 Mar 6;216(3):623-639. doi: 10.1083/jcb.201607031. Epub 2017 Feb 22.
130 Array comparative genomic hybridization analysis identifies recurrent gain of chromosome 2p25.3 involving the ACP1 and MYCN genes in chronic lymphocytic leukemia.Clin Lymphoma Myeloma Leuk. 2011 Jun;11 Suppl 1(Suppl 1):S17-24. doi: 10.1016/j.clml.2011.03.031. Epub 2011 May 5.
131 Non-SMC condensin I complex subunit H mediates mature chromosome condensation and DNA damage in pancreatic cancer cells.Sci Rep. 2019 Nov 29;9(1):17889. doi: 10.1038/s41598-019-54478-3.
132 Analysis of treatment failure in patients with minimally differentiated acute myeloid leukemia (AML-M0).Blood. 1994 Mar 15;83(6):1619-25.
133 A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. Am J Hum Genet. 2009 Dec;85(6):833-46. doi: 10.1016/j.ajhg.2009.11.003.
134 Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.Cytogenet Genome Res. 2006;112(1-2):170-5. doi: 10.1159/000087531.
135 ADAM12 as a marker of trisomy 18 in the first and second trimester of pregnancy.J Matern Fetal Neonatal Med. 2007 Sep;20(9):645-50. doi: 10.1080/14767050701483389.
136 Two human myeloma cell lines, amylase-producing KMS-12-PE and amylase-non-producing KMS-12-BM, were established from a patient, having the same chromosome marker, t(11;14)(q13;q32).Br J Haematol. 1989 Oct;73(2):199-204. doi: 10.1111/j.1365-2141.1989.tb00252.x.
137 Autism and chromosome abnormalities-A review.Clin Anat. 2016 Jul;29(5):620-7. doi: 10.1002/ca.22719. Epub 2016 Apr 19.
138 Chromosome abnormalities in non-small cell lung cancer pleural effusions: cytogenetic indicators of disease subgroups.Genes Chromosomes Cancer. 1993 Dec;8(4):262-9. doi: 10.1002/gcc.2870080409.
139 Feasibility of the AML profiler (Skyline?Array) for patient risk stratification in a multicentre trial: a preliminary comparison with the conventional approach.Hematol Oncol. 2017 Dec;35(4):778-788. doi: 10.1002/hon.2304. Epub 2016 May 3.
140 Molecular cloning of complex chromosomal translocation t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon.Blood. 1996 Apr 15;87(8):3124-34.
141 Expression of partial tandem duplication of mixed lineage leukaemia in patients with acute leukaemia and their relatives.Chin Med J (Engl). 2014;127(2):284-9.
142 TopBP1 interacts with BLM to maintain genome stability but is dispensable for preventing BLM degradation.Mol Cell. 2015 Mar 19;57(6):1133-1141. doi: 10.1016/j.molcel.2015.02.012.
143 ITPA protein, an enzyme that eliminates deaminated purine nucleoside triphosphates in cells.Mutat Res. 2010 Nov 28;703(1):43-50. doi: 10.1016/j.mrgentox.2010.06.009. Epub 2010 Jun 22.
144 Myeloid neoplasms with t(16;21)(q24;q22)/RUNX1-RUNX1T3 mimics acute myeloid leukemia with RUNX1-RUNX1T1.Ann Hematol. 2018 Oct;97(10):1775-1783. doi: 10.1007/s00277-018-3389-3. Epub 2018 Jun 5.
145 Genotranscriptomic meta-analysis of the Polycomb gene CBX2 in human cancers: initial evidence of an oncogenic role.Br J Cancer. 2014 Oct 14;111(8):1663-72. doi: 10.1038/bjc.2014.474. Epub 2014 Sep 16.
146 Follicular variant of papillary thyroid carcinoma: genome-wide appraisal of a controversial entity.Genes Chromosomes Cancer. 2004 Aug;40(4):355-64. doi: 10.1002/gcc.20049.
147 Effects of CCNU therapy on human chromosomes.Mutat Res. 1988 Oct;206(2):163-6. doi: 10.1016/0165-1218(88)90155-3.
148 Cdt1 transgenic mice develop lymphoblastic lymphoma in the absence of p53.Oncogene. 2005 Dec 8;24(55):8176-86. doi: 10.1038/sj.onc.1208881.
149 MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM.Mol Cell. 2010 Mar 26;37(6):879-86. doi: 10.1016/j.molcel.2010.01.036.
150 Chromatin remodeler ALC1 prevents replication-fork collapse by slowing fork progression.PLoS One. 2018 Feb 6;13(2):e0192421. doi: 10.1371/journal.pone.0192421. eCollection 2018.
151 Morgana acts as an oncosuppressor in chronic myeloid leukemia.Blood. 2015 Apr 2;125(14):2245-53. doi: 10.1182/blood-2014-05-575001. Epub 2015 Feb 12.
152 Outcome of Patients with Multiple Myeloma and CKS1B Gene Amplification after Autologous Hematopoietic Stem Cell Transplantation.Biol Blood Marrow Transplant. 2016 Dec;22(12):2159-2164. doi: 10.1016/j.bbmt.2016.09.003. Epub 2016 Sep 13.
153 The synergic effects of CTLA-4/Foxp3-related genotypes and chromosomal aberrations on the risk of recurrent spontaneous abortion among a Chinese Han population.J Hum Genet. 2018 May;63(5):579-587. doi: 10.1038/s10038-018-0414-2. Epub 2018 Feb 23.
154 Malignant histiocytosis. Histologic, cytochemical, chromosomal, and molecular data with a nosologic discussion.Hematol Oncol Clin North Am. 1998 Apr;12(2):445-63. doi: 10.1016/s0889-8588(05)70522-0.
155 Genetic variation associated with chromosomal aberration frequency: A genome-wide association study.Environ Mol Mutagen. 2019 Jan;60(1):17-28. doi: 10.1002/em.22236. Epub 2018 Oct 3.
156 Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks.Hum Mol Genet. 2011 Jul 1;20(13):2549-59. doi: 10.1093/hmg/ddr153. Epub 2011 Apr 8.
157 Chromosome deletion and multiple cartilaginous exostoses.Eur J Pediatr. 1980 Mar;133(2):163-6. doi: 10.1007/BF00441586.
158 Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity.Nat Commun. 2014 Apr 28;5:3695. doi: 10.1038/ncomms4695.
159 Association of pyoderma gangrenosum and sterile osteomyelitis in a patient having myelodysplastic syndrome with der(1;7)(q10;q10).Eur J Haematol. 2004 Feb;72(2):149-53. doi: 10.1046/j.0902-4441.2003.00191.x.
160 Global methylation patterns in primary plasma cell leukemia.Leuk Res. 2018 Oct;73:95-102. doi: 10.1016/j.leukres.2018.09.007. Epub 2018 Sep 18.
161 Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility.Oncotarget. 2018 Sep 25;9(75):34079-34089. doi: 10.18632/oncotarget.26123. eCollection 2018 Sep 25.
162 Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception.J Postgrad Med. 2016 Oct-Dec;62(4):239-241. doi: 10.4103/0022-3859.192664.
163 Identification of critical regions for clinical features of distal 10q deletion syndrome.Clin Genet. 2009 Jul;76(1):54-62. doi: 10.1111/j.1399-0004.2008.01115.x. Epub 2009 Jun 22.
164 The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malformations.Pediatr Cardiol. 2003 May-Jun;24(3):222-35. doi: 10.1007/s00246-002-9402-5. Epub 2003 Mar 17.
165 EEPD1 Rescues Stressed Replication Forks and Maintains Genome Stability by Promoting End Resection and Homologous Recombination Repair.PLoS Genet. 2015 Dec 18;11(12):e1005675. doi: 10.1371/journal.pgen.1005675. eCollection 2015 Dec.
166 Evaluating chromosomal damage in workers exposed to hexavalent chromium and the modulating role of polymorphisms of DNA repair genes.Int Arch Occup Environ Health. 2012 Jul;85(5):473-81. doi: 10.1007/s00420-011-0684-x. Epub 2011 Aug 20.
167 Increased separase activity and occurrence of centrosome aberrations concur with transformation of MDS.PLoS One. 2018 Jan 25;13(1):e0191734. doi: 10.1371/journal.pone.0191734. eCollection 2018.
168 Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability.J Cell Biol. 2019 Dec 2;218(12):3943-3953. doi: 10.1083/jcb.201905064. Epub 2019 Oct 15.
169 siRNA associated with immunonanoparticles directed against cd99 antigen improves gene expression inhibition in vivo in Ewing's sarcoma.J Mol Recognit. 2013 Jul;26(7):318-29. doi: 10.1002/jmr.2276.
170 Correction of the spontaneous and DEB-induced chromosomal aberrations in Fanconi anemia cells of the FA(C) complementation group by the FACC gene.Cytogenet Cell Genet. 1996;72(2-3):194-6. doi: 10.1159/000134187.
171 Areca nut induces miR-23a and inhibits repair of DNA double-strand breaks by targeting FANCG.Toxicol Sci. 2011 Oct;123(2):480-90. doi: 10.1093/toxsci/kfr182. Epub 2011 Jul 12.
172 FOXL2 mutation and large-scale genomic imbalances in adult granulosa cell tumors of the ovary.Cancer Genet. 2011 Nov;204(11):596-602. doi: 10.1016/j.cancergen.2011.10.002.
173 Foxn3 is essential for craniofacial development in mice and a putative candidate involved in human congenital craniofacial defects.Biochem Biophys Res Commun. 2010 Sep 10;400(1):60-5. doi: 10.1016/j.bbrc.2010.07.142. Epub 2010 Aug 5.
174 Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig.Genomics. 1999 Dec 15;62(3):325-31. doi: 10.1006/geno.1999.6017.
175 XRCC1 protects cells from chromate-induced chromosome damage, but does not affect cytotoxicity.Mutat Res. 2006 Nov 7;610(1-2):31-7. doi: 10.1016/j.mrgentox.2006.06.010. Epub 2006 Aug 14.
176 Biological dosimetry of radiation workers at the Sellafield nuclear facility.Radiat Res. 1997 Sep;148(3):216-26.
177 A Role for the Twins Protein Phosphatase (PP2A-B55) in the Maintenance of Drosophila Genome Integrity.Genetics. 2017 Mar;205(3):1151-1167. doi: 10.1534/genetics.116.192781. Epub 2016 Dec 30.
178 Giant cell tumor of bone: updated molecular pathogenesis and tumor biology.Hum Pathol. 2018 Nov;81:1-8. doi: 10.1016/j.humpath.2018.06.017. Epub 2018 Jun 23.
179 LS-CAP: an algorithm for identifying cytogenetic aberrations in hepatocellular carcinoma using microarray data.Front Biosci. 2006 May 1;11:1311-22. doi: 10.2741/1885.
180 Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.Hum Mol Genet. 2013 Jun 15;22(12):2471-81. doi: 10.1093/hmg/ddt099. Epub 2013 Feb 27.
181 Establishment and characterization of a common acute lymphoblastic leukemia cell line with a deletion of chromosome 3 band q26.Cancer Res. 1987 Mar 15;47(6):1652-6.
182 Circulating tumor cells: potential markers of minimal residual disease in ovarian cancer? a study of the OVCAD consortium.Oncotarget. 2017 Nov 16;8(63):106415-106428. doi: 10.18632/oncotarget.22468. eCollection 2017 Dec 5.
183 Helicase-like transcription factor is a RUNX1 target whose downregulation promotes genomic instability and correlates with complex cytogenetic features in acute myeloid leukemia.Haematologica. 2016 Apr;101(4):448-57. doi: 10.3324/haematol.2015.137125. Epub 2016 Jan 22.
184 Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.Ophthalmic Genet. 2013 Mar-Jun;34(1-2):90-6. doi: 10.3109/13816810.2012.718850. Epub 2012 Sep 6.
185 ID3 mutations are recurrent events in double-hit B-cell lymphomas.Anticancer Res. 2013 Nov;33(11):4771-8.
186 Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.Am J Med Genet A. 2011 Feb;155A(2):372-9. doi: 10.1002/ajmg.a.33656. Epub 2010 Oct 28.
187 B Lymphoblastic Leukemia With a Novel t(11;15) (q23;q15) and Unique Burkittoid Morphologic and Immunophenotypic Findings in a 9-Year-Old Boy.Lab Med. 2015 Fall;46(4):320-6. doi: 10.1309/LM0BOC84GSQGHYKD.
188 Pro-apoptotic and antiproliferative activity of human KCNRG, a putative tumor suppressor in 13q14 region.Tumour Biol. 2010 Jan;31(1):33-45. doi: 10.1007/s13277-009-0005-0. Epub 2009 Dec 18.
189 Cancer-predisposition gene KLLN maintains pericentric H3K9 trimethylation protecting genomic stability.Nucleic Acids Res. 2016 May 5;44(8):3586-94. doi: 10.1093/nar/gkv1481. Epub 2015 Dec 15.
190 MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression.Proc Natl Acad Sci U S A. 2004 Jan 20;101(3):757-62. doi: 10.1073/pnas.2036345100. Epub 2004 Jan 12.
191 Structure of the supernumerary ring and giant rod chromosomes in adipose tissue tumors.Genes Chromosomes Cancer. 1999 Jan;24(1):30-41.
192 Human chronic myeloid leukemic cell line with positive Philadelphia chromosome exhibits megakaryocytic and erythroid characteristics.Exp Hematol. 1987 Sep;15(8):822-32.
193 Mapping by gene dosage, using aneuploid human lymphoid cell lines.Ann Hum Genet. 1981 May;45(2):169-79. doi: 10.1111/j.1469-1809.1981.tb00319.x.
194 LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes.Genomics. 1999 May 1;57(3):438-41. doi: 10.1006/geno.1999.5778.
195 Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.Eur J Hum Genet. 2010 Mar;18(3):291-5. doi: 10.1038/ejhg.2009.163. Epub 2009 Oct 21.
196 Identification of chromosomal aberrations associated with disease progression and a novel 3q13.31 deletion involving LSAMP gene in osteosarcoma.Int J Oncol. 2009 Oct;35(4):775-88. doi: 10.3892/ijo_00000390.
197 13-cis retinoic acid treatment for myelodysplastic syndromes.J Clin Oncol. 1986 Apr;4(4):589-95. doi: 10.1200/JCO.1986.4.4.589.
198 Characterization of a pediatric T-cell acute lymphoblastic leukemia patient with simultaneous LYL1 and LMO2 rearrangements.Haematologica. 2012 Feb;97(2):258-61. doi: 10.3324/haematol.2011.051722. Epub 2011 Nov 4.
199 Expression changes of the MAD mitotic checkpoint gene family in renal cell carcinomas characterized by numerical chromosome changes.Virchows Arch. 2007 Apr;450(4):379-85. doi: 10.1007/s00428-007-0386-7. Epub 2007 Feb 28.
200 Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.Am J Hum Genet. 1992 Apr;50(4):801-7.
201 AF1q is a novel TCF7 co-factor which activates CD44 and promotes breast cancer metastasis.Oncotarget. 2015 Aug 21;6(24):20697-710. doi: 10.18632/oncotarget.4136.
202 Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs.Proc Natl Acad Sci U S A. 1993 May 15;90(10):4631-5. doi: 10.1073/pnas.90.10.4631.
203 Diagnostic value of STMN1, LMO2, HGAL, AID expression and 1p36 chromosomal abnormalities in primary cutaneous B cell lymphomas.Histopathology. 2017 Oct;71(4):648-660. doi: 10.1111/his.13279. Epub 2017 Jul 19.
204 Recessive cancer genes in meningiomas? An analysis of 31 cases.Cancer Genet Cytogenet. 1987 Jul;27(1):145-59. doi: 10.1016/0165-4608(87)90269-x.
205 Structural alterations of the c-mos locus in benign pleomorphic adenomas with chromosome abnormalities of 8q12.Oncogene. 1991 Jul;6(7):1105-8.
206 Chronic neutrophilic leukemia associated with chronic lymphocytic leukemia.Int J Hematol. 1998 Jul;68(1):87-94. doi: 10.1016/s0925-5710(98)00031-0.
207 Molecular cytogenetic analysis of the breakpoint region at 6q21-22 in T-cell lymphoma/leukemia cell lines.Genes Chromosomes Cancer. 2002 Jun;34(2):175-85. doi: 10.1002/gcc.10057.
208 Disruption of neurexin 1 associated with autism spectrum disorder.Am J Hum Genet. 2008 Jan;82(1):199-207. doi: 10.1016/j.ajhg.2007.09.011.
209 Insulin like growth factor binding protein 7 (IGFBP7) expression is linked to poor prognosis but may protect from bone disease in multiple myeloma.J Hematol Oncol. 2015 Feb 8;8:10. doi: 10.1186/s13045-014-0105-1.
210 Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation.Proc Natl Acad Sci U S A. 2013 Aug 27;110(35):14314-9. doi: 10.1073/pnas.1306752110. Epub 2013 Aug 12.
211 Nucleoporin 54 contributes to homologous recombination repair and post-replicative DNA integrity.Nucleic Acids Res. 2018 Sep 6;46(15):7731-7746. doi: 10.1093/nar/gky569.
212 Comparative molecular approaches in Prader-Willi syndrome diagnosis.Gene. 2016 Jan 10;575(2 Pt 1):353-8. doi: 10.1016/j.gene.2015.08.058. Epub 2015 Sep 1.
213 Establishment and characterization of primary and metastatic uveal melanoma cell lines.Int J Cancer. 1996 May 3;66(3):380-7. doi: 10.1002/(SICI)1097-0215(19960503)66:3<380::AID-IJC19>3.0.CO;2-F.
214 Centrosome abnormalities in giant cell tumour of bone: possible association with chromosomal instability.Mod Pathol. 2010 Mar;23(3):359-66. doi: 10.1038/modpathol.2009.134. Epub 2010 Jan 8.
215 Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.Mol Genet Metab. 2010 Sep;101(1):87-9. doi: 10.1016/j.ymgme.2010.05.008. Epub 2010 Jun 11.
216 CD56 antigenic expression in acute myeloid leukemia identifies patients with poor clinical prognosis.Leukemia. 2001 Aug;15(8):1161-4. doi: 10.1038/sj.leu.2402174.
217 Incidence of MLL rearrangement in acute myeloid leukemia, and a CALM-AF10 fusion in M4 type acute myeloblastic leukemia.Leuk Lymphoma. 2002 Jan;43(1):89-95. doi: 10.1080/10428190290000437.
218 Chromosomal losses and gains in meningiomas: comparative genomic hybridization (CGH) study of the whole genome.Neurol Res. 1998 Oct;20(7):612-6. doi: 10.1080/01616412.1998.11740572.
219 No genotoxicity in rat blood cells upon 3- or 6-month inhalation exposure to CeO2 or BaSO4 nanomaterials.Mutagenesis. 2017 Jan;32(1):13-22. doi: 10.1093/mutage/gew005. Epub 2016 Feb 9.
220 Smoking status regulates a novel panel of PIWI-interacting RNAs in head and neck squamous cell carcinoma.Oral Oncol. 2017 Feb;65:68-75. doi: 10.1016/j.oraloncology.2016.12.022. Epub 2016 Dec 31.
221 Homeodomain transcription factor and tumor suppressor Prep1 is required to maintain genomic stability.Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):E314-22. doi: 10.1073/pnas.1105216108. Epub 2011 Jun 29.
222 Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature.Histopathology. 2014 Apr;64(5):731-40. doi: 10.1111/his.12317. Epub 2014 Jan 17.
223 MmTRA1b/phospholipid scramblase 1 gene expression is a new prognostic factor for acute myelogenous leukemia.Leuk Res. 2004 Feb;28(2):149-57. doi: 10.1016/s0145-2126(03)00189-9.
224 The effect of associated structural malformations in the prediction of chromosomal abnormality risk of fetuses with echogenic bowel.J Matern Fetal Neonatal Med. 2016;29(1):41-5. doi: 10.3109/14767058.2014.986091. Epub 2014 Dec 5.
225 Roles of human POLD1 and POLD3 in genome stability.Sci Rep. 2016 Dec 15;6:38873. doi: 10.1038/srep38873.
226 The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells.Oncogene. 1995 Aug 17;11(4):691-700.
227 An integrative CGH, MSI and candidate genes methylation analysis of colorectal tumors.PLoS One. 2014 Jan 27;9(1):e82185. doi: 10.1371/journal.pone.0082185. eCollection 2014.
228 Rad54/Rad54B deficiency is associated to increased chromosome breakage in mouse spermatocytes.Mutagenesis. 2018 Oct 11;33(4):323-332. doi: 10.1093/mutage/gey027.
229 Human Rad9 is required for the activation of S-phase checkpoint and the maintenance of chromosomal stability.Genes Cells. 2005 Apr;10(4):287-95. doi: 10.1111/j.1365-2443.2005.00840.x.
230 Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency.Hum Mutat. 1997;10(6):430-5. doi: 10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H.
231 RGS22, a novel cancer/testis antigen, inhibits epithelial cell invasion and metastasis.Clin Exp Metastasis. 2011 Aug;28(6):541-9. doi: 10.1007/s10585-011-9390-z. Epub 2011 May 1.
232 Isochromosome 7q: the primary cytogenetic abnormality in hepatosplenic gammadelta T cell lymphoma.Leukemia. 1997 Aug;11(8):1367-72. doi: 10.1038/sj.leu.2400742.
233 A Class of Environmental and Endogenous Toxins Induces BRCA2 Haploinsufficiency and Genome Instability.Cell. 2017 Jun 1;169(6):1105-1118.e15. doi: 10.1016/j.cell.2017.05.010.
234 A novel RING-type ubiquitin ligase breast cancer-associated gene 2 correlates with outcome in invasive breast cancer.Cancer Res. 2005 Nov 15;65(22):10401-12. doi: 10.1158/0008-5472.CAN-05-2103.
235 Changes in RPS14 expression levels during lenalidomide treatment in Low- and Intermediate-1-risk myelodysplastic syndromes with chromosome 5q deletion.Eur J Haematol. 2010 Sep;85(3):231-5. doi: 10.1111/j.1600-0609.2010.01473.x. Epub 2010 May 17.
236 A case example of a radiation-relevant adverse outcome pathway to lung cancer.Int J Radiat Biol. 2021;97(1):68-84. doi: 10.1080/09553002.2019.1704913. Epub 2020 Jan 9.
237 Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities.Eur J Hum Genet. 2011 Jan;19(1):3-9. doi: 10.1038/ejhg.2010.138. Epub 2010 Sep 15.
238 Adenovirus-induced alterations of the cell growth cycle: a requirement for expression of E1A but not of E1B.J Virol. 1983 Jan;45(1):192-9. doi: 10.1128/JVI.45.1.192-199.1983.
239 ZBTB7A mutations in acute myeloid leukaemia with t(8;21) translocation. Nat Commun. 2016 Jun 2;7:11733. doi: 10.1038/ncomms11733.
240 Cytogenetic abnormalities and genomic copy number variations in EPO (7q22) and SEC-61(7p11) genes in primary myelodysplastic syndromes.Blood Cells Mol Dis. 2016 Jul;59:52-7. doi: 10.1016/j.bcmd.2016.04.005. Epub 2016 Apr 13.
241 Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.Am J Hum Genet. 1994 Jul;55(1):21-6.
242 Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.DNA Repair (Amst). 2015 Nov;35:48-54. doi: 10.1016/j.dnarep.2015.09.022. Epub 2015 Sep 30.
243 Restoration of Replication Fork Stability in BRCA1- and BRCA2-Deficient Cells by Inactivation of SNF2-Family Fork Remodelers.Mol Cell. 2017 Oct 19;68(2):414-430.e8. doi: 10.1016/j.molcel.2017.09.036.
244 Chromosome instability caused by mutations in the genes involved in transcription and splicing.RNA Biol. 2019 Nov;16(11):1521-1525. doi: 10.1080/15476286.2019.1652523. Epub 2019 Aug 12.
245 The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers.Nucleic Acids Res. 2015 Jun 23;43(11):5394-408. doi: 10.1093/nar/gkv426. Epub 2015 May 4.
246 Speckle-type POZ protein, SPOP, is involved in the DNA damage response.Carcinogenesis. 2014 Aug;35(8):1691-7. doi: 10.1093/carcin/bgu022. Epub 2014 Jan 22.
247 Diagnosis of synovial sarcoma with the reverse transcriptase-polymerase chain reaction: analyses of 84 soft tissue and bone tumors.Diagn Mol Pathol. 1998 Apr;7(2):102-10. doi: 10.1097/00019606-199804000-00007.
248 Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities.Cytogenet Genome Res. 2016;149(3):165-170. doi: 10.1159/000448447. Epub 2016 Sep 9.
249 De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135.
250 Acute myeloid leukemia with del(9q) is characterized by frequent mutations of NPM1, DNMT3A, WT1 and low expression of TLE4.Genes Chromosomes Cancer. 2017 Jan;56(1):75-86. doi: 10.1002/gcc.22418. Epub 2016 Oct 25.
251 Amniotic fluid microvillar enzyme activity in fetal malformations.Clin Genet. 1990 Nov;38(5):340-5. doi: 10.1111/j.1399-0004.1990.tb03592.x.
252 Molecular cytogenetic aberrations in 21 Chinese patients with plasma cell leukemia.Int J Lab Hematol. 2009 Jun;31(3):338-43. doi: 10.1111/j.1751-553X.2008.01037.x. Epub 2008 Feb 18.
253 NUP98-NSD3 fusion gene in radiation-associated myelodysplastic syndrome with t(8;11)(p11;p15) and expression pattern of NSD family genes.Cancer Genet Cytogenet. 2009 Apr 15;190(2):108-12. doi: 10.1016/j.cancergencyto.2008.12.008.
254 Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective.Mol Med Rep. 2013 May;7(5):1710-4. doi: 10.3892/mmr.2013.1386. Epub 2013 Mar 20.
255 Concomitant aberrant methylation of p15 and MGMT genes in acute myeloid leukemia: association with a particular immunophenotype of blast cells.Med Oncol. 2012 Dec;29(5):3547-56. doi: 10.1007/s12032-012-0289-6. Epub 2012 Jul 7.
256 A rare polymorphic variant of NBS1 reduces DNA repair activity and elevates chromosomal instability.Cancer Res. 2014 Jul 15;74(14):3707-15. doi: 10.1158/0008-5472.CAN-13-3037. Epub 2014 May 15.
257 Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene.Genes Chromosomes Cancer. 2006 May;45(5):437-46. doi: 10.1002/gcc.20308.
258 Oncogenic K-ras cooperates with PML-RAR alpha to induce an acute promyelocytic leukemia-like disease.Blood. 2006 Sep 1;108(5):1708-15. doi: 10.1182/blood-2006-04-015040. Epub 2006 May 4.
259 Implementationof a genomic medicine multi-disciplinary team approach for rare diseasein the clinical setting: a prospective exome sequencingcase series.Genome Med. 2019 Jul 25;11(1):46. doi: 10.1186/s13073-019-0651-9.
260 SMYD5 Controls Heterochromatin and Chromosome Integrity during Embryonic Stem Cell Differentiation.Cancer Res. 2017 Dec 1;77(23):6729-6745. doi: 10.1158/0008-5472.CAN-17-0828. Epub 2017 Sep 26.