185 related articles for article (PubMed ID: 37745854)
1. Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.
Xie M; Xue J; Zhang Y; Zhou Y; Yu Q; Li H; Li Q
Front Genet; 2023; 14():1248544. PubMed ID: 37745854
[No Abstract] [Full Text] [Related]
2. Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping.
Zhang S; Pei Z; Lei C; Zhu S; Deng K; Zhou J; Yang J; Lu D; Sun X; Xu C; Xu C
J Med Genet; 2023 Mar; 60(3):274-284. PubMed ID: 35710108
[TBL] [Abstract][Full Text] [Related]
3. Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping.
Rao H; Zhang H; Zou Y; Ma P; Huang T; Yuan H; Zhou J; Lu W; Li Q; Huang S; Liu Y; Yang B
Front Genet; 2023; 14():1248755. PubMed ID: 37732322
[No Abstract] [Full Text] [Related]
4. Detection of complex chromosome rearrangements using optical genome mapping.
Qu J; Li S; Yu D
Gene; 2023 Oct; 884():147688. PubMed ID: 37543218
[TBL] [Abstract][Full Text] [Related]
5. Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report.
Wang Y; Bi S; Shi X; Dai L
Appl Clin Genet; 2024; 17():63-69. PubMed ID: 38828444
[TBL] [Abstract][Full Text] [Related]
6. Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing.
Ren J; Keqie Y; Li Y; Li L; Luo M; Gao M; Peng C; Chen H; Hu T; Chen X; Liu S
Front Genet; 2023; 14():1132404. PubMed ID: 37065489
[TBL] [Abstract][Full Text] [Related]
7. Identification of complex and cryptic chromosomal rearrangements by optical genome mapping.
Shi S; Huang P; Yan R; Li R
Mol Cytogenet; 2023 Apr; 16(1):5. PubMed ID: 37101225
[TBL] [Abstract][Full Text] [Related]
8. Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies.
Tan YQ; Tan YQ; Cheng DH
Mol Cytogenet; 2020; 13():15. PubMed ID: 32391085
[TBL] [Abstract][Full Text] [Related]
9. Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement.
Barseghyan H; Pang AWC; Clifford B; Serrano MA; Chaubey A; Hastie AR
Genes (Basel); 2023 Sep; 14(10):. PubMed ID: 37895217
[TBL] [Abstract][Full Text] [Related]
10. Exceptional complex chromosomal rearrangements in three generations.
Kartapradja H; Marzuki NS; Pertile MD; Francis D; Suciati LP; Anggaratri HW; Ambarwati DD; Idris FP; Lesmana H; Trimarsanto H; Paramayuda C; Harahap AR
Case Rep Genet; 2015; 2015():321014. PubMed ID: 25722897
[TBL] [Abstract][Full Text] [Related]
11. Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.
Dai P; Zhu X; Pei Y; Chen P; Li J; Gao Z; Liang Y; Kong X
Mol Genet Genomic Med; 2022 Jun; 10(6):e1936. PubMed ID: 35384386
[TBL] [Abstract][Full Text] [Related]
12. Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies.
Shim Y; Koo YK; Shin S; Lee ST; Lee KA; Choi JR
Ann Lab Med; 2024 Jul; 44(4):324-334. PubMed ID: 38433573
[TBL] [Abstract][Full Text] [Related]
13. Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.
Barseghyan H; Eisenreich D; Lindt E; Wendlandt M; Scharf F; Benet-Pages A; Sendelbach K; Neuhann T; Abicht A; Holinski-Feder E; Koehler U
Genes (Basel); 2024 Mar; 15(3):. PubMed ID: 38540401
[TBL] [Abstract][Full Text] [Related]
14. Optical genome mapping in acute myeloid leukemia: a multicenter evaluation.
Levy B; Baughn LB; Akkari Y; Chartrand S; LaBarge B; Claxton D; Lennon PA; Cujar C; Kolhe R; Kroeger K; Pitel B; Sahajpal N; Sathanoori M; Vlad G; Zhang L; Fang M; Kanagal-Shamanna R; Broach JR
Blood Adv; 2023 Apr; 7(7):1297-1307. PubMed ID: 36417763
[TBL] [Abstract][Full Text] [Related]
15. Optical Genome Mapping for a Patient with a Congenital Disorder and Chromosomal Translocation.
Ogiwara Y; Hattori A; Ikegawa K; Hasegawa Y; Kuroki Y; Miyado M; Fukami M
Cytogenet Genome Res; 2022; 162(11-12):617-624. PubMed ID: 37231804
[TBL] [Abstract][Full Text] [Related]
16. Optical Genome Mapping as an Alternative to FISH-Based Cytogenetic Assessment in Chronic Lymphocytic Leukemia.
Valkama A; Vorimo S; Kumpula TA; Räsänen H; Savolainen ER; Pylkäs K; Mantere T
Cancers (Basel); 2023 Feb; 15(4):. PubMed ID: 36831635
[TBL] [Abstract][Full Text] [Related]
17. Historical and Clinical Perspectives on Chromosomal Translocations.
Wilch ES; Morton CC
Adv Exp Med Biol; 2018; 1044():1-14. PubMed ID: 29956287
[TBL] [Abstract][Full Text] [Related]
18. 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.
Zhang Q; Wang Y; Zhou J; Zhou R; Liu A; Meng L; Ji X; Hu P; Xu Z
Mol Genet Genomic Med; 2023 Oct; 11(10):e2248. PubMed ID: 37475652
[TBL] [Abstract][Full Text] [Related]
19. Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies.
Zhang J; Zhang B; Liu T; Xie H; Zhai J
Mol Cytogenet; 2020; 13():26. PubMed ID: 32625247
[TBL] [Abstract][Full Text] [Related]
20. Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay.
Hao D; Li Y; Chen L; Wang X; Wang M; Yu Y
Mol Cytogenet; 2021 Jul; 14(1):35. PubMed ID: 34238319
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
