338 related articles for article (PubMed ID: 29396143)
1. Clinical significance of germline copy number variation in susceptibility of human diseases.
Hu L; Yao X; Huang H; Guo Z; Cheng X; Xu Y; Shen Y; Xu B; Li D
J Genet Genomics; 2018 Jan; 45(1):3-12. PubMed ID: 29396143
[TBL] [Abstract][Full Text] [Related]
2. Genomic disorders 20 years on-mechanisms for clinical manifestations.
Harel T; Lupski JR
Clin Genet; 2018 Mar; 93(3):439-449. PubMed ID: 28950406
[TBL] [Abstract][Full Text] [Related]
3. Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies.
Nakatochi M; Kushima I; Ozaki N
J Hum Genet; 2021 Jan; 66(1):25-37. PubMed ID: 32958875
[TBL] [Abstract][Full Text] [Related]
4. Copy number variations in the genome of the Qatari population.
Fakhro KA; Yousri NA; Rodriguez-Flores JL; Robay A; Staudt MR; Agosto-Perez F; Salit J; Malek JA; Suhre K; Jayyousi A; Zirie M; Stadler D; Mezey JG; Crystal RG
BMC Genomics; 2015 Oct; 16():834. PubMed ID: 26490036
[TBL] [Abstract][Full Text] [Related]
5. [Copy number variations in the human genome: their mutational mechanisms and roles in diseases].
Du RQ; Jin L; Zhang F
Yi Chuan; 2011 Aug; 33(8):857-69. PubMed ID: 21831802
[TBL] [Abstract][Full Text] [Related]
6. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J; Zhou Y; Liu S; Song X; Yang XZ; Fan Y; Chen W; Akdemir ZC; Yan Z; Zuo Y; Du R; Liu Z; Yuan B; Zhao S; Liu G; Chen Y; Zhao Y; Lin M; Zhu Q; Niu Y; Liu P; Ikegawa S; Song YQ; Posey JE; Qiu G; ; Zhang F; Wu Z; Lupski JR; Wu N
Hum Genet; 2018 Jul; 137(6-7):553-567. PubMed ID: 30019117
[TBL] [Abstract][Full Text] [Related]
7. Current analysis platforms and methods for detecting copy number variation.
Li W; Olivier M
Physiol Genomics; 2013 Jan; 45(1):1-16. PubMed ID: 23132758
[TBL] [Abstract][Full Text] [Related]
8. Detection of copy number variation using SNP genotyping.
Cooper GM; Mefford HC
Methods Mol Biol; 2011; 767():243-52. PubMed ID: 21822880
[TBL] [Abstract][Full Text] [Related]
9. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R; Paul J; Kennemer M; Lincoln SE; Olivares E; Nussbaum RL; Aradhya S
Genet Med; 2019 Jan; 21(1):114-123. PubMed ID: 29895855
[TBL] [Abstract][Full Text] [Related]
10. Copy number variations and human genetic disease.
Mikhail FM
Curr Opin Pediatr; 2014 Dec; 26(6):646-52. PubMed ID: 25198053
[TBL] [Abstract][Full Text] [Related]
11. Germline copy number variations in BRCA1-associated ovarian cancer patients.
Yoshihara K; Tajima A; Adachi S; Quan J; Sekine M; Kase H; Yahata T; Inoue I; Tanaka K
Genes Chromosomes Cancer; 2011 Mar; 50(3):167-77. PubMed ID: 21213370
[TBL] [Abstract][Full Text] [Related]
12. Implications of gene copy-number variation in health and diseases.
Almal SH; Padh H
J Hum Genet; 2012 Jan; 57(1):6-13. PubMed ID: 21956041
[TBL] [Abstract][Full Text] [Related]
13. Structural variation in the human genome and its role in disease.
Stankiewicz P; Lupski JR
Annu Rev Med; 2010; 61():437-55. PubMed ID: 20059347
[TBL] [Abstract][Full Text] [Related]
14. Application of Nexus copy number software for CNV detection and analysis.
Darvishi K
Curr Protoc Hum Genet; 2010 Apr; Chapter 4():Unit 4.14.1-28. PubMed ID: 20373515
[TBL] [Abstract][Full Text] [Related]
15. Rare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma.
Shi J; Zhou W; Zhu B; Hyland PL; Bennett H; Xiao Y; Zhang X; Burke LS; Song L; Hsu CH; Yan C; Chen Q; Meerzaman D; Dagnall CL; Burdette L; Hicks B; Freedman ND; Chanock SJ; Yeager M; Tucker MA; Goldstein AM; Yang XR
J Invest Dermatol; 2016 Dec; 136(12):2436-2443. PubMed ID: 27476724
[TBL] [Abstract][Full Text] [Related]
16. Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.
Araujo AN; Moraes L; França MI; Hakonarson H; Li J; Pellegrino R; Maciel RM; Cerutti JM
J Clin Endocrinol Metab; 2014 Jun; 99(6):E1104-12. PubMed ID: 24601688
[TBL] [Abstract][Full Text] [Related]
17. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
Lupski JR; Stankiewicz P
PLoS Genet; 2005 Dec; 1(6):e49. PubMed ID: 16444292
[TBL] [Abstract][Full Text] [Related]
18. [Copy-number variation: a new pattern of structural diversity in genome].
Wu ZJ; Jin W
Yi Chuan; 2009 Apr; 31(4):339-47. PubMed ID: 19586885
[TBL] [Abstract][Full Text] [Related]
19. Identification of copy number variation hotspots in human populations.
Fu W; Zhang F; Wang Y; Gu X; Jin L
Am J Hum Genet; 2010 Oct; 87(4):494-504. PubMed ID: 20920665
[TBL] [Abstract][Full Text] [Related]
20. Origins and functional impact of copy number variation in the human genome.
Conrad DF; Pinto D; Redon R; Feuk L; Gokcumen O; Zhang Y; Aerts J; Andrews TD; Barnes C; Campbell P; Fitzgerald T; Hu M; Ihm CH; Kristiansson K; Macarthur DG; Macdonald JR; Onyiah I; Pang AW; Robson S; Stirrups K; Valsesia A; Walter K; Wei J; ; Tyler-Smith C; Carter NP; Lee C; Scherer SW; Hurles ME
Nature; 2010 Apr; 464(7289):704-12. PubMed ID: 19812545
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
