285 related articles for article (PubMed ID: 31607426)
1. Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population.
Nakka P; Pattillo Smith S; O'Donnell-Luria AH; McManus KF; ; Mountain JL; Ramachandran S; Sathirapongsasuti JF
Am J Hum Genet; 2019 Nov; 105(5):921-932. PubMed ID: 31607426
[TBL] [Abstract][Full Text] [Related]
2. [Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy].
Zhu L; Zhang H; Li Z; Liu W; Sun X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1140-1144. PubMed ID: 34839523
[TBL] [Abstract][Full Text] [Related]
3. [Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy].
Zhu L; Zhang H; Li Z; Liu W; Sun X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1140-1144. PubMed ID: 34729761
[TBL] [Abstract][Full Text] [Related]
4. Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
Polonis K; Lopes JL; Cabral H; Babcock HE; Kline L; Ruiz KM; Schwartz S; Hasadsri L; Rowsey RA; Hoppman NL
Am J Med Genet A; 2023 Jul; 191(7):1978-1983. PubMed ID: 37134191
[TBL] [Abstract][Full Text] [Related]
5. Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.
Scheuvens R; Begemann M; Soellner L; Meschede D; Raabe-Meyer G; Elbracht M; Schubert R; Eggermann T
Clin Genet; 2017 Jul; 92(1):45-51. PubMed ID: 28032339
[TBL] [Abstract][Full Text] [Related]
6. Genome-wide UPD screening in patients with intellectual disability.
Schroeder C; Ekici AB; Moog U; Grasshoff U; Mau-Holzmann U; Sturm M; Vosseler V; Poths S; Rappold G; Riess A; Riess O; Dufke A; Bonin M
Eur J Hum Genet; 2014 Oct; 22(10):1233-5. PubMed ID: 24801762
[TBL] [Abstract][Full Text] [Related]
7. Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Gonzales PR; Andersen EF; Brown TR; Horner VL; Horwitz J; Rehder CW; Rudy NL; Robin NH; Thorland EC; On Behalf Of The Acmg Laboratory Quality Assurance Committee
Genet Med; 2022 Feb; 24(2):255-261. PubMed ID: 34906464
[TBL] [Abstract][Full Text] [Related]
8. The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
Eggermann T; Oehl-Jaschkowitz B; Dicks S; Thomas W; Kanber D; Albrecht B; Begemann M; Kurth I; Beygo J; Buiting K
Mol Genet Genomic Med; 2017 Nov; 5(6):668-677. PubMed ID: 29178649
[TBL] [Abstract][Full Text] [Related]
9. Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Wang L; Liu P; Bi W; Sim T; Wang X; Walkiewicz M; Leduc MS; Meng L; Xia F; Eng CM; Yang Y; Yuan B; Dai H
Mol Genet Genomic Med; 2021 Nov; 9(11):e1792. PubMed ID: 34587367
[TBL] [Abstract][Full Text] [Related]
10. Accurate detection of clinically relevant uniparental disomy from exome sequencing data.
Yauy K; de Leeuw N; Yntema HG; Pfundt R; Gilissen C
Genet Med; 2020 Apr; 22(4):803-808. PubMed ID: 31767986
[TBL] [Abstract][Full Text] [Related]
11. Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes.
Hara-Isono K; Matsubara K; Nakamura A; Sano S; Inoue T; Kawashima S; Fuke T; Yamazawa K; Fukami M; Ogata T; Kagami M
Clin Epigenetics; 2023 May; 15(1):78. PubMed ID: 37147716
[TBL] [Abstract][Full Text] [Related]
12. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Conlin LK; Thiel BD; Bonnemann CG; Medne L; Ernst LM; Zackai EH; Deardorff MA; Krantz ID; Hakonarson H; Spinner NB
Hum Mol Genet; 2010 Apr; 19(7):1263-75. PubMed ID: 20053666
[TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis and genetic counseling of uniparental disomy.
Chien SC; Chen CP; Liou JD
Taiwan J Obstet Gynecol; 2022 Mar; 61(2):210-215. PubMed ID: 35361378
[TBL] [Abstract][Full Text] [Related]
14. SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory.
Ngo C; Baluyot M; Bennetts B; Carmichael J; Clark A; Darmanian A; Gayagay T; Jones L; Nash B; Clark M; Jose N; Robinson S; St Heaps L; Wright D
Pathology; 2023 Oct; 55(6):818-826. PubMed ID: 37414616
[TBL] [Abstract][Full Text] [Related]
15. Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations.
Kim SR; Shaffer LG
Genet Test; 2002; 6(3):163-8. PubMed ID: 12490055
[TBL] [Abstract][Full Text] [Related]
16. Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
Santoro SL; Hashimoto S; McKinney A; Mihalic Mosher T; Pyatt R; Reshmi SC; Astbury C; Hickey SE
Cytogenet Genome Res; 2017; 152(2):105-109. PubMed ID: 28746920
[TBL] [Abstract][Full Text] [Related]
17. Global analysis of uniparental disomy using high density genotyping arrays.
Bruce S; Leinonen R; Lindgren CM; Kivinen K; Dahlman-Wright K; Lipsanen-Nyman M; Hannula-Jouppi K; Kere J
J Med Genet; 2005 Nov; 42(11):847-51. PubMed ID: 15879501
[TBL] [Abstract][Full Text] [Related]
18. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.
Engel E
Eur J Hum Genet; 2006 Nov; 14(11):1158-69. PubMed ID: 16724013
[TBL] [Abstract][Full Text] [Related]
19. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Carvalho CMB; Coban-Akdemir Z; Hijazi H; Yuan B; Pendleton M; Harrington E; Beaulaurier J; Juul S; Turner DJ; Kanchi RS; Jhangiani SN; Muzny DM; Gibbs RA; ; Stankiewicz P; Belmont JW; Shaw CA; Cheung SW; Hanchard NA; Sutton VR; Bader PI; Lupski JR
Genome Med; 2019 Apr; 11(1):25. PubMed ID: 31014393
[TBL] [Abstract][Full Text] [Related]
20. Uniparental disomy in a population of 32,067 clinical exome trios.
Scuffins J; Keller-Ramey J; Dyer L; Douglas G; Torene R; Gainullin V; Juusola J; Meck J; Retterer K
Genet Med; 2021 Jun; 23(6):1101-1107. PubMed ID: 33495530
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
