170 related articles for article (PubMed ID: 34906464)
21. Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
Wang JC; Ross L; Mahon LW; Owen R; Hemmat M; Wang BT; El Naggar M; Kopita KA; Randolph LM; Chase JM; Matas Aguilera MJ; Siles JL; Church JA; Hauser N; Shen JJ; Jones MC; Wierenga KJ; Jiang Z; Haddadin M; Boyar FZ; Anguiano A; Strom CM; Sahoo T
Eur J Hum Genet; 2015 May; 23(5):663-71. PubMed ID: 25118026
[TBL] [Abstract][Full Text] [Related]
22. Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14.
Lindgren V; Cobian K; Bhat G
Am J Med Genet A; 2021 May; 185(5):1538-1543. PubMed ID: 33595182
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing.
Grote L; Myers M; Lovell A; Saal H; Lipscomb Sund K
Genet Med; 2012 Dec; 14(12):971-6. PubMed ID: 22791212
[TBL] [Abstract][Full Text] [Related]
25. [Research progress on uniparental disomy in cancer].
Chen D; Qi M
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2019 Jul; 48(5):560-566. PubMed ID: 31901032
[TBL] [Abstract][Full Text] [Related]
26. Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.
Tamura M; Isojima T; Kawashima M; Yoshida H; Yamamoto K; Kitaoka T; Namba N; Oka A; Ozono K; Tokunaga K; Kitanaka S
PLoS One; 2015; 10(7):e0131157. PubMed ID: 26153892
[TBL] [Abstract][Full Text] [Related]
27. Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.
Chaves TF; Oliveira LF; Ocampos M; Barbato IT; de Luca GR; Barbato Filho JH; de Camargo Pinto LL; Bernardi P; Maris AF
BMC Med Genomics; 2019 Mar; 12(1):50. PubMed ID: 30866944
[TBL] [Abstract][Full Text] [Related]
28. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Waggoner D; Wain KE; Dubuc AM; Conlin L; Hickey SE; Lamb AN; Martin CL; Morton CC; Rasmussen K; Schuette JL; Schwartz S; Miller DT;
Genet Med; 2018 Oct; 20(10):1105-1113. PubMed ID: 29915380
[TBL] [Abstract][Full Text] [Related]
29. Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory.
Sund KL; Rehder CW
Hum Hered; 2014; 77(1-4):217-24. PubMed ID: 25060286
[TBL] [Abstract][Full Text] [Related]
30. Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.
Grote L; Myers M; Lovell A; Saal H; Sund KL
Am J Med Genet A; 2014 Jan; 164A(1):87-98. PubMed ID: 24243712
[TBL] [Abstract][Full Text] [Related]
31. Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
Sahoo T; Wang JC; Elnaggar MM; Sanchez-Lara P; Ross LP; Mahon LW; Hafezi K; Deming A; Hinman L; Bruno Y; Bartley JA; Liehr T; Anguiano A; Jones M
Eur J Hum Genet; 2015 Jan; 23(1):61-6. PubMed ID: 24713661
[TBL] [Abstract][Full Text] [Related]
32. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
Sezer A; Kayhan G; Koç A; Ergün MA; Perçin FE
Cytogenet Genome Res; 2020; 160(6):309-315. PubMed ID: 32599602
[TBL] [Abstract][Full Text] [Related]
33. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
Matalonga L; Laurie S; Papakonstantinou A; Piscia D; Mereu E; Bullich G; Thompson R; Horvath R; Pérez-Jurado L; Riess O; Gut I; van Ommen GJ; Lochmüller H; Beltran S;
J Mol Diagn; 2020 Sep; 22(9):1205-1215. PubMed ID: 32619640
[TBL] [Abstract][Full Text] [Related]
34. Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics.
Eggermann T
Genes (Basel); 2020 Dec; 11(12):. PubMed ID: 33287348
[TBL] [Abstract][Full Text] [Related]
35. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Rehder C; Bean LJH; Bick D; Chao E; Chung W; Das S; O'Daniel J; Rehm H; Shashi V; Vincent LM;
Genet Med; 2021 Aug; 23(8):1399-1415. PubMed ID: 33927380
[TBL] [Abstract][Full Text] [Related]
36. A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.
Fu J; Shen S; Cheng J; Lv H; Fu J
J Cell Mol Med; 2020 Jul; 24(14):7743-7750. PubMed ID: 32449591
[TBL] [Abstract][Full Text] [Related]
37. Uniparental disomy: can SNP array data be used for diagnosis?
Tucker T; Schlade-Bartusiak K; Eydoux P; Nelson TN; Brown L
Genet Med; 2013; 14(8):753-756. PubMed ID: 22538256
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Shao L; Akkari Y; Cooley LD; Miller DT; Seifert BA; Wolff DJ; Mikhail FM;
Genet Med; 2021 Oct; 23(10):1818-1829. PubMed ID: 34131312
[TBL] [Abstract][Full Text] [Related]
40. Effect of uniparental disomy in parentage testing.
Ma D; Lin Y; Zhang R; Wang S; Hu W; Ye M; Gao H; Wang L; Song Y; Guo H
Leg Med (Tokyo); 2024 Mar; 67():102381. PubMed ID: 38154315
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
