276 related articles for article (PubMed ID: 25929198)
1. A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.
Dunkerton S; Field M; Cho V; Bertram E; Whittle B; Groves A; Goel H
Am J Med Genet A; 2015 Sep; 167A(9):2182-7. PubMed ID: 25929198
[TBL] [Abstract][Full Text] [Related]
2. A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.
Chen M; Liu R; Wu C; Li X; Wang Y
Mol Biol Rep; 2019 Oct; 46(5):5555-5559. PubMed ID: 31250358
[TBL] [Abstract][Full Text] [Related]
3. Wiedemann-Steiner syndrome in two patients from Portugal.
Grangeia A; Leão M; Moura CP
Am J Med Genet A; 2020 Jan; 182(1):25-28. PubMed ID: 31710778
[TBL] [Abstract][Full Text] [Related]
4. The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.
Feldman HR; Dlouhy SR; Lah MD; Payne KK; Weaver DD
Am J Med Genet A; 2019 Feb; 179(2):300-305. PubMed ID: 30549396
[TBL] [Abstract][Full Text] [Related]
5. Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.
Jinxiu L; Shuimei L; Ming X; Jonathan LC; Xiangju L; Wenyuan D
Medicine (Baltimore); 2020 Apr; 99(16):e19813. PubMed ID: 32311999
[TBL] [Abstract][Full Text] [Related]
6. Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome.
Luo S; Bi B; Zhang W; Zhou R; Chen W; Zhao P; Huang Y; Yuan L; He X
Mol Genet Genomic Med; 2021 Oct; 9(10):e1798. PubMed ID: 34469078
[TBL] [Abstract][Full Text] [Related]
7. Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Giangiobbe S; Caraffi SG; Ivanovski I; Maini I; Pollazzon M; Rosato S; Trimarchi G; Lauriello A; Marinelli M; Nicoli D; Baldo C; Laurie S; Flores-Daboub J; Provenzano A; Andreucci E; Peluso F; Rizzo R; Stewart H; Lachlan K; Bayat A; Napoli M; Carboni G; Baker J; Mendel A; Piatelli G; Pantaleoni C; Mattina T; Prontera P; Mendelsohn NJ; Giglio S; Zuffardi O; Garavelli L
Am J Med Genet A; 2020 Dec; 182(12):2877-2886. PubMed ID: 33043602
[TBL] [Abstract][Full Text] [Related]
8. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
Strom SP; Lozano R; Lee H; Dorrani N; Mann J; O'Lague PF; Mans N; Deignan JL; Vilain E; Nelson SF; Grody WW; Quintero-Rivera F
BMC Med Genet; 2014 May; 15():49. PubMed ID: 24886118
[TBL] [Abstract][Full Text] [Related]
9. Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report.
Wang X; Zhang G; Lu Y; Luo X; Wu W
Mol Genet Genomic Med; 2021 Jan; 9(1):e1533. PubMed ID: 33325147
[TBL] [Abstract][Full Text] [Related]
10. Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.
Enokizono T; Ohto T; Tanaka R; Tanaka M; Suzuki H; Sakai A; Imagawa K; Fukushima H; Iwabuti A; Fukushima T; Sumazaki R; Uehara T; Takenouchi T; Kosaki K
Am J Med Genet A; 2017 Oct; 173(10):2821-2825. PubMed ID: 28815892
[TBL] [Abstract][Full Text] [Related]
11. Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
Stellacci E; Onesimo R; Bruselles A; Pizzi S; Battaglia D; Leoni C; Zampino G; Tartaglia M
Am J Med Genet A; 2016 Sep; 170(9):2389-93. PubMed ID: 27320412
[TBL] [Abstract][Full Text] [Related]
12. Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
Min Ko J; Cho JS; Yoo Y; Seo J; Choi M; Chae JH; Lee HR; Cho TJ
J Child Neurol; 2017 Feb; 32(2):237-242. PubMed ID: 27777327
[TBL] [Abstract][Full Text] [Related]
13. Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.
Arora V; Puri RD; Bijarnia-Mahay S; Verma IC
Am J Med Genet A; 2020 May; 182(5):953-956. PubMed ID: 32128942
[TBL] [Abstract][Full Text] [Related]
14. Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
Miyake N; Tsurusaki Y; Koshimizu E; Okamoto N; Kosho T; Brown NJ; Tan TY; Yap PJ; Suzumura H; Tanaka T; Nagai T; Nakashima M; Saitsu H; Niikawa N; Matsumoto N
Clin Genet; 2016 Jan; 89(1):115-9. PubMed ID: 25810209
[TBL] [Abstract][Full Text] [Related]
15. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
Aggarwal A; Rodriguez-Buritica DF; Northrup H
Eur J Med Genet; 2017 Jun; 60(6):285-288. PubMed ID: 28359930
[TBL] [Abstract][Full Text] [Related]
16. Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.
Ramirez-Montaño D; Pachajoa H
Colomb Med (Cali); 2019 Mar; 50(1):40-45. PubMed ID: 31168168
[TBL] [Abstract][Full Text] [Related]
17. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S; Afenjar A; Smol T; Piton A; Gérard B; Alembik Y; Bienvenu T; Boursier G; Boute O; Colson C; Cordier MP; Cormier-Daire V; Delobel B; Doco-Fenzy M; Duban-Bedu B; Fradin M; Geneviève D; Goldenberg A; Grelet M; Haye D; Heron D; Isidor B; Keren B; Lacombe D; Lèbre AS; Lesca G; Masurel A; Mathieu-Dramard M; Nava C; Pasquier L; Petit A; Philip N; Piard J; Rondeau S; Saugier-Veber P; Sukno S; Thevenon J; Van-Gils J; Vincent-Delorme C; Willems M; Schaefer E; Morin G
Clin Genet; 2018 Jul; 94(1):141-152. PubMed ID: 29574747
[TBL] [Abstract][Full Text] [Related]
18. De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Jones WD; Dafou D; McEntagart M; Woollard WJ; Elmslie FV; Holder-Espinasse M; Irving M; Saggar AK; Smithson S; Trembath RC; Deshpande C; Simpson MA
Am J Hum Genet; 2012 Aug; 91(2):358-64. PubMed ID: 22795537
[TBL] [Abstract][Full Text] [Related]
19. Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
Sun Y; Hu G; Liu H; Zhang X; Huang Z; Yan H; Wang L; Fan Y; Gu X; Yu Y
Am J Med Genet A; 2017 Feb; 173(2):510-514. PubMed ID: 27759909
[TBL] [Abstract][Full Text] [Related]
20. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE; Campbell IM; Harr MH; Gold N; Li D; Bjornsson HT; Cohen JS; Fahrner JA; Fatemi A; Harris JR; Nowak C; Stevens CA; Grand K; Au M; Graham JM; Sanchez-Lara PA; Campo MD; Jones MC; Abdul-Rahman O; Alkuraya FS; Bassetti JA; Bergstrom K; Bhoj E; Dugan S; Kaplan JD; Derar N; Gripp KW; Hauser N; Innes AM; Keena B; Kodra N; Miller R; Nelson B; Nowaczyk MJ; Rahbeeni Z; Ben-Shachar S; Shieh JT; Slavotinek A; Sobering AK; Abbott MA; Allain DC; Amlie-Wolf L; Au PYB; Bedoukian E; Beek G; Barry J; Berg J; Bernstein JA; Cytrynbaum C; Chung BH; Donoghue S; Dorrani N; Eaton A; Flores-Daboub JA; Dubbs H; Felix CA; Fong CT; Fung JLF; Gangaram B; Goldstein A; Greenberg R; Ha TK; Hersh J; Izumi K; Kallish S; Kravets E; Kwok PY; Jobling RK; Knight Johnson AE; Kushner J; Lee BH; Levin B; Lindstrom K; Manickam K; Mardach R; McCormick E; McLeod DR; Mentch FD; Minks K; Muraresku C; Nelson SF; Porazzi P; Pichurin PN; Powell-Hamilton NN; Powis Z; Ritter A; Rogers C; Rohena L; Ronspies C; Schroeder A; Stark Z; Starr L; Stoler J; Suwannarat P; Velinov M; Weksberg R; Wilnai Y; Zadeh N; Zand DJ; Falk MJ; Hakonarson H; Zackai EH; Quintero-Rivera F
Am J Med Genet A; 2021 Jun; 185(6):1649-1665. PubMed ID: 33783954
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
