182 related articles for article (PubMed ID: 35773769)
1. [Identification of a novel frameshift variant in the KMT2A gene of a child with Wiedemann-Steiner syndrome].
Wu R; Tang W; Qiu K; Zhang X; Meng Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jun; 39(6):630-633. PubMed ID: 35773769
[TBL] [Abstract][Full Text] [Related]
2. [Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case].
Xue H; Feng Y; Zhang C; Ma L; Wu J; Li Q; Gao T; Cao Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):138-140. PubMed ID: 33565066
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.
Reynisdottir T; Anderson KJ; Boukas L; Bjornsson HT
PLoS Genet; 2022 Jun; 18(6):e1010278. PubMed ID: 35727845
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.
Nardello R; Mangano GD; Fontana A; Gagliardo C; Midiri F; Borgia P; Brighina F; Raieli V; Mangano S; Salpietro V
Eur J Med Genet; 2021 Feb; 64(2):104133. PubMed ID: 33387673
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.
Lebrun N; Giurgea I; Goldenberg A; Dieux A; Afenjar A; Ghoumid J; Diebold B; Mietton L; Briand-Suleau A; Billuart P; Bienvenu T
Eur J Hum Genet; 2018 Jan; 26(1):107-116. PubMed ID: 29203834
[TBL] [Abstract][Full Text] [Related]
13. Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.
Li N; Wang Y; Yang Y; Wang P; Huang H; Xiong S; Sun L; Cheng M; Song C; Cheng X; Ding Y; Chang G; Chen Y; Xu Y; Yu T; Yao RE; Shen Y; Wang X; Wang J
Orphanet J Rare Dis; 2018 Oct; 13(1):178. PubMed ID: 30305169
[TBL] [Abstract][Full Text] [Related]
14. Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.
Matis T; Michaud V; Van-Gils J; Raclet V; Plaisant C; Fergelot P; Lasseaux E; Arveiler B; Trimouille A
J Gene Med; 2020 Aug; 22(8):e3197. PubMed ID: 32246869
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene].
Ai Q; Chen Y; Chen S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):222-225. PubMed ID: 36709945
[TBL] [Abstract][Full Text] [Related]
17. RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.
Mietton L; Lebrun N; Giurgea I; Goldenberg A; Saintpierre B; Hamroune J; Afenjar A; Billuart P; Bienvenu T
Neuromolecular Med; 2018 Sep; 20(3):409-417. PubMed ID: 30014449
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
