306 related articles for article (PubMed ID: 32246869)
21. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia.
Zhang H; Xiang B; Chen H; Chen X; Cai T
BMC Med Genet; 2019 Mar; 20(1):38. PubMed ID: 30841869
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Suleiman J; Riedhammer KM; Jicinsky T; Mundt M; Werner L; Gusic M; Burgemeister AL; Alsaif HS; Abdulrahim M; Moghrabi NN; Nicolas-Jilwan M; AlSayed M; Bi W; Sampath S; Alkuraya FS; El-Hattab AW
Hum Mutat; 2019 Nov; 40(11):1985-1992. PubMed ID: 31209944
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP; Palumbo P; Palumbo O; Di Muro E; Chetta M; Laforgia N; Resta N; Stella A; Castellana S; Mazza T; Castori M; Carella M; Bukvic N
Ital J Pediatr; 2020 May; 46(1):74. PubMed ID: 32460883
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.
Jang MA; Lee T; Lee J; Cho EH; Ki CS
Ann Lab Med; 2015 May; 35(3):362-5. PubMed ID: 25932447
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
Hsu RH; Lee CH; Chien YH; Lin SP; Hung MZ; Chen NC; Lin YL; Hwu WL; Lee NC
Mol Genet Genomic Med; 2023 Jun; 11(6):e2160. PubMed ID: 36849876
[TBL] [Abstract][Full Text] [Related]
34. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
[TBL] [Abstract][Full Text] [Related]
37. [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]
38. Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
van Slobbe M; van Haeringen A; Vissers LELM; Bijlsma EK; Rutten JW; Suerink M; Nibbeling EAR; Ruivenkamp CAL; Koene S
Eur J Pediatr; 2024 Jan; 183(1):345-355. PubMed ID: 37889289
[TBL] [Abstract][Full Text] [Related]
39. PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome.
Ohkawa T; Nishimura A; Kosaki K; Aoki-Nogami Y; Tomizawa D; Kashimada K; Morio T; Kato M; Mizutani S; Takagi M
J Hum Genet; 2022 Jan; 67(1):51-54. PubMed ID: 34341476
[TBL] [Abstract][Full Text] [Related]
40. Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
Zardadi S; Rayat S; Doabsari MH; Alishiri A; Keramatipour M; Shahri ZJ; Morovvati S
BMC Pediatr; 2021 Feb; 21(1):70. PubMed ID: 33557787
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
