196 related articles for article (PubMed ID: 31630891)
41. High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
Freire BL; Homma TK; Lerario AM; Seo GH; Han H; de Assis Funari MF; Gomes NL; Rosemberg C; Krepischi ACV; de Andrade Vasques G; Malaquias AC; de Lima Jorge AA
Am J Med Genet A; 2022 Sep; 188(9):2599-2604. PubMed ID: 35792504
[TBL] [Abstract][Full Text] [Related]
42. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Homma TK; Krepischi ACV; Furuya TK; Honjo RS; Malaquias AC; Bertola DR; Costa SS; Canton AP; Roela RA; Freire BL; Kim CA; Rosenberg C; Jorge AAL
Horm Res Paediatr; 2018; 89(1):13-21. PubMed ID: 29130988
[TBL] [Abstract][Full Text] [Related]
43. Genetic investigation of patients with tall stature.
Vasco de Albuquerque Albuquerque E; Ferreira de Assis Funari M; Pereira de Souza Quedas E; Sayuri Honjo Kawahira R; Soares Jallad R; Homma TK; Martin RM; Brito VN; Malaquias AC; Lerario AM; Rosenberg C; Victorino Krepischi AC; Ae Kim C; Arnhold IJP; Jorge AAL
Eur J Endocrinol; 2020 Feb; 182(2):139-147. PubMed ID: 31751304
[TBL] [Abstract][Full Text] [Related]
44. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B; Pehlivan D; Karaca E; Patel N; Charng WL; Gambin T; Gonzaga-Jauregui C; Sutton VR; Yesil G; Bozdogan ST; Tos T; Koparir A; Koparir E; Beck CR; Gu S; Aslan H; Yuregir OO; Al Rubeaan K; Alnaqeb D; Alshammari MJ; Bayram Y; Atik MM; Aydin H; Geckinli BB; Seven M; Ulucan H; Fenercioglu E; Ozen M; Jhangiani S; Muzny DM; Boerwinkle E; Tuysuz B; Alkuraya FS; Gibbs RA; Lupski JR
J Clin Invest; 2015 Feb; 125(2):636-51. PubMed ID: 25574841
[TBL] [Abstract][Full Text] [Related]
45. Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.
Liao L; Gan HW; Hwa V; Dattani M; Dauber A
Horm Res Paediatr; 2017; 88(5):364-370. PubMed ID: 28675896
[TBL] [Abstract][Full Text] [Related]
46. 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]
47. 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]
48. 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]
49. 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]
50. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
El Chehadeh S; Kerstjens-Frederikse WS; Thevenon J; Kuentz P; Bruel AL; Thauvin-Robinet C; Bensignor C; Dollfus H; Laugel V; Rivière JB; Duffourd Y; Bonnet C; Robert MP; Isaiko R; Straub M; Creuzot-Garcher C; Calvas P; Chassaing N; Loeys B; Reyniers E; Vandeweyer G; Kooy F; Hančárová M; Havlovicová M; Prchalová D; Sedláček Z; Gilissen C; Pfundt R; Wassink-Ruiter JSK; Faivre L
Eur J Hum Genet; 2016 Jan; 25(1):43-51. PubMed ID: 27804958
[TBL] [Abstract][Full Text] [Related]
51. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J; Drabova J; Holubova A; Vlckova M; Havlovicova M; Gregorova A; Pourova R; Romankova V; Moslerova V; Geryk J; Norambuena P; Krulisova V; Krepelova A; Macek M; Macek M
Eur J Med Genet; 2018 Jun; 61(6):315-321. PubMed ID: 29307790
[TBL] [Abstract][Full Text] [Related]
52. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Perge K; Capel E; Villanueva C; Gautheron J; Diallo S; Auclair M; Rondeau S; Morichon R; Brioude F; Jéru I; Rossi M; Nicolino M; Vigouroux C
Eur J Endocrinol; 2024 Feb; 190(2):151-164. PubMed ID: 38245004
[TBL] [Abstract][Full Text] [Related]
53. Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.
Singh K; Puri RD; Bijarnia-Mahay S; Lall M; Verma J; Saxena R; Kohli S; Thomas D; Saviour P; Verma IC
Indian Pediatr; 2022 Jun; 59(6):463-466. PubMed ID: 35695141
[TBL] [Abstract][Full Text] [Related]
54. New developments in the genetic diagnosis of short stature.
Jee YH; Baron J; Nilsson O
Curr Opin Pediatr; 2018 Aug; 30(4):541-547. PubMed ID: 29787394
[TBL] [Abstract][Full Text] [Related]
55. Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Weiss B; Eberle B; Roeth R; de Bruin C; Lui JC; Paramasivam N; Hinderhofer K; van Duyvenvoorde HA; Baron J; Wit JM; Rappold GA
Front Endocrinol (Lausanne); 2021; 12():660731. PubMed ID: 34194391
[TBL] [Abstract][Full Text] [Related]
56. [Siblings Seckel's syndrome 1 caused by ATR gene variants in a sibpair].
Qiu M; Liu Z; Chen X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):973-976. PubMed ID: 34625935
[TBL] [Abstract][Full Text] [Related]
57. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
Couch FJ; Shimelis H; Hu C; Hart SN; Polley EC; Na J; Hallberg E; Moore R; Thomas A; Lilyquist J; Feng B; McFarland R; Pesaran T; Huether R; LaDuca H; Chao EC; Goldgar DE; Dolinsky JS
JAMA Oncol; 2017 Sep; 3(9):1190-1196. PubMed ID: 28418444
[TBL] [Abstract][Full Text] [Related]
58. SOFT syndrome in a patient from Chile.
Saida K; Silva S; Solar B; Fujita A; Hamanaka K; Mitsuhashi S; Koshimizu E; Mizuguchi T; Miyatake S; Takata A; Miyake N; Matsumoto N
Am J Med Genet A; 2019 Mar; 179(3):338-340. PubMed ID: 30569574
[TBL] [Abstract][Full Text] [Related]
59. 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]
60. 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]
[Previous] [Next] [New Search]
