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6. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Lesca G; Moizard MP; Bussy G; Boggio D; Hu H; Haas SA; Ropers HH; Kalscheuer VM; Des Portes V; Labalme A; Sanlaville D; Edery P; Raynaud M; Lespinasse J Am J Med Genet A; 2013 Dec; 161A(12):3063-71. PubMed ID: 24039113 [TBL] [Abstract][Full Text] [Related]
7. Mutations in MED12 cause X-linked Ohdo syndrome. Vulto-van Silfhout AT; de Vries BB; van Bon BW; Hoischen A; Ruiterkamp-Versteeg M; Gilissen C; Gao F; van Zwam M; Harteveld CL; van Essen AJ; Hamel BC; Kleefstra T; Willemsen MA; Yntema HG; van Bokhoven H; Brunner HG; Boyer TG; de Brouwer AP Am J Hum Genet; 2013 Mar; 92(3):401-6. PubMed ID: 23395478 [TBL] [Abstract][Full Text] [Related]
8. MED12 Mutation in Two Families with X-Linked Ohdo Syndrome. Rocchetti L; Evangelista E; De Falco L; Savarese G; Savarese P; Ruggiero R; D'Amore L; Sensi A; Fico A Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573309 [TBL] [Abstract][Full Text] [Related]
9. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Maia N; Ibarluzea N; Misra-Isrie M; Koboldt DC; Marques I; Soares G; Santos R; Marcelis CLM; Keski-Filppula R; Guitart M; Gabau Vila E; Lehman A; Hickey S; Mori M; Terhal P; Valenzuela I; Lasa-Aranzasti A; Cueto-González AM; Chhouk BH; Yeh RC; Neil JE; Abu-Libde B; Kleefstra T; Elting MW; Császár A; Kárteszi J; Bessenyei B; van Bokhoven H; Jorge P; van Hagen JM; de Brouwer APM Am J Med Genet A; 2023 Jan; 191(1):135-143. PubMed ID: 36271811 [TBL] [Abstract][Full Text] [Related]
10. MED12 related disorders. Graham JM; Schwartz CE Am J Med Genet A; 2013 Nov; 161A(11):2734-40. PubMed ID: 24123922 [TBL] [Abstract][Full Text] [Related]
11. A novel variant in MED12 gene: Further delineation of phenotype. Narayanan DL; Phadke SR Am J Med Genet A; 2017 Aug; 173(8):2257-2260. PubMed ID: 28544239 [TBL] [Abstract][Full Text] [Related]
12. MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling. Zhou H; Spaeth JM; Kim NH; Xu X; Friez MJ; Schwartz CE; Boyer TG Proc Natl Acad Sci U S A; 2012 Nov; 109(48):19763-8. PubMed ID: 23091001 [TBL] [Abstract][Full Text] [Related]
13. Two male sibs with severe micrognathia and a missense variant in MED12. Prescott TE; Kulseth MA; Heimdal KR; Stadheim B; Hopp E; Gambin T; Coban Akdemir ZH; Jhangiani SN; Muzny DM; Gibbs RA; Lupski JR; Stray-Pedersen A Eur J Med Genet; 2016 Aug; 59(8):367-72. PubMed ID: 27286923 [TBL] [Abstract][Full Text] [Related]
14. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Rump P; Niessen RC; Verbruggen KT; Brouwer OF; de Raad M; Hordijk R Clin Genet; 2011 Feb; 79(2):183-8. PubMed ID: 20507344 [TBL] [Abstract][Full Text] [Related]
15. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? Hackmann K; Rump A; Haas SA; Lemke JR; Fryns JP; Tzschach A; Wieczorek D; Albrecht B; Kuechler A; Ripperger T; Kobelt A; Oexle K; Tinschert S; Schrock E; Kalscheuer VM; Di Donato N Am J Med Genet A; 2016 Jan; 170A(1):94-102. PubMed ID: 26358559 [TBL] [Abstract][Full Text] [Related]
16. Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome. Togi S; Ura H; Niida Y Am J Med Genet A; 2024 Sep; 194(9):e63628. PubMed ID: 38655688 [TBL] [Abstract][Full Text] [Related]
17. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Schwartz CE; Tarpey PS; Lubs HA; Verloes A; May MM; Risheg H; Friez MJ; Futreal PA; Edkins S; Teague J; Briault S; Skinner C; Bauer-Carlin A; Simensen RJ; Joseph SM; Jones JR; Gecz J; Stratton MR; Raymond FL; Stevenson RE J Med Genet; 2007 Jul; 44(7):472-7. PubMed ID: 17369503 [TBL] [Abstract][Full Text] [Related]
18. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? Caro-Llopis A; Rosello M; Orellana C; Oltra S; Monfort S; Mayo S; Martinez F Pediatr Res; 2016 Dec; 80(6):809-815. PubMed ID: 27500536 [TBL] [Abstract][Full Text] [Related]
19. MED12 mutations in human diseases. Wang H; Shen Q; Ye LH; Ye J Protein Cell; 2013 Sep; 4(9):643-6. PubMed ID: 23836153 [TBL] [Abstract][Full Text] [Related]
20. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Isidor B; Lefebvre T; Le Vaillant C; Caillaud G; Faivre L; Jossic F; Joubert M; Winer N; Le Caignec C; Borck G; Pelet A; Amiel J; Toutain A; Ronce N; Raynaud M; Verloes A; David A Am J Med Genet A; 2014 Jul; 164A(7):1821-5. PubMed ID: 24715367 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]