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Journal Abstract Search

159 related items for PubMed ID: 36271811

  • 21. 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
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  • 25. 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
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  • 27. X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing.
    McDermott H, Garikapati V, Baptista J, Gowda H, Naik S.
    Clin Dysmorphol; 2022 Apr 01; 31(2):101-105. PubMed ID: 35102032
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  • 30. 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 27; 109(48):19763-8. PubMed ID: 23091001
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  • 31. Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
    Graham JM, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE.
    Am J Med Genet A; 2008 Dec 01; 146A(23):3011-7. PubMed ID: 18973276
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  • 32. Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
    Graham JM, Clark RD, Moeschler JB, Rogers RC.
    Am J Med Genet C Semin Med Genet; 2010 Nov 15; 154C(4):477-85. PubMed ID: 20981778
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  • 36. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.
    Eur J Med Genet; 2017 Sep 15; 60(9):451-464. PubMed ID: 28645799
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  • 37. A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12.
    Murakami H, Enomoto Y, Tsurusaki Y, Sugio Y, Kurosawa K.
    Congenit Anom (Kyoto); 2020 May 15; 60(3):91-93. PubMed ID: 31322785
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  • 39. A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
    Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI.
    Cold Spring Harb Mol Case Stud; 2019 Dec 15; 5(6):. PubMed ID: 31444167
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