Literature DB >> 3322000

X-linked mental retardation with marfanoid habitus.

J P Fryns1, M Buttiens.   

Abstract

Here we report on two pairs of mildly to moderately mentally retarded brothers with marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate, and hypernasal voice, as previously reported by Lujan et al (Am J Med Genet 17:311-322, 1984) in four mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X-linked mental retardation with marfanoid habitus.

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Year:  1987        PMID: 3322000     DOI: 10.1002/ajmg.1320280202

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  12 in total

Review 1.  X linked mental retardation.

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2.  X linked mental retardation: a family with a separate syndrome?

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3.  Comparative analysis of a novel disease phenotype network based on clinical manifestations.

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Review 4.  Mediator kinase module and human tumorigenesis.

Authors:  Alison D Clark; Marieke Oldenbroek; Thomas G Boyer
Journal:  Crit Rev Biochem Mol Biol       Date:  2015-07-16       Impact factor: 8.250

Review 5.  Mediator and human disease.

Authors:  Jason M Spaeth; Nam Hee Kim; Thomas G Boyer
Journal:  Semin Cell Dev Biol       Date:  2011-08-04       Impact factor: 7.727

6.  Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

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Journal:  Eur J Hum Genet       Date:  2009-03-18       Impact factor: 4.246

7.  Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Authors:  Patrick S Tarpey; F Lucy Raymond; Lam S Nguyen; Jayson Rodriguez; Anna Hackett; Lucianne Vandeleur; Raffaella Smith; Cheryl Shoubridge; Sarah Edkins; Claire Stevens; Sarah O'Meara; Calli Tofts; Syd Barthorpe; Gemma Buck; Jennifer Cole; Kelly Halliday; Katy Hills; David Jones; Tatiana Mironenko; Janet Perry; Jennifer Varian; Sofie West; Sara Widaa; John Teague; Ed Dicks; Adam Butler; Andrew Menzies; David Richardson; Andrew Jenkinson; Rebecca Shepherd; Keiran Raine; Jenny Moon; Yin Luo; Josep Parnau; Shambhu S Bhat; Alison Gardner; Mark Corbett; Doug Brooks; Paul Thomas; Emma Parkinson-Lawrence; Mary E Porteous; John P Warner; Tracy Sanderson; Pauline Pearson; Richard J Simensen; Cindy Skinner; George Hoganson; Duane Superneau; Richard Wooster; Martin Bobrow; Gillian Turner; Roger E Stevenson; Charles E Schwartz; P Andrew Futreal; Anand K Srivastava; Michael R Stratton; Jozef Gécz
Journal:  Nat Genet       Date:  2007-08-19       Impact factor: 38.330

8.  The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Authors:  Charles E Schwartz; Patrick S Tarpey; Herbert A Lubs; Alain Verloes; Melanie M May; Hiba Risheg; Michael J Friez; P Andrew Futreal; Sarah Edkins; Jon Teague; Sylvain Briault; Cindy Skinner; Astrid Bauer-Carlin; Richard J Simensen; Sumy M Joseph; Julie R Jones; Josef Gecz; Michael R Stratton; F Lucy Raymond; Roger E Stevenson
Journal:  J Med Genet       Date:  2007-03-16       Impact factor: 6.318

Review 9.  Quality and quantity control of gene expression by nonsense-mediated mRNA decay.

Authors:  Tatsuaki Kurosaki; Maximilian W Popp; Lynne E Maquat
Journal:  Nat Rev Mol Cell Biol       Date:  2019-07       Impact factor: 94.444

Review 10.  Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Orphanet J Rare Dis       Date:  2006-07-10       Impact factor: 4.123

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