Literature DB >> 6682021

X-linked mental retardation, growth retardation, deafness and microgenitalism. A second familial report.

J F Mattei, P Collignon, S Ayme, F Giraud.   

Abstract

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Year:  1983        PMID： 6682021     DOI： 10.1111/j.1399-0004.1983.tb00439.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

Review 1.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

2.  X-linked mental retardation: in pursuit of a gene map.

Authors:  C E Schwartz
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

3.  The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Authors:  P Saugier-Veber; V Abadie; A Moncla; M Mathieu; C Piussan; C Turleau; J F Mattei; A Munnich; S Lyonnet
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

Review 4.  Fragile X and X-linked intellectual disability: four decades of discovery.

Authors:  Herbert A Lubs; Roger E Stevenson; Charles E Schwartz
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

5.  A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

Authors:  A K Lalwani; J R Brister; J Fex; K M Grundfast; A T Pikus; B Ploplis; T San Agustin; H Skarka; E R Wilcox
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

6.  X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.

Authors:  Fatemeh Shakarami; Mehdi Jahani; Zahra Nouri; Mohammad Amin Tabatabaiefar
Journal:  Mol Genet Genomic Med       Date:  2022-08-13       Impact factor: 2.473

7.  HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.

Authors:  Michael J Friez; Susan Sklower Brooks; Roger E Stevenson; Michael Field; Monica J Basehore; Lesley C Adès; Courtney Sebold; Stephen McGee; Samantha Saxon; Cindy Skinner; Maria E Craig; Lucy Murray; Richard J Simensen; Ying Yzu Yap; Marie A Shaw; Alison Gardner; Mark Corbett; Raman Kumar; Matthias Bosshard; Barbara van Loon; Patrick S Tarpey; Fatima Abidi; Jozef Gecz; Charles E Schwartz
Journal:  BMJ Open       Date:  2016-04-29       Impact factor: 2.692
  7 in total

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