Literature DB >> 13636700

Investigation of families with two or more mentally defective siblings; clinical observations.

S W WRIGHT, G TARJAN, L EYER.   

Abstract

Keywords:  MENTAL DEFICIENCY/heredity

Mesh：

Year:  1959        PMID： 13636700     DOI： 10.1001/archpedi.1959.02070010447010

Source DB:  PubMed          Journal:  AMA J Dis Child        ISSN： 0096-6916


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  11 in total

1.  Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity.

Authors:  L Basel-Vanagaite; A Alkelai; R Straussberg; N Magal; D Inbar; M Mahajna; M Shohat
Journal:  J Med Genet       Date:  2003-10       Impact factor: 6.318

2.  A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation.

Authors:  Joseph J Higgins; Joanna Pucilowska; Roni Q Lombardi; John P Rooney
Journal:  Neurology       Date:  2004-11-23       Impact factor: 9.910

3.  [Observations on the problem of sex-linked recessive mental retardation].

Authors:  G Neuhäuser; E Zerbin-Rüdin; R A Pfeiffer; H Klar
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1969

4.  Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.

Authors:  J M Cantú; J Sánchez-Corona; D García-Cruz; R Fragoso
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  Primary function analysis of human mental retardation related gene CRBN.

Authors:  Wang Xin; Ni Xiaohua; Chen Peilin; Chen Xin; Sun Yaqiong; Wu Qihan
Journal:  Mol Biol Rep       Date:  2007-03-23       Impact factor: 2.316

6.  TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.

Authors:  Giuseppe Marangi; Vincenzo Leuzzi; Filippo Manti; Serena Lattante; Daniela Orteschi; Vanna Pecile; Giovanni Neri; Marcella Zollino
Journal:  Eur J Hum Genet       Date:  2012-05-02       Impact factor: 4.246

7.  Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

Authors:  Hossein Najmabadi; Mohammad Mahdi Motazacker; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Wei Chen; Farkhondeh Behjati; Valeh Hadavi; Sahar Esmaeeli Nieh; Seyedeh Sedigheh Abedini; Reza Vazifehmand; Saghar Ghasemi Firouzabadi; Payman Jamali; Masoumeh Falah; Seyed Morteza Seifati; Annette Grüters; Steffen Lenzner; Lars R Jensen; Franz Rüschendorf; Andreas W Kuss; H Hilger Ropers
Journal:  Hum Genet       Date:  2006-11-21       Impact factor: 4.132

8.  Homozygosity mapping in outbred families with mental retardation.

Authors:  Janneke H M Schuurs-Hoeijmakers; Jayne Y Hehir-Kwa; Rolph Pfundt; Bregje W M van Bon; Nicole de Leeuw; Tjitske Kleefstra; Michèl A Willemsen; Ad Geurts van Kessel; Han G Brunner; Joris A Veltman; Hans van Bokhoven; Arjan P M de Brouwer; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

9.  The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.

Authors:  L Basel-Vanagaite; R Attia; M Yahav; R J Ferland; L Anteki; C A Walsh; T Olender; R Straussberg; N Magal; E Taub; V Drasinover; A Alkelai; D Bercovich; G Rechavi; A J Simon; M Shohat
Journal:  J Med Genet       Date:  2005-07-20       Impact factor: 6.318

10.  Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation.

Authors:  Joseph J Higgins; Jin Hao; Barry E Kosofsky; Anjali M Rajadhyaksha
Journal:  Neurogenetics       Date:  2008-04-15       Impact factor: 2.660
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