Literature DB >> 7328634

Fragile X-linked mental retardation: the Martin-Bell syndrome.

B W Richards, P E Sylvester, C Brooker.   

Abstract

Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome. Some also display the typical facial appearance associated with this anomaly, and some have macro-orchidism. It is proposed that the condition should be designated "The Martin-Bell syndrome."

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Mesh：

Year:  1981        PMID： 7328634     DOI： 10.1111/j.1365-2788.1981.tb00115.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN： 0022-264X


  22 in total

Review 1.  X linked mental retardation.

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

2.  Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

Authors:  C E Schwartz; J Ulmer; A Brown; I Pancoast; H O Goodman; R E Stevenson
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

Review 3.  Anticipation in hereditary disease: the history of a biomedical concept.

Authors:  Judith E Friedman
Journal:  Hum Genet       Date:  2011-06-12       Impact factor: 4.132

4.  Renpenning syndrome maps to Xp11.

Authors:  R E Stevenson; J F Arena; E Ouzts; A Gibson; M H Shokeir; C Vnencak-Jones; H A Lubs; M May; C E Schwartz
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

Review 5.  The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.

Authors:  Jim Grigsby
Journal:  Clin Neuropsychol       Date:  2016-06-29       Impact factor: 3.535

6.  Clinico-neurological investigations in the fra(X) form of mental retardation.

Authors:  P Vieregge; U Froster-Iskenius
Journal:  J Neurol       Date:  1989-02       Impact factor: 4.849

7.  A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.

Authors:  S Bundey; T P Webb; A Thake; J Todd
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

Review 8.  The fragile X syndrome: the patients and their chromosomes.

Authors:  M A De Arce; A Kearns
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

9.  Frequency of the fragile X syndrome in institutionalized mentally retarded females in Japan.

Authors:  T Arinami; I Kondo; S Nakajima; H Hamaguchi
Journal:  Hum Genet       Date:  1987-08       Impact factor: 4.132

10.  Fragile X chromosome: clinical and cytogenetic studies on cases from seven families.

Authors:  A McDermott; R Walters; R T Howell; A Gardner
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318
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