Literature DB >> 8616352

Recent advances. Medical genetics.

J R Yate1.   

Abstract

Mesh：

Year:  1996        PMID： 8616352      PMCID： PMC2350839          DOI： 10.1136/bmj.312.7037.1021

Source DB:  PubMed          Journal:  BMJ        ISSN： 0959-8138


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  62 in total

1.  FGFR2 mutations in Pfeiffer syndrome.

Authors:  E Lajeunie; H W Ma; J Bonaventure; A Munnich; M Le Merrer; D Renier
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

2.  A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

Authors:  M Muenke; U Schell; A Hehr; N H Robin; H W Losken; A Schinzel; L J Pulleyn; P Rutland; W Reardon; S Malcolm
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

3.  Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

Authors:  R J Gibbons; D J Picketts; L Villard; D R Higgs
Journal:  Cell       Date:  1995-03-24       Impact factor: 41.582

4.  Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Authors:  A O Wilkie; S F Slaney; M Oldridge; M D Poole; G J Ashworth; A D Hockley; R D Hayward; D J David; L J Pulleyn; P Rutland
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

5.  Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Authors:  P Rutland; L J Pulleyn; W Reardon; M Baraitser; R Hayward; B Jones; S Malcolm; R M Winter; M Oldridge; S F Slaney
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

6.  Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Authors:  G A Bellus; T W Hefferon; R I Ortiz de Luna; J T Hecht; W A Horton; M Machado; I Kaitila; I McIntosh; C A Francomano
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

7.  A genome-wide search for human type 1 diabetes susceptibility genes.

Authors:  J L Davies; Y Kawaguchi; S T Bennett; J B Copeman; H J Cordell; L E Pritchard; P W Reed; S C Gough; S C Jenkins; S M Palmer
Journal:  Nature       Date:  1994-09-08       Impact factor: 49.962

8.  SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.

Authors:  Q Wang; J Shen; I Splawski; D Atkinson; Z Li; J L Robinson; A J Moss; J A Towbin; M T Keating
Journal:  Cell       Date:  1995-03-10       Impact factor: 41.582

9.  A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

Authors:  M E Curran; I Splawski; K W Timothy; G M Vincent; E D Green; M T Keating
Journal:  Cell       Date:  1995-03-10       Impact factor: 41.582

10.  Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33.

Authors:  J B Copeman; F Cucca; C M Hearne; R J Cornall; P W Reed; K S Rønningen; D E Undlien; L Nisticò; R Buzzetti; R Tosi
Journal:  Nat Genet       Date:  1995-01       Impact factor: 38.330
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