Literature DB >> 1570841

Phenotypic heterogeneity and the single gene.

G K Suthers, K E Davies.   

Abstract

Mesh：

Year:  1992        PMID： 1570841      PMCID： PMC1682592     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  36 in total

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Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

2.  Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Authors:  L J Ptácek; A L George; R C Griggs; R Tawil; R G Kallen; R L Barchi; M Robertson; M F Leppert
Journal:  Cell       Date:  1991-11-29       Impact factor: 41.582

3.  Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

Authors:  M C Koch; K Ricker; M Otto; T Grimm; K Bender; B Zoll; P S Harper; F Lehmann-Horn; R Rüdel; E P Hoffman
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

4.  Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.

Authors:  M C Koch; K Ricker; M Otto; T Grimm; E P Hoffman; R Rüdel; K Bender; B Zoll; P S Harper; F Lehmann-Horn
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

5.  Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

Authors:  Y H Fu; D P Kuhl; A Pizzuti; M Pieretti; J S Sutcliffe; S Richards; A J Verkerk; J J Holden; R G Fenwick; S T Warren
Journal:  Cell       Date:  1991-12-20       Impact factor: 41.582

6.  Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

Authors:  L J Ptacek; F Tyler; J S Trimmer; W S Agnew; M Leppert
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

7.  A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.

Authors:  C V Rojas; J Z Wang; L S Schwartz; E P Hoffman; B R Powell; R H Brown
Journal:  Nature       Date:  1991-12-05       Impact factor: 49.962

8.  Prenatal prediction of spinal muscular atrophy.

Authors:  R J Daniels; G K Suthers; K E Morrison; N H Thomas; M J Francis; C G Mathew; S Loughlin; A Heiberg; D Wood; V Dubowitz
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

9.  Developmental and tissue-specific regulation of mouse dystrophin: the embryonic isoform in muscular dystrophy.

Authors:  Y Geng; P Sicinski; D Gorecki; P J Barnard
Journal:  Neuromuscul Disord       Date:  1991       Impact factor: 4.296

10.  The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle.

Authors:  T J Byers; L M Kunkel; S C Watkins
Journal:  J Cell Biol       Date:  1991-10       Impact factor: 10.539
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  6 in total

Review 1.  The genetic contribution to the phenotype.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

2.  Low segregation ratios in autosomal recessive disorders.

Authors:  J C Oosterwijk
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

3.  Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Authors:  C A Wise; C A Garcia; S N Davis; Z Heju; L Pentao; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

4.  X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

Authors:  D Bonneau; J M Rozet; C Bulteau; M Berthier; R Mettey; R Gil; A Munnich; M Le Merrer
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

5.  Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up.

Authors:  Isabelle Desguerre; Christo Christov; Michele Mayer; Reinhard Zeller; Henri-Marc Becane; Sylvie Bastuji-Garin; France Leturcq; Catherine Chiron; Jamel Chelly; Romain K Gherardi
Journal:  PLoS One       Date:  2009-02-05       Impact factor: 3.240

6.  Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.

Authors:  A T Moore; F Fitzke; M Jay; G B Arden; C F Inglehearn; T J Keen; S S Bhattacharya; A C Bird
Journal:  Br J Ophthalmol       Date:  1993-08       Impact factor: 4.638
  6 in total

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