Literature DB >> 10735842

Inherited deafness in childhood--the genetic revolution unmasks the clinical challenge.

W Reardon1, R F Mueller.   

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Year:  2000        PMID： 10735842      PMCID： PMC1718275          DOI： 10.1136/adc.82.4.319

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  28 in total

1.  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Authors:  D P Kelsell; J Dunlop; H P Stevens; N J Lench; J N Liang; G Parry; R F Mueller; I M Leigh
Journal:  Nature       Date:  1997-05-01       Impact factor: 49.962

2.  The genetics of deafness.

Authors:  W Reardon; M Pembrey
Journal:  Arch Dis Child       Date:  1990-11       Impact factor: 3.791

3.  Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.

Authors:  X Z Liu; J Walsh; P Mburu; J Kendrick-Jones; M J Cope; K P Steel; S D Brown
Journal:  Nat Genet       Date:  1997-06       Impact factor: 38.330

4.  The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

Authors:  D Weil; P Küssel; S Blanchard; G Lévy; F Levi-Acobas; M Drira; H Ayadi; C Petit
Journal:  Nat Genet       Date:  1997-06       Impact factor: 38.330

5.  Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Authors:  Y Fuse; K Doi; T Hasegawa; A Sugii; H Hibino; T Kubo
Journal:  Neuroreport       Date:  1999-06-23       Impact factor: 1.837

6.  Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

Authors:  K Kajiwara; E L Berson; T P Dryja
Journal:  Science       Date:  1994-06-10       Impact factor: 47.728

7.  Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Authors:  D Weil; S Blanchard; J Kaplan; P Guilford; F Gibson; J Walsh; P Mburu; A Varela; J Levilliers; M D Weston
Journal:  Nature       Date:  1995-03-02       Impact factor: 49.962

8.  A type VII myosin encoded by the mouse deafness gene shaker-1.

Authors:  F Gibson; J Walsh; P Mburu; A Varela; K A Brown; M Antonio; K W Beisel; K P Steel; S D Brown
Journal:  Nature       Date:  1995-03-02       Impact factor: 49.962

9.  Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.

Authors:  Y Omori; M Mesnil; H Yamasaki
Journal:  Mol Biol Cell       Date:  1996-06       Impact factor: 4.138

10.  Genetic epidemiological studies of early-onset deafness in the U.S. school-age population.

Authors:  M L Marazita; L M Ploughman; B Rawlings; E Remington; K S Arnos; W E Nance
Journal:  Am J Med Genet       Date:  1993-06-15
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