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Literature DB >> 9106521

Nonsyndromic hearing impairment: unparalleled heterogeneity.

G Van Camp¹, P J Willems, R J Smith.

Abstract

Entities: Disease Gene

Mesh：

Year: 1997 PMID： 9106521 PMCID： PMC1712474

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

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50 in total

1. The gene for an inherited form of deafness maps to chromosome 5q31.

Authors: P E Leon; H Raventos; E Lynch; J Morrow; M C King
Journal: Proc Natl Acad Sci U S A Date: 1992-06-01 Impact factor: 11.205

2. A note on deaf mutism.

Authors: C S CHUNG; O W ROBINSON; N E MORTON
Journal: Ann Hum Genet Date: 1959-12 Impact factor: 1.670

3. Hereditary deaf mutism, with particular reference to Northern Ireland.

Authors: A C STEVENSON; E A CHEESEMAN
Journal: Ann Hum Genet Date: 1956-02 Impact factor: 1.670

Review 4. POU-domain transcription factors: pou-er-ful developmental regulators.

Authors: M G Rosenfeld
Journal: Genes Dev Date: 1991-06 Impact factor: 11.361

Review 5. Genetic epidemiology of hearing impairment.

Authors: N E Morton
Journal: Ann N Y Acad Sci Date: 1991 Impact factor: 5.691

6. X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

Authors: C Wallis; R Ballo; G Wallis; P Beighton; J Goldblatt
Journal: Genomics Date: 1988-11 Impact factor: 5.736

Review 7. Phylogenetic analysis of the myosin superfamily.

Authors: R E Cheney; M A Riley; M S Mooseker
Journal: Cell Motil Cytoskeleton Date: 1993

8. Sensorineural deafness inherited as a tissue specific mitochondrial disorder.

Authors: L Jaber; M Shohat; X Bu; N Fischel-Ghodsian; H Y Yang; S J Wang; J I Rotter
Journal: J Med Genet Date: 1992-02 Impact factor: 6.318

Review 9. A family of POU-domain and Pit-1 tissue-specific transcription factors in pituitary and neuroendocrine development.

Authors: H A Ingraham; V R Albert; R P Chen; E B Crenshaw 3d; H P Elsholtz; X He; M S Kapiloff; H J Mangalam; L W Swanson; M N Treacy
Journal: Annu Rev Physiol Date: 1990 Impact factor: 19.318

10. A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.

Authors: W Reardon; H R Middleton-Price; L Sandkuijl; P Phelps; S Bellman; L Luxon; M E Pembrey; S Malcolm
Journal: Genomics Date: 1991-12 Impact factor: 5.736

81 in total

1. DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.

Authors: C C Greene; P M McMillan; S E Barker; P Kurnool; M I Lomax; M Burmeister; M M Lesperance
Journal: Am J Hum Genet Date: 2000-12-11 Impact factor: 11.025

2. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Authors: A Eliot Shearer; Adam P DeLuca; Michael S Hildebrand; Kyle R Taylor; José Gurrola; Steve Scherer; Todd E Scheetz; Richard J H Smith
Journal: Proc Natl Acad Sci U S A Date: 2010-11-15 Impact factor: 11.205

3. A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

Authors: Juan R González; Wenyi Wang; Ester Ballana; Xavier Estivill
Journal: Hum Mutat Date: 2006-11 Impact factor: 4.878

4. Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy.

Authors: Kinuko Masaki; Jianwen Wendy Gu; Roozbeh Ghaffari; Gary Chan; Richard J H Smith; Dennis M Freeman; A J Aranyosi
Journal: Biophys J Date: 2009-06-03 Impact factor: 4.033

5. Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Authors: Guney Bademci; Oscar Diaz-Horta; Shengru Guo; Duygu Duman; Derek Van Booven; Joseph Foster; Filiz Basak Cengiz; Susan Blanton; Mustafa Tekin
Journal: Genet Test Mol Biomarkers Date: 2014-07-25