Literature DB >> 1518019

Genetic deafness.

W Reardon1.   

Abstract

Entities:  

Mesh:

Year:  1992        PMID: 1518019      PMCID: PMC1016054          DOI: 10.1136/jmg.29.8.521

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  42 in total

1.  THE ABNORMALITIES OF THE INNER EAR IN KREISLER MICE.

Authors:  M S DEOL
Journal:  J Embryol Exp Morphol       Date:  1964-09

2.  X-linked deafness, stapes gushers and a distinctive defect of the inner ear.

Authors:  P D Phelps; W Reardon; M Pembrey; S Bellman; L Luxom
Journal:  Neuroradiology       Date:  1991       Impact factor: 2.804

3.  Kramer v Wilde: an ideological debate.

Authors:  J Weir
Journal:  J Laryngol Otol       Date:  1990-05       Impact factor: 1.469

4.  The availability of statistics relating to deafness in the United Kingdom.

Authors:  L Shepherd
Journal:  Br J Audiol       Date:  1978-02

5.  Localization of Usher syndrome type II to chromosome 1q.

Authors:  W J Kimberling; M D Weston; C Möller; S L Davenport; Y Y Shugart; I A Priluck; A Martini; M Milani; R J Smith
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

6.  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

7.  Reverse genetics in the mouse and its application to the study of deafness.

Authors:  E M Rinchik; D K Johnson; F L Margolis; I J Jackson; L B Russell; D A Carpenter
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

8.  Recurrent meningitis in children due to inner ear abnormalities.

Authors:  R E Quiney; D B Mitchell; B Djazeri; J N Evans
Journal:  J Laryngol Otol       Date:  1989-05       Impact factor: 1.469

9.  Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.

Authors:  R A Lewis; B Otterud; D Stauffer; J M Lalouel; M Leppert
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

10.  Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear.

Authors:  K P Steel; C Barkway
Journal:  Development       Date:  1989-11       Impact factor: 6.868

View more
  14 in total

1.  Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Authors:  B Bonné-Tamir; A L DeStefano; C E Briggs; R Adair; B Franklyn; S Weiss; M Korostishevsky; M Frydman; C T Baldwin; L A Farrer
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.

Authors:  J F Lubianca Neto; L Lu; R D Eavey; M A Flores; R M Caldera; S Sangwatanaroj; J J Schott; B McDonough; J I Santos; C E Seidman; J G Seidman
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

3.  An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

Authors:  D A Scott; R Carmi; K Elbedour; S Yosefsberg; E M Stone; V C Sheffield
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

4.  Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.

Authors:  Karolina Banghova; Eva Al Taji; Ondrej Cinek; Dana Novotna; Radka Pourova; Jirina Zapletalova; Olga Hnikova; Jan Lebl
Journal:  Eur J Pediatr       Date:  2007-09-18       Impact factor: 3.183

5.  A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Authors:  L Tranebjaerg; C Schwartz; H Eriksen; S Andreasson; V Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

6.  Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Authors:  Kimia Kahrizi; Marzieh Mohseni; Carla Nishimura; Niloofar Bazazzadegan; Stephanie M Fischer; Atefeh Dehghani; Morteza Sayfati; Maryam Taghdiri; Payman Jamali; Richard J H Smith; Fereydoun Azizi; Hossein Najmabadi
Journal:  Eur J Pediatr       Date:  2008-09-24       Impact factor: 3.183

Review 7.  Chudley McCullough syndrome.

Authors:  Trimurti D Nadkarni; Ram K Menon; Abhidha H Shah; Atul Goel
Journal:  Childs Nerv Syst       Date:  2007-10-26       Impact factor: 1.475

8.  Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.

Authors:  Maria Carolina Braga Norte Esteves; Myriam de Lima Isaac; Anete Maria Francisco; Wilson Araújo da Silva Junior; Cristiane Ayres Ferreira; Ana Helena Banwart Dell'Aringa
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-04-04       Impact factor: 2.503

9.  Cognition in children with sensorineural hearing loss: etiologic considerations.

Authors:  Suzanne K Pierson; Susan E Caudle; Kevin R Krull; Jody Haymond; Ross Tonini; John S Oghalai
Journal:  Laryngoscope       Date:  2007-09       Impact factor: 3.325

10.  [Hereditary deafness in Turkey. Initial results].

Authors:  F Apaydin; M Pfister; M Iber; T Kandogan; S M Leal; U Brändle; O Cura; H P Zenner
Journal:  HNO       Date:  1998-09       Impact factor: 1.284

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.