Literature DB >> 18324688

Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.

Hsiao-Yuan Tang1, Monica J Basehore, Gregory L Blakey, Sandra Darilek, John S Oghalai, Benjamin B Roa, Ping Fang, Raye Lynn Alford.   

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Year:  2008        PMID： 18324688      PMCID： PMC3597119          DOI： 10.1002/ajmg.a.32207

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  27 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.  Connexin 26 gene linked to a dominant deafness.

Authors:  F Denoyelle; G Lina-Granade; H Plauchu; R Bruzzone; H Chaïb; F Lévi-Acobas; D Weil; C Petit
Journal:  Nature       Date:  1998-05-28       Impact factor: 49.962

3.  Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

Authors:  F Denoyelle; D Weil; M A Maw; S A Wilcox; N J Lench; D R Allen-Powell; A H Osborn; H H Dahl; A Middleton; M J Houseman; C Dodé; S Marlin; A Boulila-ElGaïed; M Grati; H Ayadi; S BenArab; P Bitoun; G Lina-Granade; J Godet; M Mustapha; J Loiselet; E El-Zir; A Aubois; A Joannard; J Levilliers; E N Garabédian; R F Mueller; R J Gardner; C Petit
Journal:  Hum Mol Genet       Date:  1997-11       Impact factor: 6.150

4.  Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

Authors:  Gabriele Richard; Nkecha Brown; Akemi Ishida-Yamamoto; Alfons Krol
Journal:  J Invest Dermatol       Date:  2004-11       Impact factor: 8.551

5.  HID and KID syndromes are associated with the same connexin 26 mutation.

Authors:  M van Geel; M A M van Steensel; W Küster; H C Hennies; R Happle; P M Steijlen; A König
Journal:  Br J Dermatol       Date:  2002-06       Impact factor: 9.302

6.  The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects.

Authors:  T Fitzgerald; S Duva; H Ostrer; K Pass; C Oddoux; R Ruben; M Caggana
Journal:  Clin Genet       Date:  2004-04       Impact factor: 4.438

7.  Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele.

Authors:  E Gualandi; A Ravani; A Berto; S Burdo; P Trevisi; A Ferlini; A Martini; E Calzolari
Journal:  Acta Otolaryngol Suppl       Date:  2004-05

8.  A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Authors:  Girish V Putcha; Bassem A Bejjani; Stacey Bleoo; Jessica K Booker; John C Carey; Nancy Carson; Soma Das; Melissa A Dempsey; Julie M Gastier-Foster; John H Greinwald; Marcy L Hoffmann; Linda Jo Bone Jeng; Margaret A Kenna; Ishrag Khababa; Margaret Lilley; Rong Mao; Kasinathan Muralidharan; Iris M Otani; Heidi L Rehm; Fred Schaefer; William K Seltzer; Elaine B Spector; Michelle A Springer; Karen E Weck; Richard J Wenstrup; Stacey Withrow; Bai-Lin Wu; Maimoona A Zariwala; Iris Schrijver
Journal:  Genet Med       Date:  2007-07       Impact factor: 8.822

9.  Connexin-26 mutations in sporadic and inherited sensorineural deafness.

Authors:  X Estivill; P Fortina; S Surrey; R Rabionet; S Melchionda; L D'Agruma; E Mansfield; E Rappaport; N Govea; M Milà; L Zelante; P Gasparini
Journal:  Lancet       Date:  1998-02-07       Impact factor: 79.321

10.  Molecular epidemiology of DFNB1 deafness in France.

Authors:  Anne-Françoise Roux; Nathalie Pallares-Ruiz; Anne Vielle; Valérie Faugère; Carine Templin; Dorothée Leprevost; Françoise Artières; Geneviève Lina; Nicolas Molinari; Patricia Blanchet; Michel Mondain; Mireille Claustres
Journal:  BMC Med Genet       Date:  2004-03-06       Impact factor: 2.103
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  1 in total

1.  EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Authors:  Lies H Hoefsloot; Anne-Françoise Roux; Maria Bitner-Glindzicz
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246
  1 in total

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