Search Results

Phenotype and genotype in females with POU3F4 mutations

Authors: Marlin, S; Moizard, MP; David, A; Chaissang, N; Raynaud, M; Jonard, L; Feldmann, D; Loundon, N; Denoyelle, F; Toutain, A

Source: Clinical Genetics, Volume 76, Number 6, December 2009 , pp. 558-563(6)

Publisher: Blackwell Publishing

Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008

Authors: Berto, Anna; Pellati, Daniela; Castiglione, Alessandro; Busi, Micol; Trevisi, Patrizia; Gualandi, Francesca; Ferlini, Alessandra; Martini, Alessandro

Source: Audiological Medicine, Volume 7, Number 2, June 2009 , pp. 93-105(13)

Publisher: Informa Healthcare

The large Chinese family with Y-linked hearing loss revisited: Clinical investigation

Authors: Wang, Qiu-Ju; Rao, Shao-Qi; Zhao, Ya-Li; Liu, Qing-Jie; Zong, Liang; Han, Ming-Kun; Han, Dong-Yi; Yang, Wei-Yan

Source: Acta Oto-Laryngologica, Volume 129, Number 6, June 2009 , pp. 638-643(6)

Publisher: Informa Healthcare

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

Authors: Sırmacı; Öztürkmen-Akay; Erbek; İncesulu; Duman; Taşır-Yılmaz; Özdağ; Tekin

Source: Clinical Genetics, Volume 75, Number 6, June 2009 , pp. 562-567(6)

Publisher: Blackwell Publishing

Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone

Authors: Bajaj, Y.; Sirimanna, T.; Albert, D.M.; Qadir, P.; Jenkins, L.; Cortina-Borja, M.; Bitner-Glindzicz, M.

Source: Clinical Otolaryngology, Volume 34, Number 2, April 2009 , pp. 113-119(7)

Publisher: Blackwell Publishing

Correlation between GJB2 mutations and audiological deficits: personal experience

Authors: Picciotti, Pasqualina; Pietrobono, Roberta; Neri, Giovanni; Paludetti, Gaetano; Fetoni, Anna; Cianfrone, Francesca; Pomponi, Maria

Source: European Archives of Oto-Rhino-Laryngology, Volume 266, Number 4, April 2009 , pp. 489-494(6)

Publisher: Springer

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

Authors: Choi; Ahmed; Riazuddin; Bhinder; Shahzad; Husnain; Griffith; Friedman

Source: Clinical Genetics, Volume 75, Number 3, March 2009 , pp. 237-243(7)

Publisher: Blackwell Publishing

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

Authors: Cama, Elona; Melchionda, Salvatore; Palladino, Teresa; Carella, Massimo; Santarelli, Rosamaria; Genovese, Elisabetta; Benettazzo, Filippo; Zelante, Leopoldo; Arslan, Edoardo

Source: International Journal of Audiology, Volume 48, Number 1, January 2009 , pp. 12-17(6)

Publisher: Informa Healthcare

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

Authors: Ahmed; Riazuddin; Khan; Friedman

Source: Clinical Genetics, Volume 75, Number 1, January 2009 , pp. 86-91(6)

Publisher: Blackwell Publishing

Genetics of aminoglycocide-induced and prelingual non-syndromic mitochondrial hearing impairment: A review

Authors: Hema Bindu, L.; Reddy, P. P.

Source: International Journal of Audiology, Volume 47, Number 11, November 2008 , pp. 702-707(6)

Publisher: Informa Healthcare

Audiological and genetic studies on large families with non-syndromic deafness

Authors: Liu, Xue; Ouyang, Xiao; Du, Li; Ke, Xiao; Pu, Xing; Linag, Chuan; Liu, Yu He; Liu, Shi Xi; Guan, Min-Xin; Angeli, Simon; Yan, Denise

Source: Audiological Medicine, Volume 6, Number 3, 2008 , pp. 208-214(7)

Publisher: Informa Healthcare

Cellular characterization of Connexin26 and Connnexin30 expression in the cochlear lateral wall

Authors: Liu, Ying-Peng; Zhao, Hong-Bo

Source: Cell and Tissue Research, Volume 333, Number 3, September 2008 , pp. 395-403(9)

Publisher: Springer

Large endolymphatic duct and sac syndrome (LEDS) in monozygotic mirror twins

Authors: Boudewyns, An; Declau, Frank; Van Den Ende, Jenneke; Snoeckx, Anremiek; Parizel, Paul; Van De Heyning, Paul

Source: Audiological Medicine, Volume 6, Number 2, 2008 , pp. 161-165(5)

Publisher: Informa Healthcare

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

Authors: Hilgert; Alasti; Dieltjens; Pawlik; Wollnik; Uyguner; Delmaghani; Weil; Petit; Danis; Yang; Pandelia; Petersen; Goossens; Favero; Sanati; Smith; Van Camp,

Source: Clinical Genetics, Volume 74, Number 3, September 2008 , pp. 223-232(10)

Publisher: Blackwell Publishing

Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population

Authors: Bajaj, Y.; Sirimanna, T.; Albert, D.M.; Qadir, P.; Jenkins, L.; Bitner-Glindzicz, M.

Source: Clinical Otolaryngology, Volume 33, Number 4, August 2008 , pp. 313-318(6)

Publisher: Blackwell Publishing

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

Authors: Tekin; Öztürkmen Akay,; Fitoz; Birnbaum; Cengiz; Sennaroğlu; İncesulu; Yüksel Konuk,; Hasanefendioğlu Bayrak,; Şentürk; Cebeci; Ütine; Tunçbilek; Nance; Duman

Source: Clinical Genetics, Volume 73, Number 6, June 2008 , pp. 554-565(12)

Publisher: Blackwell Publishing

Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation

Authors: Maasz, Anita; Komlosi, Katalin; Hadzsiev, Kinga; Szabo, Zsolt; Willems, Patrick J.; Gerlinger, Imre; Kosztolanyi, Gyorgy; Mehes, Karoly; Melegh, Bela

Source: Current Medicinal Chemistry, Volume 15, Number 13, June 2008 , pp. 1257-1262(6)

Publisher: Bentham Science Publishers

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1

Authors: Peters; Fridell; Boger; San Agustin,; Madeo; Griffith; Friedman; Morell

Source: Clinical Genetics, Volume 73, Number 4, April 2008 , pp. 367-372(6)

Publisher: Blackwell Publishing

Inherited hearing loss: molecular genetics and diagnostic testing

Authors: Vele, Oana; Schrijver, Iris

Source: Expert Opinion on Medical Diagnostics, Volume 2, Number 3, March 2008 , pp. 231-248(18)

Publisher: Informa Healthcare

Sex-linked deafness

Authors: Petersen; Wang; Willems

Source: Clinical Genetics, Volume 73, Number 1, January 2008 , pp. 14-23(10)

Publisher: Blackwell Publishing