Works matching DE "GENETICS of deafness"

Results: 541

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Published in:

Nature, 1997, v. 387, n. 6628, p. 80, doi. 10.1038/387080a0

By:

Kelsell, D.P.;
Dunlop, J.

Publication type:

Article

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

Published in:

Nature, 1995, v. 374, n. 6517, p. 62, doi. 10.1038/374062a0

By:

Gibson, F.;
Walsh, J.

Publication type:

Article

Impaired body-centred sensorimotor transformations in congenitally deaf people.

Published in:

Brain Communications, 2022, v. 4, n. 3, p. 1, doi. 10.1093/braincomms/fcac148

By:

Hui Li;
Li Song;
Pengfei Wang;
Weiss, Peter H.;
Fink, Gereon R.;
Xiaolin Zhou;
Qi Chen

Publication type:

Article

Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.

Published in:

Inquiry (00469580), 2022, p. 1, doi. 10.1177/00469580211055571

By:

Bian, Panpan;
Xu, Baicheng;
Zhao, Xiaoyun;
Zhu, YiMing;
Chen, Chi;
Chen, XingJian;
Liu, Xiaowen;
Wang, Yanli;
Guo, Yufen

Publication type:

Article

Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.

Published in:

Inquiry (00469580), 2022, v. 59, p. 1, doi. 10.1177/00469580211055571

By:

Panpan Bian;
Baicheng Xu;
Xiaoyun Zhao;
YiMing Zhu;
Chi Chen;
XingJian Chen;
Xiaowen Liu;
Yanli Wang;
Yufen Guo

Publication type:

Article

Lullabies for Sophia.

Published in:

2004

By:

Rosner, Jennifer

Publication type:

Essay

Genetic hearing loss: the journey of discovery to destination - how close are we to therapy?

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 583, doi. 10.1002/mgg3.260

By:

Pandya, Arti

Publication type:

Article

AUDITORY IMPAIRMENTS.

Published in:: Exceptional Children, 1956, v. 23, n. 3, p. 135
Publication type:: Article

Eugenics Quarterly.

Published in:

Exceptional Children, 1955, v. 21, n. 4, p. 154

By:

Dolphin, Jane E.

Publication type:

Article

PERIODICAL ARTICLES AND PAMPHLETS.

Published in:

Exceptional Children, 1953, v. 20, n. 3, p. 141, doi. 10.1177/001440295302000310

By:

Dolphin, Jane E.

Publication type:

Article

Fine structure DPOAEs in normal hearing consanguineous parents of congenitally hearing impaired siblings (probable carriers).

Published in:

Indian Journal of Otology, 2013, v. 19, n. 3, p. 104, doi. 10.4103/0971-7749.117469

By:

Sasidharan, Megha;
Bhat, Rashmi

Publication type:

Article

ETIOLOGIA GENÉTICA DA DEFICIÊNCIA AUDITIVA E TESTES DIAGNÓSTICOS: UMA CURTA REVISÃO.

Published in:

UNINGÁ Review, 2013, v. 13, n. 1, p. 64

By:

DE LIMA, LURIAN TOMADON;
DELLA-ROSA, VALTER AUGUSTO

Publication type:

Article

Congenital cytomegalovirus infection is a significant cause of moderate to profound sensorineural hearing loss in Queensland children.

Published in:

2015

By:

Toumpas, Christopher J;
Clark, Julia;
Harris, Alison;
Beswick, Rachael;
Nourse, Clare B

Publication type:

journal article

Congenital deafness with pigmentary disturbance of the irides.

Published in:

2014

By:

Ghoshal, Loknath;
Barua, Jayanta Kumar;
Biswas, Asish

Publication type:

Other

NICU-only versus universal screening for newborn hearing loss: Population audit.

Published in:

Journal of Paediatrics & Child Health, 2013, v. 49, n. 1, p. E74, doi. 10.1111/j.1440-1754.2012.02472.x

By:

Barker, Melinda J;
Hughes, Elizabeth K;
Wake, Melissa

Publication type:

Article

AORTIC COARCTATION AND TWIN PREGNANCY.

Published in:

Journal of Paediatrics & Child Health, 2011, v. 47, n. 5, p. 316, doi. 10.1111/j.1440-1754.2011.02092.x

By:

Beevers, David G.;
Lip, Gregory Y. H.

Publication type:

Article

GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf.

Published in:

Annals of Human Genetics, 2010, v. 74, n. 2, p. 155, doi. 10.1111/j.1469-1809.2010.00564.x

By:

Tekin, Mustafa;
Xia-Juan Xia;
Erdenetungalag, Radnaabazar;
Cengiz, Filiz Basak;
White, Thomas W.;
Radnaabazar, Janchiv;
Dangaasuren, Begzsuren;
Tastan, Hakki;
Nance, Walter E.;
Pandya, Arti

Publication type:

Article

Double Heterozygosity with Mutations Involving both theGJB2andGJB6Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population.

Published in:

Annals of Human Genetics, 2005, v. 69, n. 1, p. 9, doi. 10.1046/j.1529-8817.2003.00120.x

By:

Seeman, P.;
Bendov, O.;
Raškov, D.;
Malákov, M.;
Groh, D.;
Kabelka, Z.

Publication type:

Article

Congenital X-linked Stapes Gusher Syndrome.

Published in:

2012

By:

El Beltagi, A. H.;
Elsherbiny, M. M.;
El-Nil, H.

Publication type:

Letter

Familial Phenotype of Waardenburg Syndrome in One Family: A Case Series.

Published in:

Medico-Legal Update, 2021, v. 21, n. 1, p. 1569, doi. 10.37506/mlu.v21i1.2545

By:

Savitri, Eka;
Irawan, Indra;
Muhiddin, Habibah S.;
Fadly

Publication type:

Article

Chemosensory Function in Congenitally Blind or Deaf Teenagers.

Published in:

Chemosensory Perception, 2016, v. 9, n. 1, p. 8, doi. 10.1007/s12078-015-9199-2

By:

Guducu, Cagdas;
Oniz, Adile;
Ikiz, Ahmet;
Ozgoren, Murat

Publication type:

Article

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Published in:

2017

By:

Yock-Ping Chow;
Abdul Murad, Nor Azian;
Rani, Zamzureena Mohd;
Jia-Shiun Khoo;
Pei-Sin Chong;
Loo-Ling Wu;
Jamal, Rahman;
Chow, Yock-Ping;
Mohd Rani, Zamzureena;
Khoo, Jia-Shiun;
Chong, Pei-Sin;
Wu, Loo-Ling

Publication type:

journal article

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

Published in:

2017

By:

Le Quesne Stabej, Polona;
James, Chela;
Ocaka, Louise;
Tekman, Mehmet;
Grunewald, Stephanie;
Clement, Emma;
Stanescu, Horia C.;
Kleta, Robert;
Morrogh, Deborah;
Calder, Alistair;
Williams, Hywel J.;
Bitner-Glindzicz, Maria

Publication type:

journal article

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0316-8

By:

Dahmani, Malika;
Ammar-Khodja, Fatima;
Bonnet, Crystel;
Lefèvre, Gaelle M.;
Hardelin, Jean-Pierre;
Ibrahim, Hassina;
Mallek, Zahia;
Petit, Christine

Publication type:

Article

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0238-5

By:

Thoenes, Michaela;
Zimmermann, Ulrike;
Ebermann, Inga;
Ptok, Martin;
Lewis, Morag A.;
Thiele, Holger;
Morlot, Susanne;
Hess, Markus M.;
Gal, Andreas;
Eisenberger, Tobias;
Bergmann, Carsten;
Nürnberg, Gudrun;
Nürnberg, Peter;
Steel, Karen P.;
Knipper, Marlies;
Bolz, Hanno Jörn

Publication type:

Article

Endocochlear potential depends on Cl<sup>−</sup> channels: mechanism underlying deafness in Bartter syndrome IV.

Published in:

EMBO Journal, 2008, v. 27, n. 21, p. 2907, doi. 10.1038/emboj.2008.203

By:

Rickheit, Gesa;
Maier, Hannes;
Strenzke, Nicola;
Andreescu, Corina E;
De Zeeuw, Chris I;
Muenscher, Adrian;
Zdebik, Anselm A;
Jentsch, Thomas J

Publication type:

Article

Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.

Published in:

2016

By:

Melzer, Jonathan M.;
Eliason, Michael;
Conley, George S.

Publication type:

journal article

Is an endoscopic approach superior to external dacryocystorhinostomy for nasolacrimal obstruction?

Published in:

Laryngoscope, 2015, v. 125, n. 1, p. 2, doi. 10.1002/lary.24734

By:

Lieberman, Seth M.;
Casiano, Roy R.

Publication type:

Article

Genetic characteristics in children with cochlear implants and the corresponding auditory performance.

Published in:

Laryngoscope, 2011, v. 121, n. 6, p. 1287, doi. 10.1002/lary.21751

By:

Chen-Chi Wu;
Tien-Chen Liu;
Shih-Hao Wang;
Chuan-Jen Hsu;
Che-Ming Wu

Publication type:

Article

Causes of permanent childhood hearing impairment.

Published in:

Laryngoscope, 2011, v. 121, n. 2, p. 409, doi. 10.1002/lary.21377

By:

Korver, Anna M.H.;
Admiraal, Ronald J.C.;
Kant, Sarina G.;
Dekker, Friedo W.;
Wever, Capi C.;
Kunst, Henricus P.M.;
Frijns, Johan H.M.;
Oudesluys -Murphy, Anne Marie

Publication type:

Article

Association of the C677T polymorphism in the methylenetetrahydrofolate reductase gene with sudden sensorineural hearing loss.

Published in:

Laryngoscope, 2010, v. 120, n. 4, p. 791, doi. 10.1002/lary.20809

By:

Uchida, Yasue;
Sugiura, Saiko;
Ando, Fujiko;
Shimokata, Hiroshi;
Nakashima, Tsutomu

Publication type:

Article

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

Published in:

Laryngoscope, 2010, v. 120, n. 2, p. 384, doi. 10.1002/lary.20722

By:

King, Kelly A.;
Choi, Byung Yoon;
Zalewski, Christopher;
Madeo, Anne C.;
Manichaikul, Ani;
Pryor, Shannon P.;
Ferruggiaro, Anne;
Eisenman, David;
Kim, H. Jeffrey;
Niparko, John;
Thomsen, James;
Butman, John A.;
Griffith, Andrew J.;
Brewer, Carmen C.

Publication type:

Article

Congenital Stapes Ankylosis: Study of 28 Cases and Surgical Results.

Published in:

Laryngoscope, 2006, v. 116, n. 7, p. 1153

By:

Sebastien Albert

Publication type:

Article

A pulsatile tracheal compression.

Published in:

2008

By:

Saxena, S.;
Gothi, D.;
Joshi, J. M.

Publication type:

Case Study

The Connection Between Connexins and Hearing Loss.

Published in:

Audiology Today, 2010, v. 22, n. 6, p. 72

By:

Francis, Shimon P.;
Cunningham, Lisa L.

Publication type:

Article

Affordable Genetic Testing.

Published in:

2010

By:

Hamill, Teri

Publication type:

Interview

Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.

Published in:

Journal of Translational Medicine, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1479-5876-11-163

By:

Qinjun Wei;
Shuai Wang;
Jun Yao;
Yajie Lu;
Zhibin Chen;
Guangqian Xing;
Xin Cao

Publication type:

Article

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

Published in:

Cell Biochemistry & Biophysics, 2015, v. 73, n. 1, p. 41, doi. 10.1007/s12013-015-0562-3

By:

Fang, Yuan;
Gu, Maosheng;
Wang, Chuanxia;
Suo, Feng;
Wang, Guangming;
Xia, Yujuan

Publication type:

Article

A case of maternally inherited diabetes and deafness.

Published in:

Practitioner, 2022, v. 266, n. 1855, p. 23

By:

Martin, Daniel;
Poole, Ruth

Publication type:

Article

Only got five minutes? Then read these key points first.

Published in:: Practitioner, 2022, v. 266, n. 1855, p. 2
Publication type:: Article

X-Linked Deafness Type 2 and Poor Response to Cochlear Implantation: A Case Report.

Published in:

Perspectives of the ASHA Special Interest Groups, 2025, v. 10, n. 2, p. 524, doi. 10.1044/2024_PERSP-24-00123

By:

Botero-Meneses, Juan Sebastián;
Olaya-Galindo, Maria Daniela;
Carvajalino-Monje, Irma;
Talero-Gutiérrez, Claudia

Publication type:

Article

The Role of Genetic Factors for Hearing Deterioration Across 20 Years: A Twin Study.

Published in:

Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2015, v. 70, n. 5, p. 647, doi. 10.1093/gerona/glu245

By:

Bogo, Renata;
Farah, Ahmed;
Johnson, Ann-Christin;
Karlsson, Kjell K.;
Pedersen, Nancy L.;
Svartengren, Magnus;
Skjönsberg, Åsa

Publication type:

Article

Autonomous linguistic systems in the language of young children.

Published in:

Journal of Child Language, 1997, v. 24, n. 3, p. 651, doi. 10.1017/S0305000997003164

By:

Levy, Yonata

Publication type:

Article

Cognitive Consequences of Congenital Deafness.

Published in:

Journal of Genetic Psychology, 1990, v. 151, n. 1, p. 103, doi. 10.1080/00221325.1990.9914647

By:

Tomlinson-Keasey, Carol;
Smith-Wlnberry, Cheryl

Publication type:

Article

Correlation of cochlear aperture stenosis with cochlear nerve deficiency in congenital unilateral hearing loss and prognostic relevance for cochlear implantation.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82818-9

By:

Orzan, Eva;
Pizzamiglio, Giulia;
Gregori, Massimo;
Marchi, Raffaella;
Torelli, Lucio;
Muzzi, Enrico

Publication type:

Article

Strategy for the Customized Mass Screening of Genetic Sensorineural Hearing Loss in Koreans.

Published in:

Korean Journal of Audiology, 2014, v. 18, n. 2, p. 45, doi. 10.7874/kja.2014.18.2.45

By:

Mun Young Chang;
Byung Yoon Choi

Publication type:

Article

Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00142

By:

Girotto, Giorgia;
Morgan, Anna;
Krishnamoorthy, Navaneethakrishnan;
Cocca, Massimiliano;
Brumat, Marco;
Bassani, Sissy;
La Bianca, Martina;
Di Stazio, Mariateresa;
Gasparini, Paolo

Publication type:

Article

Gilles de la Tourette Syndrome in a child with congenital deafness.

Published in:

European Child & Adolescent Psychiatry, 2001, v. 10, n. 4, p. 256, doi. 10.1007/s007870170015

By:

Dalsgaard, S.;
Damm, D.;
Thomsen, P. H.

Publication type:

Article

Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments.

Published in:

Nature Cell Biology, 2009, v. 11, n. 4, p. 443, doi. 10.1038/ncb1851

By:

Salles, Felipe T.;
Merritt, Raymond C.;
Manor, Uri;
Dougherty, Gerard W.;
Sousa, Aurea D.;
Moore, Judy E.;
Yengo, Christopher M.;
Dosé, Andréa C.;
Kachar, Bechara

Publication type:

Article

Overview of skin diseases linked to connexin gene mutations.

Published in:

International Journal of Dermatology, 2014, v. 53, n. 2, p. 192, doi. 10.1111/ijd.12062

By:

Avshalumova, Lyubov;
Fabrikant, Jordan;
Koriakos, Angie

Publication type:

Article