Works matching DE "GENETICS of deafness"

Results: 541

Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3.

Published in:

Neuroradiology, 2019, v. 61, n. 8, p. 949, doi. 10.1007/s00234-019-02230-z

By:

Siddiqui, Ata;
D'Amico, Alessandra;
Colafati, Giovanna Stefania;
Cicala, Domenico;
Talenti, Giacomo;
Rajput, Kaukab;
Pinelli, Lorenzo;
D'Arco, Felice

Publication type:

Article

Genetic cause for NIHL.

Published in:: Noise & Vibration Worldwide, 2015, v. 46, n. 11, p. 4
Publication type:: Article

Appropriate Imaging Modality for the Etiologic Diagnosis of Congenital Single-Sided Deafness in Children.

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 12, p. 515, doi. 10.3390/jcm7120515

By:

Lee, Sang-Yeon;
Kim, Shin Hye;
Bae, Yun Jung;
Kim, Eun Hee;
Koo, Ja-Won;
Choi, Byung Yoon

Publication type:

Article

Prenatal diagnosis and pregnancy termination in Israeli-Arab women of families with a deaf child.

Published in:

Israel Affairs, 2024, v. 30, n. 4, p. 673, doi. 10.1080/13537121.2024.2367866

By:

Amiel, Aliza;
Tarabeih, Mahdi

Publication type:

Article

A Sufficient Limit to “Reasonable” Choices.

Published in:

American Journal of Bioethics, 2012, v. 12, n. 8, p. 36, doi. 10.1080/15265161.2012.692569

By:

DeCamp, Matthew

Publication type:

Article

The Right Not to Be Born: Reinterpreting the Nonidentity Problem.

Published in:

American Journal of Bioethics, 2012, v. 12, n. 8, p. 34, doi. 10.1080/15265161.2012.692449

By:

Jecker, NancyS.

Publication type:

Article

Does the Non-Identity Problem Imply a Double Standard for Physicians and Patients?

Published in:

American Journal of Bioethics, 2012, v. 12, n. 8, p. 38, doi. 10.1080/15265161.2012.692448

By:

Roberts, MelindaA.

Publication type:

Article

Impersonalism in Bioethics.

Published in:

American Journal of Bioethics, 2012, v. 12, n. 8, p. 40, doi. 10.1080/15265161.2012.692441

By:

Ranisch, Robert

Publication type:

Article

The effect of Tai Chi on balance and functional mobility in children with congenital sensorineural hearing loss.

Published in:

Disability & Rehabilitation, 2020, v. 42, n. 12, p. 1736, doi. 10.1080/09638288.2018.1535629

By:

Cetin, Sebahat Yaprak;
Erel, Suat;
Bas Aslan, Ummuhan

Publication type:

Article

Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 1, p. 319, doi. 10.3892/mmr.2016.5280

By:

YUNLONG LI;
BAOSHENG ZHU

Publication type:

Article

Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: Genotype-phenotype correlation patterns.

Published in:

Molecular Medicine Reports, 2015, v. 11, n. 1, p. 619, doi. 10.3892/mmr.2014.2725

By:

TUNG-CHENG LI;
WEN-HUNG WANG;
CHUAN LI;
JIANN-JOU YANG

Publication type:

Article

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

Published in:

1999

By:

Green, Glenn E.;
Scott, Daryl A.;
McDonald, Joshua M.;
Sheffield, Val C.;
Smith, Richard J. H.;
Green, G E;
Scott, D A;
McDonald, J M;
Woodworth, G G;
Sheffield, V C;
Smith, R J

Publication type:

journal article

Hearing Loss in Persons Exposed and not Exposed to Occupational Noise.

Published in:

Journal of International Advanced Otology, 2016, v. 12, n. 1, p. 49, doi. 10.5152/iao.2016.1770

By:

Kovalova, Martina;
Mrazkova, Eva;
Sachova, Petra;
Vojkovska, Kristyna;
Tomaskova, Hana;
Janoutova, Jana;
Janout, Vladimir

Publication type:

Article

CONSANGUINEOUS MARRIAGES AS A CAUSE OF CONGENITAL DEAFNESS (CASE OF UZBEKISTAN).

Published in:

Journal of International Advanced Otology, 2015, v. 11, p. 74

By:

Karimova, Nargiza

Publication type:

Article

CROSSMODAL PLASTICITY IN DEAF AUDITORY CORTEX MEDIATES ENHANCED FACE PERCEPTION IN THE CONGENITALLY DEAF.

Published in:

Journal of International Advanced Otology, 2015, v. 11, p. 3

By:

Lomber, Stephen G.;
Meredith, M. Alex;
Kral, Andrej

Publication type:

Article

Connexin 26 (GJB2) and connexin 30 del(GJB6-D13S1830) mutations in Slovenians with prelingual non-syndromic deafness.

Published in:

Journal of International Advanced Otology, 2011, v. 7, n. 3, p. 372

By:

Battellino, Saba;
Rudolf, Gorazd;
Zargi, Miha;
Podkrajsek, Katarina Trebusak;
Peterlin, Borut

Publication type:

Article

GJB2 35delG and Mitochondrial A1555G Mutations and Etiology of Deafness at the Gelibolu School for the Deaf in Turkey.

Published in:

Journal of International Advanced Otology, 2011, v. 7, n. 3, p. 361

By:

Silan, Fatma;
Guclu, Oguz;
Kadioglu, Laliz Esin;
Silan, Coskun;
Atik, Sinem;
Uludag, Ahmet;
Demiray, Asli;
Ozdemir, Ozturk;
Derekoy, Fevzi Sefa

Publication type:

Article

Comparison of Hearing Screening Protocols for Universal Newborn Hearing Screening In Turkey.

Published in:

Journal of International Advanced Otology, 2011, v. 7, n. 1, p. 223

By:

Erturk, Benan Berrin;
Genc, Gulsum Aydan;
Ozkan, Soner

Publication type:

Article

Hearing Screening Protocols of Babies with Hearing Loss Risk Factors in Turkey.

Published in:

Journal of International Advanced Otology, 2011, v. 7, n. 1, p. 216

By:

Garabli, Hatice;
Genc, G. Aydan;
Kayikci, Mavis E. Kulak;
Turkyilmaz, M. Didem;
Ozturk, Burak;
Karabulut, Erdem;
Korkmaz, Ayse;
Belgin, Erol

Publication type:

Article

Comparison of Hearing Screening Protocols for Universal Newborn Hearing Screening In Turkey.

Published in:

Journal of International Advanced Otology, 2010, v. 6, n. 2, p. 233

By:

Erturk, Benan Berrin;
Genc, Gulsum Aydan;
Ozkan, Soner

Publication type:

Article

Hearing Screening Protocols of Babies with Hearing Loss Risk Factors in Turkey.

Published in:

Journal of International Advanced Otology, 2010, v. 6, n. 2, p. 216

By:

Garabli, Hatice;
Genc, G. Aydan;
Kayikci, Mavis E. Kulak;
Turkyilmaz, M. Didem;
Ozturk, Burak;
Karabulut, Erdem;
Korkmaz, Ayse;
Belgin, Erol

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

Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.

Published in:

Biochemical Genetics, 2017, v. 55, n. 5/6, p. 410, doi. 10.1007/s10528-017-9828-3

By:

Shaikh, Hina;
Waryah, Ali;
Narsani, Ashok;
Iqbal, Muhammad;
Shahzad, Mohsin;
Waryah, Yar;
Shaikh, Naila;
Mahmood, Amber

Publication type:

Article

Contribution of GJB2 Mutations to Hearing Loss in the Hazara Division of Pakistan.

Published in:

Biochemical Genetics, 2013, v. 51, n. 7/8, p. 524, doi. 10.1007/s10528-013-9583-z

By:

Bukhari, Ihtisham;
Mujtaba, Ghulam;
Naz, Sadaf

Publication type:

Article

SLC26A4 Mutations in Patients with Moderate to Severe Hearing Loss.

Published in:

Biochemical Genetics, 2013, v. 51, n. 7/8, p. 514, doi. 10.1007/s10528-013-9582-0

By:

Khan, Muhammad;
Bashir, Rasheeda;
Naz, Sadaf

Publication type:

Article

Two Novel Missense Mutations in the Connexin 26 Gene in Turkish Patients with Nonsyndromic Hearing Loss.

Published in:

Biochemical Genetics, 2010, v. 48, n. 3/4, p. 248, doi. 10.1007/s10528-009-9314-7

By:

Yilmaz, Akin;
Menevse, Sevda;
Bayazit, Yildirim;
Karamert, Recep;
Ergin, Volkan;
Menevse, Adnan

Publication type:

Article

Evaluation of vestibular function and visual function in adults with congenital deafness.

Published in:

Japanese Journal of Clinical Sports Medicine / Nihon Rinsho Supotsu, 2010, v. 18, n. 2, p. 297

By:

Nakajima, Y.;
Sakuraba, K.;
Kasai, M.;
Takekoshi, H.;
Jin, Y.;
Kaga, K.

Publication type:

Article

Noise-Induced Dysregulation of Quaking RNA Binding Proteins Contributes to Auditory Nerve Demyelination and Hearing Loss.

Published in:

Journal of Neuroscience, 2018, v. 38, n. 10, p. 2551, doi. 10.1523/JNEUROSCI.2487-17.2018

By:

Panganiban, Clarisse H.;
Barth, Jeremy L.;
Darbelli, Lama;
Yazhi Xing;
Jianning Zhang;
Hui Li;
Noble, Kenyaria V.;
Ting Liu;
Brown, Lashardai N.;
Schulte, Bradley A.;
Richard, Stephane;
Hainan Lang

Publication type:

Article

A Short Splice Form of Xin-Actin Binding Repeat Containing 2 (XIRP2) Lacking the Xin Repeats Is Required for Maintenance of Stereocilia Morphology and Hearing Function.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 5, p. 1999, doi. 10.1523/JNEUROSCI.3449-14.2015

By:

Francis, Shimon P.;
Krey, Jocelyn F.;
Krystofiak, Evan S.;
Cui, Runjia;
Nanda, Sonali;
Wenhao Xu;
Kachar, Bechara;
Barr-Gillespie, Peter G.;
Shin, Jung-Bum

Publication type:

Article

Screening of noise-induced hearing loss (NIHL)-associated SNPs and the assessment of its genetic susceptibility.

Published in:

2019

By:

Zhang, Xuhui;
Ni, Yaqin;
Liu, Yi;
Zhang, Lei;
Zhang, Meibian;
Fang, Xinyan;
Yang, Zhangping;
Wang, Qiang;
Li, Hao;
Xia, Yuyong;
Zhu, Yimin

Publication type:

journal article

Interaction of Dual Sensory Loss, Cognitive Function, and Communication in People Who Are Congenitally Deaf-Blind.

Published in:

Journal of Visual Impairment & Blindness, 2010, v. 104, n. 11, p. 719, doi. 10.1177/0145482X1010401108

By:

Dammeyer, Jesper

Publication type:

Article

Auditory neuroplasticity, hearing loss and cochlear implants.

Published in:

Cell & Tissue Research, 2015, v. 361, n. 1, p. 251, doi. 10.1007/s00441-014-2004-8

By:

Ryugo, David

Publication type:

Article

Auditory feedback modulates development of kitten vocalizations.

Published in:

Cell & Tissue Research, 2015, v. 361, n. 1, p. 279, doi. 10.1007/s00441-014-2059-6

By:

Hubka, Peter;
Konerding, Wiebke;
Kral, Andrej

Publication type:

Article

Fertilization: Welcome to the fold.

Published in:

Nature, 2008, v. 456, n. 7222, p. 586, doi. 10.1038/456586a

By:

Wassarman, Paul M.

Publication type:

Article

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.

Published in:

2008

By:

Verpy, Elisabeth;
Weil, Dominique;
Leibovici, Michel;
Goodyear, Richard J.;
Hamard, Ghislaine;
Houdon, Carine;
Lefèvre, Gaelle M.;
Hardelin, Jean-Pierre;
Richardson, Guy P.;
Avan, Paul;
Petit, Christine

Publication type:

Letter

Acoustics: Chuckle vision.

Published in:: Nature, 2008, v. 454, n. 7203, p. 370, doi. 10.1038/454370c
Publication type:: Article

Genetics: Deaf by design.

Published in:

Nature, 2004, v. 431, n. 7011, p. 894, doi. 10.1038/431894a

By:

Dennis, Carina

Publication type:

Article

Genes influence age-related hearing loss.

Published in:: Noise & Vibration Worldwide, 2008, v. 39, n. 1, p. 24
Publication type:: Article

Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 11, doi. 10.3390/ijns10010011

By:

Paul, Antoine;
Bense, Fanny;
Boithias Guerot, Claire;
De La Rubia, Sofia;
Lebeaux, Cécile;
Papon, Jean-François

Publication type:

Article

Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.

Published in:

2013

By:

Luigetti, Marco;
Zollino, Marcella;
Conti, Guido;
Romano, Angela;
Sabatelli, Mario

Publication type:

Letter

REPRODUCTION, ETHICS AND HERITABLE DEAFNESS: three South Island families express their views.

Published in:

Sites: A Journal of Social Anthropology & Cultural Studies, 2013, v. 10, n. 2, p. 129, doi. 10.11157/sites-vol10iss2id251

By:

Fitzgerald, Ruth P.;
Bathard, Hayley;
Broad, Rosie;
Legge, Michael

Publication type:

Article

Maternally Inherited Diabetes Mellitus and Deafness (MIDD): A Case Report and Review of Literature.

Published in:

Journal of Diabetology: Official Journal of Diabetes in Asia Study Group, 2023, v. 14, n. 3, p. 173, doi. 10.4103/jod.jod_21_23

By:

Agrawal, Prabhat K.;
Pursnani, Nikhil;
Gautam, Ashish;
Singh, Akhil P.;
Singh, Awadhesh K.

Publication type:

Article

Atopic dermatitis and congenital deafness.

Published in:

British Journal of Dermatology, 1978, v. 99, n. 3, p. 325, doi. 10.1111/j.1365-2133.1978.tb02004.x

By:

Larsen, F. Schultz;
Vase, P.;
Schmidt, H.

Publication type:

Article

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 599, doi. 10.1038/jhg.2014.78

By:

Lu, Yu;
Zhou, Xueya;
Jin, Zhanguo;
Cheng, Jing;
Shen, Weidong;
Ji, Fei;
Liu, Liyang;
Zhang, Xuegong;
Zhang, Michael;
Cao, Ye;
Han, Dongyi;
Choy, KwongWai;
Yuan, Huijun

Publication type:

Article

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 5, p. 262, doi. 10.1038/jhg.2014.12

By:

Miyagawa, Maiko;
Nishio, Shin-ya;
Usami, Shin-ichi

Publication type:

Article

A commentary on 'TECTA mutations in Japanese with mid-frequency hearing loss affected by Zona Pellucida domain protein secretion'.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 10, p. 619, doi. 10.1038/jhg.2012.89

By:

Maeda, Yukihide;
Fukushima, Kunihiro

Publication type:

Article

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 631, doi. 10.1038/jhg.2011.72

By:

Barashkov, Nikolay A;
Dzhemileva, Lilya U;
Fedorova, Sardana A;
Teryutin, Fedor M;
Posukh, Olga L;
Fedotova, Elvira E;
Lobov, Simeon L;
Khusnutdinova, Elza K

Publication type:

Article