Works matching Deafness and genetics

Results: 1200

Parental Perspective of the Benefits of Genetic Testing in Children with Congenital Deafness.

Published in:

Public Health Genomics, 2009, v. 12, n. 4, p. 245, doi. 10.1159/000203780

By:

Geelhoed, E. A.;
Harrison, K.;
Davey, A.;
Walpole, I. R.

Publication type:

Article

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.

Published in:

2008

By:

Lezirovitz, Karina;
Pardono, Eliete;
de Mello Auricchio, Maria TB;
de Carvalho e Silva, Fernando L;
Lopes, Juliana J;
Abreu-Silva, Ronaldo S;
Romanos, Jihane;
Batissoco, Ana C;
Mingroni-Netto, Regina C

Publication type:

Correction Notice

The first survey of distribution of inherited deafness patterns in individuals referred to genetic center of Ahvaz welfare organization, Southern Iran.

Published in:

Audiology, 2011, v. 20, n. 2, p. 72

By:

Mohammad Foroughmand, Ali;
Galehdari, Hamid;
Mohammadian, Gholamreza;
Rasekh, Abdolrahman;
Ghavabesh, Jasem

Publication type:

Article

Hearing Status Influences Attitudes Toward Genetic Testing for Deafness.

Published in:

Journal of Genetic Counseling, 2002, v. 11, n. 6, p. 530

By:

Martinez, A.;
Linden, J.;
Schimmenti, L.A.;
Palmer, C.G.S.

Publication type:

Article

Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness.

Published in:

American Journal of Audiology, 2024, v. 33, n. 1, p. 233, doi. 10.1044/2023_AJA-23-00153

By:

Bowden, Acacia;
Hubbel, Alexandra;
Smith, Lindsay;
Hongyue Wang;
Chin-To Fong

Publication type:

Article

Hereditary deafness: lessons for developmental studies and genetic diagnosis.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S232, doi. 10.1007/PL00014409

By:

Read, Andrew P.

Publication type:

Article

Ultrastructure of the Hair in Genetic Prelingual Deafness Associated with the 35delG Mutation in the Connexin 26 Gene (GJB2).

Published in:

Bulletin of Experimental Biology & Medicine, 2009, v. 148, n. 1, p. 79, doi. 10.1007/s10517-009-0637-5

By:

S. Zhuravskiy;
A. Kurus;
A. Taraskina;
S. Ivanov

Publication type:

Article

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 284, doi. 10.1007/s00439-001-0674-2

By:

Shahin, Hashem;
Walsh, Tom;
Sobe, Tama;
Lynch, Eric;
King, Mary-Claire;
Avraham, Karen B.;
Kanaan, Moien

Publication type:

Article

Advances in Molecular Genetics and the Molecular Biology of Deafness.

Published in:

BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/5629093

By:

Nishio, Shin-ya;
Schrauwen, Isabelle;
Moteki, Hideaki;
Azaiez, Hela

Publication type:

Article

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-85

By:

Tao Yang;
Xiaoming Wei;
Yongchuan Chai;
Lei Li;
Hao Wu

Publication type:

Article

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

Published in:

PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151909

By:

Wu, Hong;
Feng, Yong;
Jiang, Lu;
Pan, Qian;
Liu, Yalan;
Liu, Chang;
He, Chufeng;
Chen, Hongsheng;
Liu, Xueming;
Hu, Chang;
Hu, Yiqiao;
Mei, Lingyun

Publication type:

Article

Genetics of Deafness.

Published in:

2018

By:

Vento, Barbara

Publication type:

Book Review

Short Report Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.

Published in:

Clinical Genetics, 2004, v. 65, n. 5, p. 384, doi. 10.1111/j.0009-9163.2004.00235.x

By:

Shears, D.;
Conlon, H.;
Murakami, T.;
Fukai, K.;
Alles, R.;
Trembath, R.;
Bitner-Glindzicz, M.

Publication type:

Article

Hearing molecules: contributions from genetic deafness.

Published in:

Cellular & Molecular Life Sciences, 2007, v. 64, n. 5, p. 566, doi. 10.1007/s00018-007-6417-3

By:

Eisen, M. D.;
Ryugo, D. K.

Publication type:

Article

Genetic Testing and Genetic Counseling for Deafness: The Future Is Here.

Published in:

Laryngoscope, 2001, v. 111, n. 4, p. 715, doi. 10.1097/00005537-200104000-00027

By:

Brunger, Jeannie Weir;
Matthews, Anne L.;
Smith, Richard H. J.;
Robin, Nathaniel H.

Publication type:

Article

GJB2 GENE; ITS CONTRIBUTION TO GENETIC DEAFNESS? : A REVIEW.

Published in:

Professional Medical Journal, 2015, v. 22, n. 2, p. 149, doi. 10.29309/tpmj/2015.22.02.1362

By:

Ullah, Sana;
Rahman, Khaista;
Tariq, Muhammad;
Ahmad, Tauseef

Publication type:

Article

Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort.

Published in:

Audiology & Neurotology, 2025, v. 30, n. 1, p. 70, doi. 10.1159/000540202

By:

Yan, Denise;
Nawab, Aria;
Smeal, Molly;
Liu, Xue-Zhong

Publication type:

Article

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Published in:

International Journal of Audiology, 2013, v. 52, n. 1, p. 23, doi. 10.3109/14992027.2012.736032

By:

Liu, Xue Zhong;
Xie, Dinghua;
Yuan, Hui Jun;
de Brouwer, Arjan P. M.;
Christodoulou, John;
Yan, Denise

Publication type:

Article

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

Published in:

Neural Plasticity, 2018, p. 1, doi. 10.1155/2018/7272308

By:

Wang, Xueling;
Wang, Longhao;
Peng, Hu;
Yang, Tao;
Wu, Hao

Publication type:

Article

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 266, doi. 10.1038/jhg.2009.21

By:

Anwar, Saima;
Riazuddin, Saima;
Ahmed, Zubair M.;
Tasneem, Saba;
Ateeq-ul-Jaleel;
Khan, Shahid Y.;
Griffith, Andrew J.;
Friedman, Thomas B.;
Riazuddin, Sheikh

Publication type:

Article

The genetic bases for non-syndromic hearing loss among Chinese.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 3, p. 131, doi. 10.1038/jhg.2009.4

By:

Xiao Mei Ouyang;
Yan, Denise;
Hui Jun Yuan;
Dai Pu;
Li Lin Du;
Don Yi Han;
Xue Zhong Liu

Publication type:

Article

Growth factor and receptor malfunctions associated with human genetic deafness.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 138, doi. 10.1111/cge.13641

By:

Naz, Sadaf;
Friedman, Thomas B.

Publication type:

Article

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK – implications for genetic testing.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 506, doi. 10.1111/j.1399-0004.2005.00539.x

By:

Hutchin, T.;
Coy, N. N.;
Conlon, H.;
Telford, E.;
Bromelow, K.;
Blaydon, D.;
Taylor, G.;
Coghill, E.;
Brown, S.;
Trembath, R.;
Liu, X. Z.;
Bitner-Glindzicz, M.;
Mueller, R.

Publication type:

Article

Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.

Published in:

Archives of Medical Science, 2024, v. 20, n. 1, p. 113, doi. 10.5114/aoms/146024

By:

Linyuan Niu;
Liqin Liu;
Jinjun Tian;
Wei Chen;
Chunxiao Zhang;
Xinqiang Lan

Publication type:

Article

妊娠期遗传性耳聋易感基因携带者扩展型筛查模式研究.

Published in:

Journal of International Obstetrics & Gynecology, 2023, v. 50, n. 5, p. 514, doi. 10.12280/gjfckx.20230397

By:

谢晓媛;
冯树人;
刘慧坤;
王蕾棽;
刘霞

Publication type:

Article

Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.883617

By:

Xiang, Jiale;
Zhang, Hongfu;
Sun, Xiangzhong;
Zhang, Junqing;
Xu, Zhenpeng;
Sun, Jun;
Peng, Zhiyu

Publication type:

Article

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1637

By:

Baldwin, Clinton T.;
Weiss, Sari;
Farrer, Lindsay A.;
De Stefano, Anita L.;
Adair, Ronald;
Franklyn, Barbara;
Kidd, Kenneth K.;
Korostishevsky, Michael;
Bonné-Tamir, Batsheva

Publication type:

Article

نقش مشاوره ژنتیک در پیشگیری از ناتوانی ذهنی و ناشنوایی دو معلولیت شایع در ایران.

Published in:

Journal of Gorgan University of Medical Sciences, 2024, v. 26, n. 1, p. 1

By:

فاطمه شهرکی;
مرتضی اولاد نبی

Publication type:

Article

Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program.

Published in:

BioScience Trends, 2024, v. 18, n. 4, p. 303, doi. 10.5582/bst.2024.01178

By:

Yu Ruan;
Cheng Wen;
Xiaohua Cheng;
Wei Zhang;
Liping Zhao;
Jinge Xie;
Hongli Lu;
Yonghong Ren;
Fanlin Meng;
Yue Li;
Lin Deng;
Lihui Huang;
Demin Han

Publication type:

Article

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.

Published in:

Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/3018132

By:

Chen, Penghui;
He, Longxia;
Pang, Xiuhong;
Wang, Xiaowen;
Yang, Tao;
Wu, Hao

Publication type:

Article

AAV-mediated precision treatment of SchABE8e in the pou4f3Q113*/+ mouse model.

Published in:

Journal of Hearing Science, 2024, v. 14, n. 3, p. 98

By:

Wang, M.;
Zhang, Z.;
Wang, X.;
Qi, J.;
Chai, R.

Publication type:

Article

Perception of Genetic Testing for Deafness and Factors Associated with Interest in Genetic Testing Among Deaf People in a Selected Population in Sub-Saharan Africa.

Published in:

Journal of Genetic Counseling, 2015, v. 24, n. 6, p. 1037, doi. 10.1007/s10897-015-9843-7

By:

Adedokun, Babatunde;
Yusuf, Bidemi;
Lasisi, J.;
Jinadu, A.;
Sunmonu, M.;
Ashanke, A.;
Lasisi, O.

Publication type:

Article

Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents' Beliefs About the Cause of Their Children's Deafness.

Published in:

Journal of Genetic Counseling, 2013, v. 22, n. 4, p. 448, doi. 10.1007/s10897-012-9565-z

By:

Rodrigues, Fidjy;
Paneque, Milena;
Reis, Cláudia;
Venâncio, Margarida;
Sequeiros, Jorge;
Saraiva, Jorge

Publication type:

Article

Examining the Relationship Between Genetic Counselors’ Attitudes Toward Deaf People and the Genetic Counseling Session.

Published in:

Journal of Genetic Counseling, 2010, v. 19, n. 2, p. 161, doi. 10.1007/s10897-009-9272-6

By:

Enns, Emily;
Boudreault, Patrick;
Palmer, Christina

Publication type:

Article

Attitudes to Genetic Testing for Deafness: The Importance of Informed Choice.

Published in:

Journal of Genetic Counseling, 2006, v. 15, n. 1, p. 51, doi. 10.1007/s10897-005-9003-6

By:

Marilys Guillemin;
Lynn Gillam

Publication type:

Article

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.

Published in:

2019

By:

Varga, Lukas;
Danis, Daniel;
Skopkova, Martina;
Masindova, Ivica;
Slobodova, Zuzana;
Demesova, Lucia;
Profant, Milan;
Gasperikova, Daniela

Publication type:

Case Study

Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord.

Published in:

Acta Oto-Laryngologica, 2011, v. 131, n. 9, p. 976, doi. 10.3109/00016489.2011.583268

By:

Furutate, Sakiko;
Iwasaki, Satoshi;
Nishio, Shin-ya;
Moteki, Hideaki;
Usami, Shin-ichi

Publication type:

Article

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Published in:

Acta Oto-Laryngologica, 2008, v. 128, n. 4, p. 446, doi. 10.1080/00016480701785046

By:

Usami, Shin-Ichi;
Wagatsuma, Michio;
Fukuoka, Hisakuni;
Suzuki, Hiroaki;
Tsukada, Keita;
Nishio, Shinya;
Takumi, Yutaka;
Abe, Satoko

Publication type:

Article

Confronting Genetic Research and Genetic Counseling in Historical Deaf Research.

Published in:

American Annals of the Deaf, 2022, v. 167, n. 4, p. 1, doi. 10.1353/aad.2022.0048

By:

Appenzeller, Margo C.;
Gardiner-Walsh, Stephanie J.

Publication type:

Article

Preimplantation Genetic Diagnosis: Its Role in Prevention of Deafness.

Published in:

2014

By:

Taneja, M.

Publication type:

Editorial

GJB2 and mitochondrial 12S rRNA susceptibility mutations in sudden deafness.

Published in:

European Archives of Oto-Rhino-Laryngology, 2016, v. 273, n. 6, p. 1393, doi. 10.1007/s00405-015-3693-7

By:

Chen, Kaitian;
Sun, Liang;
Zong, Ling;
Wu, Xuan;
Zhan, Yuan;
Dong, Chang;
Cao, Hui;
Tang, Haocheng;
Jiang, Hongyan

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

Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness.

Published in:

Otolaryngology-Head & Neck Surgery, 2012, v. 147, n. 5, p. 975, doi. 10.1177/0194599812454271

By:

Eppsteiner, Robert W.;
Shearer, A. Eliot;
Hildebrand, Michael S.;
Taylor, Kyle R.;
DeLuca, Adam P.;
Scherer, Steve;
Huygen, Patrick;
Scheetz, Todd E.;
Braun, Terry A.;
Casavant, Thomas L.;
Smith, Richard J. H.

Publication type:

Article

Molecular Analysis of Hair Cells in Sensorineural Hearing Loss.

Published in:

Audiology & Neurotology, 2014, v. 19, n. 4, p. 267, doi. 10.1159/000363683

By:

Feng, Xiao;
Qin, Zhaobing

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

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

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 89, doi. 10.1038/sj.ejhg.5201917

By:

Lezirovitz, Karina;
Pardono, Eliete;
de Mello Auricchio, Maria T. B.;
de Carvalho e Silva, Fernando L.;
Lopes, Juliana J.;
Abreu-Silva, Ronaldo S.;
Romanos, Jihane;
Batissoco, Ana C.;
Mingroni-Netto, Regina C.

Publication type:

Article

R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 70, doi. 10.1038/sj.ejhg.5200569

By:

López-Bigas, N.;
Rabionet, R.;
Arbonés, M.L.;
Estivill, X.

Publication type:

Article

High carrier frequency of the 35delG deafness mutation in European populations.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 19

By:

Gasparini, Paolo;
Rabionet, Raquel;
Barbujani, Guido;
Melchionda, Salvatore;
Petersen, Michael;
Brøndum-Nielsen, Karen;
Metspalu, Andres;
Oitmaa, Eneli;
Pisano, Marina;
Fortina, Paolo;
Zelante, Leopoldo;
Estivill, Xavier

Publication type:

Article

Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209797

By:

Erdenechuluun, Jargalkhuu;
Lin, Yin-Hung;
Ganbat, Khongorzul;
Bataakhuu, Delgermaa;
Makhbal, Zaya;
Tsai, Cheng-Yu;
Lin, Yi-Hsin;
Chan, Yen-Hui;
Hsu, Chuan-Jen;
Hsu, Wei-Chung;
Chen, Pei-Lung;
Wu, Chen-Chi

Publication type:

Article