Works matching DE "GENETICS of deafness"

Results: 541

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

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria (Communicated by Richard G.H. Cotton) Online Citation: Human Mutation, Mutation in Brief #638 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167

By:

Barbara Günther;
Andrea Steiner;
Doris Nekahm-Heis;
Klaus Albegger;
Patrick Zorowka;
Gerd Utermann;
Andreas Janecke

Publication type:

Article

The 342?kb deletion in GJB6 is not present in patients with non?syndromic hearing loss from AustriaCommunicated by Richard G.H. CottonOnline Citation:Human Mutation, Mutation in Brief #638 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167

By:

Barbara Günther;
Andrea Steiner;
Doris Nekahm?Heis;
Klaus Albegger;
Patrick Zorowka;
Gerd Utermann;
Andreas Janecke

Publication type:

Article

Connexin 26 Gene Mutations in Non-Syndromic Hearing Loss Among Kuwaiti Patients.

Published in:

Medical Principles & Practice, 2013, v. 23, n. 1, p. 74, doi. 10.1159/000348304

By:

Al-Sebeih, Khalid;
Al-Kandari, Marium;
Al-Awadi, Sadika A.;
Hegazy, Fatma F.;
Al-Khamees, Ghada A.;
Naguib, Kamal K.;
Al-Dabbous, Reem M.

Publication type:

Article

Vestibular Functions of Hereditary Hearing Loss Patients with GJB2 Mutations.

Published in:

Audiology & Neurotology, 2015, v. 20, n. 3, p. 147, doi. 10.1159/000368292

By:

Tsukada, Keita;
Fukuoka, Hisakuni;
Usami, Shin-ichi

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

Identification of Novel Variants in the Cx29 Gene of Nonsyndromic Hearing Loss Patients Using Buccal Cells and Restriction Fragment Length Polymorphism Method.

Published in:

Audiology & Neurotology, 2010, v. 15, n. 2, p. 81, doi. 10.1159/000231633

By:

Wen-Hung Wang;
Jiann-Jou Yang;
Yen-Chun Lin;
Jen-Tsung Yang;
Chien-Hui Chan;
Shuan-Yow Li

Publication type:

Article

Expression of Cochlin mRNA Splice Variants in the Inner Ear.

Published in:

Audiology & Neurotology, 2010, v. 15, n. 2, p. 88, doi. 10.1159/000231634

By:

Sekine, Kuwon;
Ikezono, Tetsuo;
Matsumura, Tomohiro;
Shindo, Susumu;
Watanabe, Atsushi;
Lishu Li;
Pawankar, Ruby;
Nishino, Takeshi;
Yagi, Toshiaki

Publication type:

Article

Cochlear Implant in Children with Asymptomatic Congenital Cytomegalovirus Infection.

Published in:

Audiology & Neurotology, 2009, v. 14, n. 3, p. 146, doi. 10.1159/000171476

By:

Iwasaki, Satoshi;
Nakanishi, Hiroshi;
Misawa, Kiyoshi;
Tanigawa, Toru;
Mizuta, Kunihiro

Publication type:

Article

Is There an Overlap between Sudden Neurosensorial Hearing Loss and Cardiovascular Risk Factors?

Published in:

Audiology & Neurotology, 2009, v. 14, n. 3, p. 139, doi. 10.1159/000171475

By:

Ballesteros, F.;
Alobid, I.;
Tassies, D.;
Reverter, J. C.;
Scharf, R. E.;
Guilemany, J. M.;
Bernal-Sprekelsen, M.

Publication type:

Article

Prospective Mutation Screening of Three Common Deafness Genes in a Large Taiwanese Cohort with Idiopathic Bilateral Sensorineural Hearing Impairment Reveals a Difference in the Results between Families from Hospitals and Those from Rehabilitation Facilities

Published in:

Audiology & Neurotology, 2008, v. 13, n. 3, p. 172, doi. 10.1159/000112425

By:

Wu, Chen-Chi;
Chen, Pei-Jer;
Chiu, Yu-Hsun;
Lu, Ying-Chang;
Wu, Ming-Chueh;
Hsu, Chuan-Jen

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

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

The genetics of hair-cell function in zebrafish.

Published in:

Journal of Neurogenetics, 2017, v. 31, n. 3, p. 102, doi. 10.1080/01677063.2017.1342246

By:

Nicolson, Teresa

Publication type:

Article

Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4296, doi. 10.3892/ol.2018.7876

By:

Hao, Yan;
Chen, Dawei;
Zhang, Zhiguo;
Zhou, Ping;
Cao, Yunxia;
Wei, Zhaolian;
Xu, Xiaofeng;
Chen, Beili;
Zou, Weiwei;
Lv, Mingrong;
Ji, Dongmei;
He, Xiaojin

Publication type:

Article

Goiter and hearing impairment: A case of a male patient with Pendred syndrome.

Published in:

2014

By:

ER-WEI HU;
LI-BIN LIU;
RUO-YU JIANG;
XIANG-HUI HE

Publication type:

Case Study

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

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

tRNA‐derived fragments are altered in diabetes.

Published in:

Diabetic Medicine, 2024, v. 41, n. 2, p. 1, doi. 10.1111/dme.15258

By:

Ng, N.;
Gibriel, H. A. Y.;
Halang, L.;
Jirström, E.;
Ioana, J. A.;
Burke, M.;
Byrne, M. M.;
Prehn, J. H. M.

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

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 141, doi. 10.2147/TACG.S113828

By:

Fedick, Anastasia M.;
Jalas, Chaim;
Swaroop, Ananya;
Smouha, Eric E.;
Webb, Bryn D.

Publication type:

Article

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 4, p. 502, doi. 10.1038/ejhg.2008.179

By:

Mani, Ram Shankar;
Ganapathy, Aparna;
Jalvi, Rajeev;
Srikumari Srisailapathy, C. R.;
Malhotra, Vikas;
Chadha, Shelly;
Agarwal, Arun;
Ramesh, Arabandi;
Rangasayee, Raghunath Rao;
Anand, Anuranjan

Publication type:

Article

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 4, p. 474, doi. 10.1038/ejhg.2008.167

By:

Hmani-Aifa, Mounira;
Benzina, Zeineb;
Zulfiqar, Fareeha;
Dhouib, Houria;
Shahzadi, Amber;
Ghorbel, Abdelmonem;
Rebaï, Ahmed;
Söderkvist, Peter;
Riazuddin, Sheikh;
Kimberling, William J.;
Ayadi, Hammadi

Publication type:

Article

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 4, p. 517, doi. 10.1038/ejhg.2008.201

By:

Hilgert, Nele;
Huentelman, Matthew J.;
Thorburn, Ashley Q.;
Fransen, Erik;
Dieltjens, Nele;
Mueller-Malesinska, Malgorzata;
Pollak, Agnieszka;
Skorka, Agata;
Waligora, Jaroslaw;
Ploski, Rafal;
Castorina, Pierangela;
Primignani, Paola;
Ambrosetti, Umberto;
Murgia, Alessandra;
Orzan, Eva;
Pandya, Arti;
Arnos, Kathleen;
Norris, Virginia;
Seeman, Pavel;
Janousek, Petr

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

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 4, p. 279, doi. 10.1038/sj.ejhg.5201147

By:

Feldmann, Delphine;
Denoyelle, Françoise;
Loundon, Natalie;
Weil, Dominique;
Garabedian, Erea-Noel;
Couderc, Remy;
Joannard, Alain;
Schmerber, Sébastien;
Delobel, Bruno;
Leman, Jacques;
Journel, Hubert;
Catros, Hélène;
Ferrec, Claude;
Drouin-Garraud, Valérie;
Obstoy, Marie-Françoise;
Moati, Lucien;
Petit, Christine;
Marlin, Sandrine

Publication type:

Article

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1--14q24.3 in large consanguineous kindred from Pakistan.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 77, doi. 10.1038/sj.ejhg.5200905

By:

Ansar, Muhammad;
Amin ud Din, Mohammad;
Arshad, Muhammad;
Sohail, Muhammad;
Faiyaz-Ul-Haque, Mohammad;
Haque, Sayedul;
Ahmad, Wasim;
Leal, Suzanne M.

Publication type:

Article

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 851, doi. 10.1038/sj.ejhg.5200894

By:

Chapiro, Elise;
Feldmann, Delphine;
Denoyelle, Françoise;
Sternberg, Damien;
Jardel, Claude;
Eliot, Marie-Madeleine;
Bouccara, Didier;
Weil, Dominique;
Garabédian, Eréa-Noel;
Couderc, Rémy;
Petit, Christine;
Marlin, Sandrine

Publication type:

Article

Mutations of Cx25 gene (GJB2) for prelingual deafness in Taiwan.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 8, p. 495, doi. 10.1038/sj.ejhg.5200838

By:

Wang, Y.-C.;
Kung, C.-Y.

Publication type:

Article

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 9, p. 667, doi. 10.1038/sj.ejhg.5200707

By:

Mangino, Massimo;
Flex, Elisabetta;
Capon, Francesca;
Sangiuolo, Federica;
Carraro, Edoardo;
Gualandi, Francesca;
Mazzoli, Manuela;
Martini, Alessandro;
Novelli, Giuseppe;
Dallapiccola, Bruno

Publication type:

Article

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 226, doi. 10.1038/sj.ejhg.5200607

By:

Löffler, Judith;
Nekahm, Doris;
Hirst-Stadlmann, Almut;
Günther, Barbara;
Menzel, Hans-Jürgen;
Utermann, Gerd;
Janecke, Andreas R

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

Letter.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 151, doi. 10.1038/sj.ejhg.5200596

By:

Anichkina, Anna;
Kulenich, Tatiana;
Zinchenko, Sergey;
Shagina, Irena;
Polyakov, Aleksander;
Ginter, Evgenii;
Evgrafov, Oleg;
Viktorova, Tatiana;
Khusnitdonova, Elza

Publication type:

Article

Maternally inherited deafness associated with a T1095C mutation in the mDNA.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 147, doi. 10.1038/sj.ejhg.5200601

By:

Tessa, Alessandro;
Giannotti, Aldo;
Tieri, Luigi;
Vilarinho, Laura;
Marotta, Giacomo;
Santorelli, Filippo M

Publication type:

Article

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23–q31.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 991, doi. 10.1038/sj.ejhg.5200567

By:

Pulleyn, L J;
Jackson, A P;
Roberts, E;
Carridice, A;
Muxworthy, C;
Houseman, M;
Al-Gazali, L I;
Lench, N J;
Markham, A F;
Mueller, R F

Publication type:

Article

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 2, p. 141, doi. 10.1038/sj.ejhg.5200407

By:

Kelsell, David P;
Wilgoss, Amanda L;
Richard, Gabriela;
Stevens, Howard P;
Munro, Colin S;
Leigh, Irene M

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

Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 255, doi. 10.1038/sj.ejhg.5200273

By:

Alloisio, Nicole;
Morlé, Laurette;
Bozon, Muriel;
Godet, Jacqueline;
Verhoeven, Kristien;
Van Camp, Guy;
Plauchu, Henri;
Muller, Philippe;
Collet, Lionel;
Lina-Granade, Geneviève

Publication type:

Article

DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25–qter.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 243, doi. 10.1038/sj.ejhg.5200269

By:

Moynihan, Leanne;
Houseman, Mark;
Newton, Valerie;
Mueller, Robert;
Lench, Nicholas

Publication type:

Article

Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 563, doi. 10.1038/sj.ejhg.5200239

By:

Abe, Satoko;
Usami, Shin-ichi;
Shinkawa, Hideichi;
Weston, Mike D;
Overbeck, Larry D;
Hoover, Denise M;
Kenyon, Judy B;
Horai, Satoshi;
Kimberling, William J

Publication type:

Article

Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 548, doi. 10.1038/sj.ejhg.5200261

By:

Mustapha, Mirna;
Salem, Nabiha;
Weil, Dominique;
El-Zir, Elie;
Loiselet, Jacques;
Petit, Christine

Publication type:

Article

A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 341, doi. 10.1038/sj.ejhg.5200201

By:

Leal, Suzanne M;
Apaydin, Fazil;
Barnwell, Carol;
Iber, Metin;
Kandogan, Tolga;
Pfister, Markus;
Braendle, Uwe;
Cura, Orhan;
Schwalb, Marvin;
Zenner, Hans-Peter;
Vitale, Emilia

Publication type:

Article

A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 3, p. 245, doi. 10.1038/sj.ejhg.5200177

By:

Mustapha, Mirna;
Chardenoux, Sébastien;
Nieder, Alexandre;
Salem, Nabiha;
Weissenbach, Jean;
El-Zir, Elie;
Loiselet, Jacques;
Petit, Christine

Publication type:

Article

Long QT in children with congenital deafness: a brief report.

Published in:

Tehran University Medical Journal, 2013, v. 71, n. 5, p. 340

By:

Asbagh, Naseraldin Akbari;
Asbagh, Parvin Akbari;
Keihanidoust, Zarrintaj;
Eghbali, Aliashraf

Publication type:

Article

Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: Findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortium.

Published in:

BMC Medical Genomics, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s12920-015-0112-2

By:

Harrison, Sean;
Lewis, Sarah J.;
Hall, Amanda J.;
Vuckovic, Dragana;
Girotto, Giorgia;
Martin, Richard M.;
Adams, Josephine C.

Publication type:

Article

X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4.

Published in:

American Journal of Audiology, 2014, v. 23, n. 1, p. 1, doi. 10.1044/1059-0889(2013/13-0018)

By:

Anger, Gregory J.;
Crocker, Susan;
McKenzie, Kyle;
Brown, Kerry K.;
Morton, Cynthia C.;
Harrison, Karen;
MacKenzie, Jennifer J.

Publication type:

Article