Works matching Diagnosis of deafness

Results: 917

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

Galvanic Skin Response in the Differential Diagnosis of Deafness.

Published in:

1947

By:

Hochmuth, Marie

Publication type:

Abstract

Molecular Diagnosis of Deafness—A Preface.

Published in:

Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 5S, doi. 10.1177/0003489415581802

By:

Usami, Shin-ichi

Publication type:

Article

Molecular diagnosis of deafness: impact of gene identification.

Published in:

2002

By:

Usami, Shin-ichi;
Koda, Eiko;
Tsukamoto, Koji;
Otsuka, Akihiro;
Yuge, Isamu;
Asamura, Kenji;
Abe, Satoko;
Akita, Jiro;
Namba, Atsushi

Publication type:

journal article

Use of Auditory Steady-State Response in infants less than 6 months in diagnosis confirmation of deafness after neonatal screening.

Published in:

Journal of Hearing Science, 2018, v. 8, n. 2, p. 163

By:

Mehtari-Chabane Sari, N. S.;
Hadj Allal, F.;
Mebarki, F.;
Sahraoui, M.;
Brahami, I.

Publication type:

Article

Surdez Congénita ou Precocemente Adquirida: Do Rastreio ao Seguimento, um Retrato de Portugal.

Published in:

Acta Médica Portuguesa, 2019, v. 32, n. 12, p. 767, doi. 10.20344/amp.11880

By:

OLIVEIRA, Catarina;
MACHADO, Marta;
ZENHA, Raquel;
AZEVEDO, Luísa;
MONTEIRO, Luísa;
BICHO, Adelaide

Publication type:

Article

Case report: Prenatal diagnosis in the fetus of a couple with both thalassemia and deafness genes.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1258293

By:

Youqiong Li;
Liang Liang;
Jinping Bai;
Lihong Zheng;
Ting Qin

Publication type:

Article

Preliminary investigation of the diagnosis and gene function of deep learning PTPN11 gene mutation syndrome deafness.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1113095

By:

Xionghui Wu;
Min Huang;
Weiqing Huang;
Sijun Zhao;
Jiang Xie;
Guangliang Liu;
Shuting Chang

Publication type:

Article

Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.

Published in:

2001

By:

Antoniadi, Thalia;
Pampanos, Andreas;
Petersen, Michael B.;
Antoniadi, T;
Pampanos, A;
Petersen, M B

Publication type:

journal article

Clinical characteristics of delayed endolymphatic hydrops in Japan: A nationwide survey by the Peripheral Vestibular Disorder Research Committee of Japan.

Published in:

Acta Oto-Laryngologica, 2010, v. 130, n. 10, p. 1135, doi. 10.3109/00016481003745543

By:

Shojaku, Hideo;
Watanabe, Yukio;
Takeda, Noriaki;
Ikezono, Tetsuo;
Takahashi, Masahiro;
Kakigi, Akinobu;
Ito, Juichi;
Doi, Katsumi;
Suzuki, Mamoru;
Takumida, Masaya;
Takahashi, Katsumasa;
Yamashita, Hiroshi;
Koizuka, Izumi;
Usami, Shinichi;
Aoki, Mitsuhiro;
Naganuma, Hideaki

Publication type:

Article

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 7, p. 391, doi. 10.1007/s10815-009-9335-5

By:

Altarescu, Gheona;
Eldar-Geva, Talia;
Brooks, Baruch;
Zylber-Haran, Edith;
Varshaver, Irit;
Margalioth, Ehud J.;
Levy-Lahad, Ephrat;
Renbaum, Paul

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

Unilateral hearing loss in children: a retrospective study and a review of the current literature.

Published in:

2017

By:

Rohlfs, Anna-Katharina;
Friedhoff, Johannes;
Bohnert, Andrea;
Breitfuss, Achim;
Hess, Markus;
Müller, Frank;
Strauch, Anke;
Röhrs, Marianne;
Wiesner, Thomas

Publication type:

journal article

Diagnostic Value of Auditory Brain Stem Responses (ABR) in Differential Diagnosis Between Cochlear Deafness and Acoustic Neuromas.

Published in:

Acta Oto-Laryngologica, 1983, v. 95, n. S393, p. 85, doi. 10.3109/00016488309129582

By:

O-Uchi, Toshiaki;
Kanzaki, Jin

Publication type:

Article

Hearing recovery from deafness caused by bromate intoxication.

Published in:

Journal of Laryngology & Otology, 2018, v. 132, n. 11, p. 1039, doi. 10.1017/S0022215118002001

By:

Suzuki, J;
Takanashi, Y;
Koyama, A;
Katori, Y

Publication type:

Article

Molecular and clinical studies of X-linked deafness among Pakistani families.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 534, doi. 10.1038/jhg.2011.55

By:

Waryah, Ali M;
Ahmed, Zubair M;
Binder, Munir A;
Choo, Daniel I;
Sisk, Robert A;
Shahzad, Mohsin;
Khan, Shaheen N;
Friedman, Thomas B;
Riazuddin, Sheikh;
Riazuddin, Saima

Publication type:

Article

Association of SLC26A4 muations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 9, p. 805, doi. 10.1007/s10038-006-0027-z

By:

Iwasaki, Satoshi;
Tsukamoto, Koji;
Usami, Shinichi;
Misawa, Kiyoshi;
Mizuta, Kunihiro;
Mineta, Hiroyuki

Publication type:

Article

Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness.

Published in:

Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/605053

By:

Nikki, Rink;
Martin, Bitzan;
Gus, O'Gorman;
Mato, Nagel;
Elena, Torban;
Paul, Goodyer

Publication type:

Article

Germline mosaicism in keratitis–ichthyosis–deafness syndrome: pre-natal diagnosis in a familial lethal form.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 587, doi. 10.1111/j.1399-0004.2009.01339.x

By:

Sbidian, E.;
Feldmann, D.;
Bengoa, J.;
Fraitag, S.;
Abadie, V.;
de Prost, Y.;
Bodemer, C.;
Hadj-Rabia, S.

Publication type:

Article

Prenatal Diagnosis for Inherited Deafness—What is the Potential Demand?

Published in:

Journal of Genetic Counseling, 2001, v. 10, n. 2, p. 121, doi. 10.1023/A:1009439630457

By:

Middleton, Anna;
Hewison, Jenny;
Mueller, Robert

Publication type:

Article

Parental Conceptualizations of Autism and Deafness in British Deaf Children.

Published in:

Journal of Deaf Studies & Deaf Education, 2019, v. 24, n. 3, p. 280, doi. 10.1093/deafed/enz002

By:

Young, Alys;
Ferguson-Coleman, Emma;
Wright, Barry;
Couteur, Ann Le

Publication type:

Article

Genetic Screening of Deaf Children: Ethical Considerations.

Published in:

Revista de Cercetare si Interventie Sociala, 2018, v. 60, p. 180

By:

RADULESCU, Luminita;
MARTU, Cristian;
RADULESCU, Tudor;
DIMA-COZMA, Lucia Corina;
BITERE, Oana;
BUTNARU, Corina;
STEFANESCU, Horatiu;
COZMA, Sebastian

Publication type:

Article

A Case of Cortical Deafness due to Bilateral Heschl Gyrus Infarct.

Published in:

Case Reports in Medicine, 2017, p. 1, doi. 10.1155/2017/6816748

By:

Narayanan, Santhosh;
Majeed, K. Abdul;
Subramaniam, Gomathy;
Narayanan, Arathi;
Navaf, K. M.

Publication type:

Article

After early identification--what follows? A study of some aspects of deaf education from an otolaryngological viewpoint.

Published in:

1984

By:

Stewart, Irwin F.;
Stewart, I F

Publication type:

journal article

Preimplantation genetic diagnosis for nonsyndromic deafness by polar body and blastomere biopsy.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-46

By:

G., Altarescu;
T., Eldar-Geva;
B., Brooks;
E., Haran;
E. J., Margalioth;
E., Levy-Lahad;
P., Renbaum

Publication type:

Article

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.

Published in:

BMC Endocrine Disorders, 2019, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12902-019-0438-4

By:

Joseph, Anne D. D.;
Sirisena, Nirmala D.;
Kumanan, Thirunavukarasu;
Sujanitha, Vathualan;
Strelow, Veronika;
Yamamoto, Raina;
Wieczorek, Stefan;
Dissanayake, Vajira H. W.

Publication type:

Article

Preimplantation Genetic Diagnosis: Its Role in Prevention of Deafness.

Published in:

2014

By:

Taneja, M.

Publication type:

Editorial

Preimplantation Genetic Diagnosis and Deafness.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2012, v. 64, n. 2, p. 103, doi. 10.1007/s12070-012-0569-7

By:

Taneja, M. K.

Publication type:

Article

Hereditary deafness in Kirov oblast: Estimation of the incidence rate and DNA diagnosis in children.

Published in:

Russian Journal of Genetics, 2012, v. 48, n. 4, p. 455, doi. 10.1134/S1022795412030131

By:

Zinchenko, R.;
Osetrova, A.;
Sharonova, E.

Publication type:

Article

Choosing Deafness with Preimplantation Genetic Diagnosis: An Ethical Way to Carry on a Cultural Bloodline?

Published in:

Cambridge Quarterly of Healthcare Ethics, 2010, v. 19, n. 1, p. 86, doi. 10.1017/S0963180109990272

By:

Camporesi, Silvia

Publication type:

Article

A Subjective Rating Scale for Initial Assessment of Sudden Unilateral Sensorineural Hearing Loss.

Published in:

2017

By:

Ungar, Omer J.;
Cavel, Oren;
Oron, Yahav;
Wengier, Anat;
Wasserzug, Oshri;
Handzel, Ophir

Publication type:

journal article

Aging, Cognitive Load, Dementia and Hearing Loss.

Published in:

Audiology & Neurotology, 2015, p. 2, doi. 10.1159/000371593

By:

Martini, alessandro;
Castiglione, alessandro;
Bovo, Roberto;
Vallesi, antonino;
Gabelli, Carlo

Publication type:

Article

Validation of the Thai Five-Minute Hearing Test to Screen Hearing Loss in the Community.

Published in:

Audiology & Neurotology, 2014, v. 19, n. 2, p. 127, doi. 10.1159/000357492

By:

Yimtae, Kwanchanok;
Kasemsiri, Pornthep;
Thanawirattananit, Panida;
Siripaopradith, Pipop

Publication type:

Article

Hearing in Patients with Intracanalicular Vestibular Schwannomas.

Published in:

Audiology & Neurotology, 2007, v. 12, n. 1, p. 1, doi. 10.1159/000096152

By:

Caye-Thomasen, Per;
Dethloff, Thomas;
Hansen, Søren;
Stangerup, Sven-Eric;
Thomsen, Jens

Publication type:

Article

Speech perception in nucleus CI24M cochlear implant users with processor settings based on electrically evoked compound action potential thresholds.

Published in:

2002

By:

Smoorenburg, Guido F.;
Willeboer, Christina;
van Dijk, Johannes E.

Publication type:

journal article

Cutaneous-evoked tinnitus. I. Phenomenology, psychophysics and functional imaging.

Published in:

1999

By:

Cacace, A T;
Cousins, J P;
Parnes, S M;
Semenoff, D;
Holmes, T;
McFarland, D J;
Davenport, C;
Stegbauer, K;
Lovely, T J

Publication type:

journal article

The effects of amplitude modulation on acoustic reflex decay.

Published in:

1999

By:

Cook, Raymond D.;
Ferguson, Michael O.;
Hall III, Joseph W.;
Grose, John H.;
Pillsbury III, Harold C.;
Cook, R D;
Ferguson, M O;
Hall III, J W;
Grose, J H;
Pillsbury, H C 3rd

Publication type:

journal article

Drugs for hyperlipidaemia may slow down the progression of hearing loss in the elderly: A drug repurposing study.

Published in:

Basic & Clinical Pharmacology & Toxicology, 2019, v. 124, n. 4, p. 423, doi. 10.1111/bcpt.13150

By:

Choo, Oak‐Sung;
Yoon, Dukyong;
Choi, Young;
Jo, Soojung;
Jung, Ho‐Min;
An, Jun Young;
Choung, Yun‐Hoon

Publication type:

Article

Clinical Application of 3D-FIESTA Image in Patients with Unilateral Inner Ear Symptom.

Published in:

Korean Journal of Audiology, 2013, v. 17, n. 3, p. 111, doi. 10.7874/kja.2013.17.3.111

By:

Jae Ho Oh;
Jae Ho Chung;
Hyun Jung Min;
Seok Hyun Cho;
Chul Won Park;
Seung Hwan Lee

Publication type:

Article

Bilateral Sensorineural Hearing Loss and Polyneuropathy in a Patient with Sweet’s Syndrome.

Published in:

2015

By:

Cala, Cather M.;
Kole, Lauren;
Sami, Naveed

Publication type:

Case Study

Partial Recovery of Audiological, Vestibular, and Radiological Findings following Spontaneous Intralabyrinthine Haemorrhage.

Published in:

Case Reports in Otolaryngology, 2013, p. 1, doi. 10.1155/2013/941530

By:

Pézier, Thomas;
Baráth, Krisztina;
Hegemann, Stefan

Publication type:

Article

Systemic Steroid Application Caused Sudden Death of a Patient with Sudden Deafness.

Published in:

Case Reports in Otolaryngology, 2013, p. 1, doi. 10.1155/2013/734131

By:

Eriko Ogino-Nishimura;
Takayuki Nakagawa;
Ichiro Tateya;
Harukazu Hiraumi;
Juichi Ito

Publication type:

Article

Localized bilateral lymphoedema of the ear lobes secondary to mesothelioma.

Published in:

2009

By:

Gudi, V.;
Chan, S. K.;
Laroche, C.;
Ford, H. E. R.;
Darrah, R.;
Love, K.

Publication type:

Letter

Treatment of congenital cytomegalovirus beyond the neonatal period: an observational study.

Published in:

2020

By:

Dorfman, Lev;
Amir, Jacob;
Attias, Joseph;
Bilavsky, Efraim

Publication type:

journal article

The etiological evaluation of sensorineural hearing loss in children.

Published in:

2019

By:

van Beeck Calkoen, E. A.;
Engel, M. S. D.;
van de Kamp, J. M.;
Yntema, H. G.;
Goverts, S.T.;
Mulder, M.F.;
Merkus, P.;
Hensen, E. F.

Publication type:

journal article

Auditory neuropathy spectrum disorder (ANSD) in referrals from neonatal hearing screening at a well-baby clinic.

Published in:

2016

By:

Boudewyns, A.;
Declau, Frank;
Ende, Jenneke;
Hofkens, Anouk;
Dirckx, Sara;
Heyning, Paul;
van den Ende, Jenneke;
Van de Heyning, Paul

Publication type:

journal article

Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.

Published in:

2011

By:

Fallahi, Gholam Hossein;
Sabbaghian, Mozhgan;
Khalili, Manijeh;
Parvaneh, Nima;
Zenker, Martin;
Rezaei, Nima

Publication type:

journal article

Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.

Published in:

2008

By:

Banghova, Karolina;
Al Taji, Eva;
Cinek, Ondrej;
Novotna, Dana;
Pourova, Radka;
Zapletalova, Jirina;
Hnikova, Olga;
Lebl, Jan

Publication type:

journal 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