Search Results

A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed.

• Authors : Webb, Aubrey A.; Ruhe, Alison L.; Neff, Mark W.

Subjects: DEAFNESS; MISSENSE mutation; GENETIC mutation

• Source: Canadian Journal of Veterinary Research / Revue Canadienne de Recherche Vétérinaire; Apr2019, Vol. 83 Issue 2, p142-148, 7p

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Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease.

• Authors : Durmazer, Esra; Demir, Meryem; Onay, Huseyin

Subjects: DORFMAN-Chanarin syndrome; MALOCCLUSION; FATTY liver

• Source: Journal of Clinical Lipidology; Jan2024, Vol. 18 Issue 1, pe125-e128, 4p

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Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.

• Authors : Sokolov, Meirav; Brownstein, Zippora; Frydman, Moshe

Subjects: GENETICS of deafness; DEAFNESS; FAMILY health

• Source: Journal of Basic & Clinical Physiology & Pharmacology; Sep2014, Vol. 25 Issue 3, p289-292, 4p

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Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.

• Authors : Pelosini, Caterina; Martinelli, Silvia; Ceccarini, Giovanni

Subjects: LIPODYSTROPHY; GENETIC mutation; POLYMERASES

• Source: Metabolism: Clinical & Experimental; Nov2014, Vol. 63 Issue 11, p1385-1389, 5p

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Mutations in PMCA2 and hereditary deafness: A molecular analysis of the pump defect.

• Authors : Giacomello, Marta; De Mario, Agnese; Lopreiato, Raffaele

Subjects: GENETICS of deafness; GENETIC mutation; MOLECULAR genetics

• Source: Cell Calcium; Dec2011, Vol. 50 Issue 6, p569-576, 8p

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Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid.

• Authors : Coco, Manuela; Salvinelli, Fabrizio; Greco, Fabio

Subjects: GENETICS of deafness; GENETIC mutation; GENES

• Source: Journal of Prenatal Medicine; 2013, Vol. 7 Issue 4, p56-58, 3p

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Frecuencia de la mutación p.Q829X del gen otoferlina (OTOF) en población colombiana con sordera no sindrómica.

• Authors : Ortiz, Lisbeth Morales; Moyano, Nancy Gelvez; Urrego, Luisa Fernanda

• Source: Universitas Médica; abr-jun2012, Vol. 53 Issue 2, p144-153, 10p

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Empowering deaf and hard hearing females toward premarital counseling and genetic screening: An educational intervention based on empowerment model.

• Authors : Zaien, Sahar Z.; El Sayed, Hanan A.; Ibrahim, Heba A.

Subjects: EDUCATION of people with disabilities; MARRIAGE; DEAFNESSSAUDI Arabia

• Source: African Journal of Reproductive Health; 2021 Special Issue, Vol. 25 Issue 1S, p36-49, 14p

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Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

• Authors : Sai Prasad; Karen A. Kölln; Robert A. Cucci

Subjects: GENETIC mutation; HEARING disorders; DEAFNESS

• Source: American Journal of Medical Genetics; 2004, Vol. 124 Issue 1, p1-9, 9p

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HARBOYAN SYNDROME.

• Authors : DISOGRA, ROBERT M.; GUNTON, KAMMI B.

Subjects: DISEASE management; CRANIOFACIAL abnormalities; AGE factors in disease

• Source: Audiology Today; Mar/Apr2012, Vol. 24 Issue 2, p56-65, 10p

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