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Academic Journal

New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.

  • Authors : Stanghellini I; 1 Medical Genetics Unit, Department of Mother & Child, University Hospital of Modena , Modena, Italy .; Genovese E

Subjects: Alleles* ; Gene Frequency* ; Hearing Loss, Sensorineural*/Hearing Loss, Sensorineural*/Hearing Loss, Sensorineural*/genetics

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2014 Dec; Vol. 18 (12), pp. 839-44.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited

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Academic Journal

Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.

  • Authors : Tlili A; 1 Department of Applied Biology, College of Sciences, University of Sharjah , Sharjah, United Arab Emirates .; 2 Human Genetics and Stem Cell Laboratory, Research Institute of Sciences and Engineering, University of Sharjah , Sharjah, United Arab Emirates .

Subjects: Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*genetics; Adult Nonsyndromic Deafness

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2017 Nov; Vol. 21 (11), pp. 686-691. Date of Electronic Publication: 2017 Oct 10.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic

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Academic Journal

Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions.

  • Authors : Oliveira CA; Centro de Biologia Molecular e Engenharia Genética/ CBMEG, Laboratório de Genética Humana, Saã Paulo, Brazil.; Pimpinati CJ

Subjects: Alleles* ; Gene Frequency* ; Mutation*

  • Source: Genetic testing [Genet Test] 2007 Spring; Vol. 11 (1), pp. 1-3.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

The M34T allele variant of connexin 26.

  • Authors : Cucci RA; Department of Otolaryngology, Head and Neck Surgery, Iowa City, IA 52242, USA.; Prasad S

Subjects: Alleles*; Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*genetics

  • Source: Genetic testing [Genet Test] 2000; Vol. 4 (4), pp. 335-44.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.

  • Authors : Zhao FF; Department of Otorhinolaryngology/Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, China.; Ji YB

Subjects: Genetic Association Studies* ; Mutation*/Mutation*/Mutation*/physiology; Asian People/Asian People/Asian People/*genetics Nonsyndromic sensorineural hearing loss

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2011 Sep; Vol. 15 (9), pp. 619-25. Date of Electronic Publication: 2011 Apr 13.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic

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Academic Journal

The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases.

  • Authors : Matos TD; Faculty of Science, Centre for Biodiversity, Functional, and Integrative Genomics (BioFIG), University of Lisbon, Lisbon, Portugal.; Simões-Teixeira H

Subjects: Mutation, Missense*; Connexins/Connexins/Connexins/*genetics ; Hearing Loss/Hearing Loss/Hearing Loss/*genetics

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2010 Feb; Vol. 14 (1), pp. 141-4.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited

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Academic Journal

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.

  • Authors : Primignani P; Laboratorio di Genetica Medica, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena-Milano, Milan, Italy. ; Trotta L

Subjects: Genotype* ; Mutation*; Connexins/Connexins/Connexins/*genetics

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2009 Apr; Vol. 13 (2), pp. 209-17.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited

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Academic Journal

Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.

  • Authors : Utrera R; Departamento de Biología Celular, Universidad Simón Bolívar, Caracas, Venezuela 1081-A. ; Ridaura V

Subjects: Genes, Recessive* ; Sequence Deletion*; Connexins/Connexins/Connexins/*genetics

  • Source: Genetic testing [Genet Test] 2007 Winter; Vol. 11 (4), pp. 347-52.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.

Subjects: Mutation*; Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*genetics

  • Source: Genetic testing [Genet Test] 2001 Summer; Vol. 5 (2), pp. 147-8.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

Meta-analysis of GJB2 mutation 35delG frequencies in Europe.

  • Authors : Lucotte G; International Institute of Anthropology, Paris, France. ; Mercier G

Subjects: Sequence Deletion*; Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*genetics

  • Source: Genetic testing [Genet Test] 2001 Summer; Vol. 5 (2), pp. 149-52.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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  • 1-10 of  10 results for ""Alleles""