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Publication : clinical genetics Subject : genetic testing Subject : molecular genetics
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Academic Journal

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

  • Authors : Hutchin T; Molecular Medicine Unit, St James's University Hospital, University of Leeds, UK. ; Coy NN

Subjects: Genetic Predisposition to Disease*; Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*epidemiology

  • Source: Clinical genetics [Clin Genet] 2005 Dec; Vol. 68 (6), pp. 506-12.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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Academic Journal

Whole‐exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients.

Subjects: GENETIC testing; NUCLEOTIDE sequencing; DEAFNESS

  • Source: Clinical Genetics; Feb2020, Vol. 97 Issue 2, p352-356, 5p, 1 Chart

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Academic Journal

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Subjects: GENETICS of deafness; GENETIC mutation; MOLECULAR genetics

  • Source: Clinical Genetics; Mar2012, Vol. 81 Issue 3, p289-293, 5p, 1 Diagram, 1 Graph

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Academic Journal

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

  • Authors : Gu X; Department of Otolaryngology, Hearing Research Institute, Affiliated Eye and ENT Hospital, Fudan University, Shanghai, China.; Guo L

Subjects: Genetic Testing* ; High-Throughput Nucleotide Sequencing* ; Mutation*

  • Source: Clinical genetics [Clin Genet] 2015 Jun; Vol. 87 (6), pp. 588-93. Date of Electronic Publication: 2014 Aug 07.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

Subjects: GENOMICS; NUCLEOTIDE sequencing; GENETIC testingCAMEROON

  • Source: Clinical Genetics; Sep2016, Vol. 90 Issue 3, p288-290, 3p

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Academic Journal

The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects.

  • Authors : Fitzgerald T; New York State Department of Health, Wadsworth Center, Albany, NY 12201, USA. ; Duva S

Subjects: Mutation*; Connexins/Connexins/Connexins/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Clinical genetics [Clin Genet] 2004 Apr; Vol. 65 (4), pp. 338-42.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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Academic Journal

Comprehensive genetic testing can save lives in hereditary hearing loss.

Subjects: GENETIC testing; JERVELL-Lange Nielsen syndrome; RISK of deafness

  • Source: Clinical Genetics; Feb2015, Vol. 87 Issue 2, p190-191, 2p

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Academic Journal

Parental request for familial carrier testing in early childhood: The genetic counseling perspective.

  • Authors : Southwick SV; Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Obstetrics and Gynecology, Johns Hopkins University, Baltimore, Maryland, USA.

Subjects: Genetic Counseling* ; Genetic Testing*; Adolescent

  • Source: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 262-272. Date of Electronic Publication: 2023 Nov 23.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

The molecular genetics of Usher syndrome.

Subjects: USHER'S syndrome; MOLECULAR genetics; RETINITIS pigmentosa

  • Source: Clinical Genetics; Jun2003, Vol. 63 Issue 6, p431-444, 14p

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Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.

Subjects: Genetic Testing* ; Membrane Transport Proteins*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics

  • Source: Clinical genetics [Clin Genet] 2003 Oct; Vol. 64 (4), pp. 371-4.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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  • 1-10 of  61 results for ""Deafness""