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Publisher : biomed central Subject : genetic testing Subject : recessive genes

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Academic Journal

A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness.

Authors : Bardien S; Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa. ; Human H

Subjects: Mutation*; Aminoglycosides/Aminoglycosides/Aminoglycosides/*adverse effects ; Antitubercular Agents/Antitubercular Agents/Antitubercular Agents/*adverse effects

Source: BMC medical genetics [BMC Med Genet] 2009 Jan 13; Vol. 10, pp. 2. Date of Electronic Publication: 2009 Jan 13.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Academic Journal

First molecular screening of deafness in the Altai Republic population.

Authors : Posukh O; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia. ; Pallares-Ruiz N

Subjects: Genetic Testing*; Deafness/Deafness/Deafness/*genetics; Adolescent

Source: BMC medical genetics [BMC Med Genet] 2005 Mar 24; Vol. 6, pp. 12. Date of Electronic Publication: 2005 Mar 24.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Academic Journal

SNP genotyping to screen for a common deletion in CHARGE syndrome.

Authors : Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. ; Safiullah AM

Subjects: Chromosome Deletion*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Choanal Atresia/Choanal Atresia/Choanal Atresia/*genetics

Source: BMC medical genetics [BMC Med Genet] 2005 Feb 14; Vol. 6, pp. 8. Date of Electronic Publication: 2005 Feb 14.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Academic Journal

MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.

Authors : Zhang, Lang; Yang, Jin-Yuan; Wang, Qiu-Quan

Subjects: SENSORINEURAL hearing loss; RECESSIVE genes; CHINESE peopleEAST Asia; ASIA

Source: BMC Medical Genomics; 1/23/2024, Vol. 17 Issue 1, p1-10, 10p

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Academic Journal

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Authors : Tao Yang; Xiaoming Wei; Yongchuan Chai

Subjects: GENETICS of deafness; SENSORY disorders; DEAFNESS

Source: Orphanet Journal of Rare Diseases; 2013, Vol. 8 Issue 1, p1-8, 8p, 1 Diagram, 3 Charts, 1 Graph

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Academic Journal

Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.

Authors : Rayat, Sima; Farhadi, Mohammad; Emamdjomeh, Hessamaldin

Subjects: RECESSIVE genes; GENETIC mutation; MEDICAL genetics

Source: BMC Medical Genomics; 6/16/2022, Vol. 15 Issue 1, p1-10, 10p

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Academic Journal

Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation.

Authors : Yuhua Zhu¹ ; Shasha Huang¹ ; Dongyang Kang¹

Subjects: *DEAFNESS; *MITOCHONDRIAL RNA; *RIBOSOMAL RNA

Source: BMC Genetics. 2014, Vol. 15 Issue 1, p1-16. 16p.

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Academic Journal

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Authors : Wang, Mingming; Zhou, Yicui; Zhang, Fengguo

Subjects: HEARING disorders; RECESSIVE genes; GENETIC mutation

Source: BMC Medical Genetics; 7/25/2020, Vol. 21 Issue 1, p1-9, 9p

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Academic Journal

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

Authors : Joseph, Anne D. D.; Sirisena, Nirmala D.; Kumanan, Thirunavukarasu

Subjects: GENETICS of deafness; KIDNEY disease diagnosis; DIAGNOSIS of deafnessSRI Lanka

Source: BMC Endocrine Disorders; 10/28/2019, Vol. 19 Issue 1, pN.PAG-N.PAG, 1p, 1 Color Photograph, 2 Charts, 2 Graphs

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Academic Journal

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Authors : Yu, Xiaoyu; Lin, Yun; Xu, Jun

Subjects: RECESSIVE genes; MOLECULAR epidemiology; DEAFNESS

Source: Orphanet Journal of Rare Diseases; 1/28/2020, Vol. 15 Issue 1, p1-9, 9p

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