Browsing Health Sciences by Author "Kabahuma, Rosemary Ida"

Browsing Health Sciences by Author "Kabahuma, Rosemary Ida"

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  • The genetic basis of deafness in populations of African descent 
    Rudman, Jason R.; Kabahuma, Rosemary Ida; Bressler, Sara E.; Feng, Yong; Blanton, Susan H.; Yan, Denise; Liu, Xue-Zhong (Elsevier, 2017-06)
    Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction ...
  • Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents 
    Yan, Denise; Tekin, Demet; Bademci, Guney; Foster II, Joseph; Cengiz, F. Basak; Kannan‑Sundhari, Abhiraami; Guo, Shengru; Mittal, Rahul; Zou, Bing; Grati, Mhamed; Kabahuma, Rosemary Ida; Kameswaran, Mohan; Lasisi, Taye J.; Adedeji, Waheed A.; Lasisi, Akeem O.; Menendez, Ibis; Herrera, Marianna; Carranza, Claudia; Maroofian, Reza; Crosby, Andrew H.; Bensaid, Mariem; Masmoudi, Saber; Behnam, Mahdiyeh; Mojarrad, Majid; Feng, Yong; Duman, Duygu; Mawla, Alex M.; Nord, Alex S.; Blanton, Susan H.; Liu, Xue Z.; Tekin, Mustafa (Springer, 2016-08)
    Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is ...
  • Spectrum of MYO7A mutations in an indigenous South African population further elucidates the nonsyndromic autosomal recessive phenotype of DFNB2 to include both homozygous and compound heterozygous mutations 
    Kabahuma, Rosemary Ida; Schubert, Wolf-Dieter; Labuschagne, Christiaan; Yan, Denise; Blanton, Susan Halloran; Pepper, Michael Sean; Liu, Xue Zhong (MDPI, 2021-02-15)
    MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). MYO7A mutations are reported in nine DFNB2 ...