Results 171 to 180 of about 47,990 (266)

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Sensorineural deafness.3.Examination of idiopathic bilateral sensorineural deafness.

AUDIOLOGY JAPAN, 1995
openaire   +2 more sources

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy. [PDF]

Orphanet J Rare Dis
Roberts JP, Tang AF, Hernandez D, Carman B, Oiknine L, Brown C, Hurst S, Tang Y, Urano F.   +8 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Cochlear implant in type 2 neurofibromatosis: an option for better hearing rehabilitation Implante coclear em neurofibromatose tipo 2: uma opção para melhor reabilitação auditiva

Brazilian Journal of Otorhinolaryngology, 2011
Oswaldo Laércio M Cruz, Eduardo A. S Vellutini   +1 more
doaj   +1 more source

Association between Vitamin D Level and Sensorineural Hearing Loss in Adults: Systematic Review and Meta-Analysis. [PDF]

Food Sci Nutr
Mohmed AMA, Elawad TOM, Mohammed AAEA, MohamedSalih T, Elbadawi MH, Alslawy YMA.   +5 more
europepmc   +1 more source

Vocabulary and Functional Communication in Preschool‐Aged Children With Cochlear Implants

Brain and Behavior, Volume 16, Issue 8, August 2026.
Earlier cochlear implantation within the first 18 months of life is associated with superior functional communication and vocabulary outcomes in early childhood ABSTRACT Objective Early cochlear implantation is a critical factor influencing spoken language development in children with congenital hearing loss. Vocabulary acquisition, as a core component
Aysun Parlak Kocabay, Merve İkiz Bozsoy, Esra Yücel   +2 more
wiley   +1 more source

Assessment of Vestibular Function in Patients with Congenital Bilateral Sensorineural Hearing Loss: A Case-Control Study. [PDF]

J Clin Med
Piechocka M, Markowski J, Śpiewak P, Dobosz P, Kopeć-Gołdyn S, Piechocki M.   +5 more
europepmc   +1 more source

The Impact of the G8 Score on Survival Outcomes in Patients With Head and Neck Cancer Undergoing Concurrent Radiotherapy With Cetuximab due to Contraindications With Cisplatin

Cancer Medicine, Volume 15, Issue 8, August 2026.
ABSTRACT Purpose Patients unable to receive cisplatin due to age, comorbidities, or reduced performance status are commonly treated with concurrent radiotherapy (RT) and cetuximab. This study evaluated the prognostic significance of the Geriatric 8 (G8) score and the Charlson Comorbidity Index (CCI) in predicting survival outcomes in this population ...
Esin Kiraz, Mete Gündoğ, Rıdvan Gönül, İrfan Kara, İmdat Yüce, Sedat Çağlı   +5 more
wiley   +1 more source

Hypergonadotropic Hypogonadism, Progressive Early-Onset Spinocerebellar Ataxia, and Late-Onset Sensorineural Hearing Loss: Case Report and Literature Review

Balkan Journal of Medical Genetics, 2011
Sarikaya E, Ensert C, Gulerman H
doaj   +1 more source