Results 231 to 240 of about 92,090 (322)

An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15. [PDF]

Case Rep Nephrol
Satariano M, Ghose S, Erzurum S, Sarac E.   +3 more
europepmc   +1 more source

Aetiology of bilateral sensorineural hearing impairment in children: a 10 year study. [PDF]

, 1996
Vijay Kumar Das
openalex   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics, Volume 108, Issue 5, Page 589-593, November 2025.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek   +11 more
wiley   +1 more source

IDIOPATHIC BILATERAL SENSORINEURAL HEARING LOSS

, 1993
Masatoshi Hirayama, Tetsuya Shitara, Makito Okamoto, Hajime Sano, Shiniti Furusawa   +4 more
openalex   +2 more sources

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

Clinical Genetics, Volume 108, Issue 5, Page 604-608, November 2025.
We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix, Patricia Dubot, Alexey V. Pshezhetsky, Philippe M. Campeau   +3 more
wiley   +1 more source

Clinical efficacy of vitamin D combined with conventional therapy for sudden sensorineural hearing loss in patients with vitamin D deficiency: a randomized controlled trial. [PDF]

Head Face Med
Shen X, Yang M, Tian J, Xie L, Feng N, Ma R.   +5 more
europepmc   +1 more source

Glycerol-loading Evoked Otoacoustic Emissions in the Patients with So-called Low-tone Sensorineural Hearing Loss-Preliminary Report.

, 1994
Yasuhiro Inoue, Jin Kanzaki, Toshiaki O‐Uchi, Shigemitu Yoshihara, Yasuo Satoh, Akira Ogata   +5 more
openalex   +2 more sources

Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock‐In Model for Human DFNX1 Deafness

Clinical Genetics, Volume 108, Issue 5, Page 566-575, November 2025.
Our mouse model with a c.259G>A transition in PRPS1 showed a significant decrease in the number of hair cells and SGN counts at 48 weeks of age and a reduction in Prps1 enzymatic activity in the KI mouse. This model will serve as a valuable tool for developing therapeutic strategies.
Denise Yan, M'hamed Grati, Rahul Mittal, Yi‐Zhou Quan, Wan Du, Zheng‐Yi Chen, Xue Zhong Liu   +6 more
wiley   +1 more source

Role of Lung Function, Chronic Obstructive Pulmonary Disease on Hearing Impairment: Evidence for Causal Effects and Clinical Implications. [PDF]

Audiol Res
Yuan L, Cui F, Yin G, Shi M, Aximu N, Tian Y, Sun Y.   +6 more
europepmc   +1 more source

A case of a child with bilateral sensorineural deafness showing inner ea5r malformation on CT.

, 1990
Toshimi Hasegawa
openalex   +2 more sources