Výsledky vyhledávání - "Oxana P. Ryzhkova"

Akademický článek

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss

Autor: Tatiana G. Markova, Natalia N. Alekseeva, Oxana P. Ryzhkova, Olga L. Shatokhina, Anna A. Orlova, Viktoriia V. Zabnenkova, Olga S. Groznova, Olesya V. Sagaydak, Svetlana S. Chibisova, Alexander V. Polyakov, George A. Tavartkiladze

Publikováno v: Journal of International Advanced Otology, Vol 20, Iss 2, Pp 119-126 (2024)

BACKGROUND: Autosomal dominant hearing loss is represented by a large number of genetically determined forms. Over 50 genes associated with dominant nonsyndromic hearing impairments were described. Pathogenic variants in the CEACAM16 gene lead to the

Externí odkaz: https://doaj.org/article/624002291141415b8d901c5708548814

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Previously Undescribed Gross

Autor: Valeriia A, Kovalskaia, Victoriia V, Zabnenkova, Marina S, Petukhova, Zhanna G, Markova, Vyacheslav Yu, Tabakov, Oxana P, Ryzhkova

Publikováno v: Genes. 13(12)

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM 616756) is a rare genetic disease caused by biallelic pathogenic variants in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::237a63b71854802d31b9884bece3b85e
https://pubmed.ncbi.nlm.nih.gov/36553453

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Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia

Autor: Valeriia A. Kovalskaia, Victoriia V. Zabnenkova, Marina S. Petukhova, Zhanna G. Markova, Vyacheslav Yu. Tabakov, Oxana P. Ryzhkova

Publikováno v: Genes; Volume 13; Issue 12; Pages: 2186

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM 616756) is a rare genetic disease caused by biallelic pathogenic variants in the HACE1 gene. Originally, these mutations have been reported to be implicated in tumor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142d985ff05ddba415cd4b33c0da325e
https://doi.org/10.3390/genes13122186

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