Výsledky vyhledávání - "Nikolay V. Zernov"

FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach

Autor: Mikhail Yurevich Skoblov, A. A. Gus’kova, Nikolay V. Zernov

Publikováno v: Diagnostics, Vol 11, Iss 982, p 982 (2021)
Diagnostics
Volume 11
Issue 6

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant myodystrophy. Approximately 95% of cases of FSHD are caused by partial deletion of the D4Z4 macrosatellite tandem repeats on chromosome 4q35. The existing FSHD1 diagnostic methods are labo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec05c2fe03de85f65440483e721a9081
https://www.mdpi.com/2075-4418/11/6/982

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Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum

Autor: Nikolay V. Zernov, Mikhail Skoblov, Elena L. Dadali, Vyacheslav Tabakov, Andrey V. Marakhonov, Inna V. Sharkova

Publikováno v: Gene. 672:165-171

Here we present a case report of collagen VI related myopathy in a patient, 8 y.o. boy, with intermediate phenotype between severe Ullrich congenital muscular dystrophy and milder Bethlem myopathy. Whole exome sequencing revealed two novel single nuc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb2b3e2cb630ebf81ef1d7db16d953dc
https://doi.org/10.1016/j.gene.2018.06.026

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Clinical and genetic characteristics and diagnostic features of Landouzy–Dejerine facioscapulohumeral muscular dystrophy

Autor: J. V. Vyakhireva, M. Yu. Skoblov, A. A. Gus’kova, Elena L. Dadali, Andrey V. Marakhonov, Nikolay V. Zernov

Publikováno v: Russian Journal of Genetics. 53:640-650

Landouzy–Dejerine facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary myodystrophies. A study of the genetic nature of the disease, which has an autosomal dominant mode of inheritance, is extremely interesting and rev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0960f9f5c43f7dd959b42c32cda69d40
https://doi.org/10.1134/s102279541706014x

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Genotype-phenotype correlations in FSHD

Autor: Mikhail Skoblov, Nikolay V. Zernov

Publikováno v: BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss S2, Pp 79-85 (2019)

Background Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c59bd439eeb077a33253c927336b3f0
http://europepmc.org/articles/PMC6416831

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[Clinical and genetic characteristics of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1]

Autor: G. E. Rudenskaya, Inna V. Sharkova, M. Yu. Skoblov, Elena L. Dadali, Nikolay V. Zernov

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 117(11)

To describe clinical and genetic characteristics of patients from the Russian population with a variety of phenotypic variants of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1 (FSHD 1).The material for the study were blood samples o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75314e173ea23471d42cb1a0757f2f0f
https://pubmed.ncbi.nlm.nih.gov/29265097

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Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes

Autor: Ancha Baranova, Nikolay V. Zernov, Mikhail Skoblov, Konstantin Boyarsky

Publikováno v: Reproductive Biology and Endocrinology : RB&E

Background Anomalous levels of gonadotropin-releasing hormone (GnRH) secretion result in a variety of reproductive phenotypes associated with infertility or subfertility. The normosmic isolated hypogonadotropic hypogonadism (nIHH) is due to a failure

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dcd7c88e8d8783ed7d917393749b879
http://europepmc.org/articles/PMC4992333

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Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

Autor: Nikolay V. Zernov, Yutaka Shimomura, Andrey V. Marakhonov, Rena A. Zinchenko, Mikhail Skoblov, Anna V. Abrukova, Tatyana A. Vasilyeva, F. A. Konovalov

Publikováno v: The Journal of investigative dermatology. 136(6)

Hypotrichosis is an abnormal condition characterized by decreased hair density and various defects in hair structure and growth patterns. In particular, in woolly hair, hypotrichosis is characterized by a tightly curled structure and abnormal growth.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7c4f556aaea87df81834d1506e89c7
https://pubmed.ncbi.nlm.nih.gov/26902920

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