Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Alexander N. Petrin"'
Autor:
Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin
Publikováno v:
Вопросы современной педиатрии, Vol 15, Iss 3, Pp 301-306 (2016)
The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3). This chromosomal abnormality is a result of segregation
Externí odkaz:
https://doaj.org/article/af6ea2c832f54742856c8f64ef950a01
Autor:
Tatiana V. Kozhanova, T.A. Vasilyeva, Alexander N. Petrin, Gennady R. Mutovin, Tatiana I. Meshcheryakova, Nika V. Petrova, Svetlana S. Zhylina, Maxim S. Belenikin, Rena A. Zinchenko, Andrey V. Marakhonov
Publikováno v:
Annals of Human Genetics. 79:148-152
Summary Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34b2176188bcb99aee6348350f3df069
https://doi.org/10.1111/ahg.12098
https://doi.org/10.1111/ahg.12098
Autor:
Tatiana I, Meshcheryakova, Rena A, Zinchenko, Tatiana A, Vasilyeva, Andrey V, Marakhonov, Svetlana S, Zhylina, Nika V, Petrova, Tatiana V, Kozhanova, Maxim S, Belenikin, Alexander N, Petrin, Gennady R, Mutovin
Publikováno v:
Annals of human genetics. 79(2)
Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associated with m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b8ed94c365d33fb52a4bba88775d23d6
https://pubmed.ncbi.nlm.nih.gov/25590586
https://pubmed.ncbi.nlm.nih.gov/25590586
Autor:
Vladimir F. Sitnikov, Irina V. Mersiyanova, Elena L. Dadali, Oleg Evgrafov, Alexander N. Petrin, Roman B. Oparin, Alexander V. Polyakov, Alexander V. Perepelov
Publikováno v:
The American Journal of Human Genetics. 67:37-46
Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. The axonal form of the disease is designated as “CMT type 2” (CMT2). Although four loci known to be implicated in autosomal dominant CMT2 have been mappe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e69ee6380ddb248338940a58167988a
https://doi.org/10.1086/302962
https://doi.org/10.1086/302962
Autor:
Peter St George-Hyslop, Alexander N. Petrin, Lindsay A. Farrer, Shirine Turaeva, G. I. Korovaitseva, Sergey A. Keryanov, Eugeny K. Ginter, Ekaterina Rogaeva, Evgeny I. Rogaev, Ilya Chumakov
Publikováno v:
Human Molecular Genetics. 5:699-703
Cataract is one of the major causes of blindness in humans. We describe here an autosomal dominant polymorphic congenital cataract (PCC) which is characterised by wide variations in phenotype of non-nuclear lens opacities, even among affected members
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d580a39b9e67731a63d5a5b58dfd4d73
https://doi.org/10.1093/hmg/5.5.699
https://doi.org/10.1093/hmg/5.5.699