Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maria Ampleeva"'
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
SHFM (Split Hand/Foot Malformation) is a heterogeneous group of disorders characterized by the presence of clefts in the hands and feet, along with syndactyly of the digits. In this article, we describe a family in which two members exhibit character
Externí odkaz:
https://doaj.org/article/9ad6a507a4344c4dba0f6b5b7b9e5d0f
Autor:
Tatiana Markova, Aysylu Murtazina, Vladimir Kenis, Evgenii Melchenko, Maria Ampleeva, Tatiana Nagornova, Aynur Alieva, Elena Dadali, Sergey Kutsev
Publikováno v:
International Journal of Translational Medicine, Vol 2, Iss 2, Pp 210-219 (2022)
Multiple epiphyseal dysplasia type 1 is one of the most common autosomal dominant types of the genetically heterogeneous group of skeletal dysplasias characterized by impaired ossification of the epiphyses of long bones. To date, it is known that the
Externí odkaz:
https://doaj.org/article/988fd30a361c4dac8155fde2d0d2df4e
Autor:
Margarita Sharova, Mikhail Skoblov, Elena Dadali, Nina Demina, Olga Shchagina, Fedor Konovalov, Maria Ampleeva, Inna Sharkova, Sergey Kutsev
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
We present a patient with unusual episodes of muscular weakness due to homozygous deletion of exon 2 in the MICU1 gene. Forty-three patients from 33 families were previously described with homozygous and compound heterozygous, predominantly loss of f
Externí odkaz:
https://doaj.org/article/3f2af9352416499c8061944c926ff67e
Autor:
N.L. Pechatnikova, Andrey V. Marakhonov, Maria Ampleeva, Ochir Migiaev, Alexandra Filatova, Ekaterina Zakharova, Ekaterina Pomerantseva, Mikhail Skoblov, Igor Bychkov, Galina Baydakova, Vladimir Kaimonov, F. A. Konovalov
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 10887, p 10887 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 19
International Journal of Molecular Sciences
Volume 22
Issue 19
Pompe disease (OMIM#232300) is an autosomal recessive lysosomal storage disorder caused by mutations in the GAA gene. According to public mutation databases, more than 679 pathogenic variants have been described in GAA, none of which are associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::268b490e9a08a960ea4b88923c668c7d
https://www.mdpi.com/1422-0067/22/19/10887
https://www.mdpi.com/1422-0067/22/19/10887
Autor:
Natalia Semenova, Andrey Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova
Publikováno v:
International Journal of Molecular Sciences. 23:15026
Hyperammonemia due to carbonic anhydrase VA deficiency (OMIM# 615751) is a rare, life-threatening hereditary disease caused by biallelic mutations in the CA5A gene, presenting as encephalopathic hyperammonemia of unexplained origin during the neonata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ef6b20be4ac2d285fd1adde3873c5ff
https://doi.org/10.3390/ijms232315026
https://doi.org/10.3390/ijms232315026