Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anna Nogovicina"'
Autor:
Leonid Zhozhikov, Aitalina Sukhomyasova, Elizaveta Gurinova, Anna Nogovicina, Filipp Vasilev, Nadezhda Maksimova
Publikováno v:
Clinical Genetics. 103:625-635
Autor:
Tomoaki Usui, Hiroshi Fujiwara, Anna Nogovicina, Aitalina Sukhomyasova, Kenju Hara, Hitoshi Takahashi, Yasushi Nishihira, Akinori Miyashita, Mineo Takagi, Masatoyo Nishizawa, Svetlana Potapova, Ryozo Kuwano, Tan Chun-Feng, Irina Nikolaeva, Osamu Onodera, N. R. Maksimova, Tokuhide Oyama
Publikováno v:
Journal of Medical Genetics
Background Hereditary short stature syndromes are clinically and genetically heterogeneous disorders and the cause have not been fully identified. Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have
Autor:
Hidehito Kondo, Yusuke Hamada, Aitalina Sukhomyasova, E. E. Gurinova, Kaori Kobayashi, Akihiro Nakaya, Anna Nogovicina, Hisakazu Kato, N. R. Maksimova, Satoshi Nojima, Takanobu Otomo, Mira T Savvina, Keiichi Ozono, Norio Sakai, Yoshihiro Asano, Atsuko Imai, Kaori Irahara, Tamotsu Yoshimori
Publikováno v:
Human Molecular Genetics. :ddw377
Mucopolysaccharidoses (MPS) are a group of genetic deficiencies of lysosomal enzymes that catabolize glycosaminoglycans (GAG). Here we describe a novel MPS-like disease caused by a specific mutation in the VPS33A gene. We identified several Yakut pat
Autor:
N. R. Maksimova, Anna Nogovicina, Masatoyo Nishizawa, A Miyashia, Osamu Onodera, I A Nikolaeva, V Argunov, Aitalina Sukhomyasova, Kenju Hara, Takeshi Ikeuchi, A Shvedova, Ryozo Kuwano, Atsushi Shiga
Background: In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified. Methods: Beca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ada8850df7338c8c0d10e320c82cef5
https://europepmc.org/articles/PMC2652813/
https://europepmc.org/articles/PMC2652813/