Zobrazeno 1 - 5
of 5
pro vyhledávání: '"N V, Rumiantseva"'
Autor:
T V, Asadchuk, N V, Rumiantseva, I V, Naumchik, S A, Likhachev, I V, Pleshko, L V, Shalkevich, I V, Jevneronok, J P, Kachan
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 116(1)
To analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2. and present the principles of diagnosis and genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e39def5a50fbd08912d5e74181969132
https://pubmed.ncbi.nlm.nih.gov/26977628
https://pubmed.ncbi.nlm.nih.gov/26977628
Autor:
I. V. Pleshko, J. P. Kachan, I. V. Jevneronok, I. V. Naumchik, S. A. Likhachev, L. V. Shalkevich, T. V. Asadchuk, N. V. Rumiantseva
Publikováno v:
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 116:64
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b568c9f051da44d2b422842e5cddc8f
https://doi.org/10.17116/jnevro20161161164-69
https://doi.org/10.17116/jnevro20161161164-69
Autor:
I V, Lur'e, N V, Rumiantseva, L V, Podleshchuk, S I, Kozlova, V D, Kulak, I V, Naumchik, L B, Gorelik, T V, Zolotukhina, M I, Kuznetsov
Publikováno v:
Genetika. 28(10)
Seven families with translocations t(11; 22) identified at our Institute and analysis of the literature showed that the imbalance resulted from such translocations is always due to nondisjunction 3:1. Nondisjunction occurs more often in the 1st meiot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5aba75c91df96dd0928222d0b85984bb
https://pubmed.ncbi.nlm.nih.gov/1468637
https://pubmed.ncbi.nlm.nih.gov/1468637
Publikováno v:
Genetika. 22(6)
The family, where 2 children had partial trisomy 2q33-q ter, due to paternal translocation t(2;18) (q33;p11.1), was examined. The analysis of 36 cases of trisomy 2q showed that the forms connected with parental chromosomal rearrangement prevailed in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::53feb5e4c98bdfcdb898e860b8a48103
https://pubmed.ncbi.nlm.nih.gov/3732802
https://pubmed.ncbi.nlm.nih.gov/3732802
Publikováno v:
Genetika. 25(12)
Clinical genetic analysis of distal trisomies 1q, based on the study of a t(1; 6) (q42.1; p24) family and the literature data, was performed. It was demonstrated that phenotypical manifestations of the trisomy are formed by nonspecific anomalies, due
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9eedc096b8b14a72e38309e72c3d0f24
https://pubmed.ncbi.nlm.nih.gov/2634579
https://pubmed.ncbi.nlm.nih.gov/2634579