Search Results - "Petrin, A. N."

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene by Mersiyanova, Irina V., Perepelov, Alexander V., Polyakov, Alexander V., Sitnikov, Vladimir F., Dadali, Elena L., Oparin, Roman B., Petrin, Alexander N., Evgrafov, Oleg V.

“…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”…”
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Genetic epidemiological study of monogenic hereditary diseases in the Republic of Tatarstan: population dynamic factors determining the differentiation of the load of hereditary diseases in five districts by Ginter, E K, El'chinova, G I, Petrin, A N, Bessonova, L A, Kadyshev, V V, Gavrilina, S G, Vafina, Z I, Zinchenko, R A

“…A genetic epidemiological study has been performed in five districts of the Republic of Tatarstan, Russia: Arsky, Atninsky, Kukmorsky, Buinsky and…”
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Association of cytokine gene alleles with the inflammation of human periodontal tissue by Safonova, A V, Petrin, A N, Arutyunov, S D, Tsarev, V N, Akulenko, L A, Zorina, A O, Rebrikov, D V, Rubanovich, A V, Borinskaya, S A, Yankovsky, N K

“…Gingivitis and periodontitis are chronic inflammatory diseases of the periodontal tissue in humans caused by both environmental and genetic factors. The human…”
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MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic by Khidiyatova, I. M., Skachkova, I. A., Saifullina, E. V., Magzhanov, R. V., Schagina, O. A., Zinchenko, R. A., Petrin, A. N., Khusnutdinova, E. K.

“…Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 ( MFN2 ) gene and represents one of the most common…”
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Linkage of Polymorphic Congenital Cataract to the γ-Crystallin Gene Locus on Human Chromosome 2q33–35 by Rogaev, Evgeny I., Rogaeva, Ekaterina A., Korovaitseva, Galina I., Farrer, Lindsay A., Petrin, Alexander N., Keryanov, Sergey A., Turaeva, Shirine, Chumakov, Ilya, George-Hyslop, Peter St, Ginter, Eugeny K.

“…Cataract is one of the major causes of blindness in humans. We describe here an autosomal dominant polymorphic congenital cataract (PCC) which is characterised…”
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Marriage ethnic assortative mating of urban and rural population of Karachay-Cherkessia by El’chinova, G. I., Makaov, A. H. -M., Petrin, A. N., Zinchenko, R. A.

“…This paper presents analysis of 28879 marriage records from 1990–2000 (total sample). Ethnic marriage assortative mating is positive in all ethnic groups…”
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Russians of the Karachay-Cherkess Republic: Population Genetic Portrait by El’chinova, G. I., Makaov, A. H.-M., Bikanov, R. A., Petrin, A. N., Marakhonov, A. V., Kadyshev, V. V., Ginter, E. K., Zinchenko, R. A.

“…To describe the population-genetic structure of the Russian population of Karachay-Cherkessia, the database of Compulsory Medical Insurance and marriage…”
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Emery-Dreifuss syndrome: genetic and clinical varieties by Rudenskaya, G E, Ginter, E K, Petrin, A N, Djomina, N A

“…Two familial and 2 sporadic cases of Emery-Dreifuss syndrome are reported. One family presented a rare autosomal dominant variant of Emery-Dreifuss muscular…”
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MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic by Khidiyatova, I M, Skachkova, I A, Saifullina, E V, Magzhanov, R V, Schagina, O A, Zinchenko, R A, Petrin, A N, Khusnutdinova, E K

“…Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 (MFN2) gene and represents one of the most common axonal…”
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Genetic epidemiological study of monogenic hereditary diseases in the Republic of Tatarstan: Population dynamic factors determining the differentiation of the load of hereditary diseases in five districts by Ginter, E. K., El’chinova, G. I., Petrin, A. N., Bessonova, L. A., Kadishev, V. V., Havrilina, S. G., Vafina, Z. I., Zinchenko, R. A.

“…A genetic epidemiological study has been performed in five districts of the Republic of Tatarstan, Russia: Arsky, Atninsky, Kukmorsky, Buinsky and…”
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A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) by Vasilyev, G. S., Meshcheryakova, T. I., Lukash, E. N., Zhylina, S. S., Kanivets, I. V., Petrin, A. N.

“…The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of…”
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Hereditary spastic paraplegias: a comparative study of Russian populations by Rudenskaia, G E, Mamedova, R A, Petrin, A N, Galkina, V A

“…15 families (27 patients) with hereditary spastic paraplegia (HSP) were found in the course of monogenic disorders investigation in 6 Russian populations. High…”
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Genetic study of idiopathic torsion dystonia in Russia by Dadali, E L, Markova, E D, Petrin, A N, Ivanova-Smolenskaia, I A, Okuneva, E G

“…Inheritance of idiopathic torsion dystonia (ITD) was studied in 41 Russian families including 41 probands with generalized, focal, and segmental dystonia and…”
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Population genetics of spinal muscular atrophy by Rudenskaia, G E, Mamedova, R A, Petrin, A N, El'chinova, G I, Ginter, E K

“…A population genetic study of spinal amyotrophy (SMA) in six Russian and three Central Asian regions was carried out. In total, 29 patients with autosomal…”
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Population genetic study of hereditary motor and sensory neuropathy in the Kirov region by Rudenskaia, G E, Ginter, E K, Mamedova, R A, Petrin, A N, Poleshchuk, V V

“…All the cases of hereditary motor and sensory neuropathy (HMSN) in an eastern part of Kirov region (Russian north-east) were ascertained (N = 42 including 11…”
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Hereditary nervous system diseases in Mordovia by Petrin, A N, Perepelov, A V, Nurbaev, S D, Balanovskaia, E V, Sitnikov, V F, Inozemtseva, V S, Rudenskaia, G E

“…A medical genetic study on hereditary neural diseases was performed in 21 districts of the Mordovian Republic. The total number of persons examined was…”
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Correction for the estimated load of hereditary diseases in the population of the Krasnodarsk district by Galkina, V A, Petrin, A N, Golubtsov, V I

“…Medico-genetical examination of children from 6 invalid houses, 2 asylum houses, 3 internate schools and 1 house for deaf and feeble-hearing children as well…”
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Medical genetic study of the population of Kostroma Province. V. The hereditary pathology burden of urban and rural populations by Petrin, A N, Ginter, E K, Khisamova, M V

“…Medical genetic study was carried out in the urban and rural populations of Kostroma Province. Urban populations were shown to have lower frequencies of "rare"…”
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An attempt to locate the gene for congenital cataracts using linkage analysis by Ginter, E K, Petrin, A N, Spitsyn, V A, Rogaev, E I

“…Analysis of linkage between the gene of autosomal dominant congenital cataract and 10 polymorphic loci localized in 1, 2, 3, 4, 6, 13, 16 chromosomes was…”
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Genetic structure and the load of hereditary diseases in five populations of Arkhangel'skaia region by Mamedova, R A, El'chinova, G I, Startseva, E A, Kozlova, S I, Petrin, A N, Rudenskaia, G E, Khlenikova, O V, Mikhaĭlova, L K, Efimova, M N, Shchekotikhina, Iu A, Prokhorov, A Iu, Kadoshnikova, M Iu, Galkina, V A, Brusintseva, O V, Ginter, E K

“…A population and medical genetic investigation was performed in a number of raions in the Arkhangel' skaya oblast. Random inbreeding coefficients were 0.000358…”
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