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Laminopathies in Russian families
Mutations in LMNA gene produce a wide spectrum of disorders called laminopathies. In this article, the first cases of laminopathies from Russia are reported. In 10 unrelated families, 9 differentExpand
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[Molecular genetic diagnosis of Stargardt disease].
AIM To comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallelExpand
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[Morphological changes in retina and optic nerve head in patients with Leber's hereditary optic neuropathy].
OBJECTIVE To study morphological changes of the macula and the peripapillary nerve fiber layer in patients with Leber's hereditary optic neuropathy (LHON). MATERIAL AND METHODS A total of 21Expand
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Types of Y chromosome deletions and their frequency in infertile men
Y chromosome deletions in the AZF locus were analyzed during a large-scale andrological and genetic examination of 810 infertile men. The search for Yq microdeletions was carried out according to theExpand
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[Stargardt's disease and abiotrophy of Franceschetti (fundus flavimaculatus): pathogenetic, clinical, and molecular genetic characteristics].
The article presents a review of literature on Stargardt's disease and abiotrophy of Franceschetti. Etiopathogenetic, clinical and molecular genetic characteristics are covered. Clinical and geneticExpand
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Unique mosaic X/Y translocation/insertion in infant 45,X male
We report on a 45,X male with hydrocephaly, lobar holoprosencephaly and ichthyosis. In situ hybridization and molecular analysis have demonstrated the presence of a mosaic SRY‐bearing derivative XExpand
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[Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].
A search for emerin and lamin A/C (LMNA) mutations was performed in a group of 63 unrelated patients with probable Emery-Dreifuss muscular dystrophy (EDMD) and other MD's with concomitant dilatedExpand
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A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family
SPG61 (OMIM: 615685) is an extremely rare form of complicated hereditary spastic paraplegia [1,2]. To date, only one family with SPG61 has been reported [3]. Here, we describe the second SPG61 caseExpand
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[Modern opportunities and prospects for studying pathogenesis, diagnosing and treating hereditary optic neuropathies].
OBJECTIVE To evaluate modern opportunities and prospects for studying pathogenesis and improving diagnostics and treatment of hereditary optic neuropathies (HON). MATERIAL AND METHODS The articleExpand
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Molecular analysis of the Y chromosome in XX sex-reversed patients
Molecular genetic analysis was performed for 26 phenotypically male patients lacking the Y chromosome in the karyotype. The sex-determining region Y (SRY) gene was found in 77% of the patients. PCRExpand
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