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| Issue |
Title |
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| Vol 23, No 12 (2024) |
Familial case of intragenic microduplication of the MBD5 (2q23.1) |
Abstract
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D. A. Fedotov, A. A. Kashevarova, M. E. Lopatkina, E. A. Sazhenova, T. V. Nikitina, G. V. Drozdov, O. A. Salukova, E. G. Ravzhaeva, L. I. Minaycheva, G. N. Seitova, I. N. Lebedev |
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| Vol 23, No 12 (2024) |
A clinical case of rare mucopolysaccharidosis type IIIC |
Abstract
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E. A. Fonova, O. A. Salukova, N. A. Skryabin, G. N. Seitova, L. P. Nazarenko |
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| Vol 23, No 10 (2024) |
The importance of genetic counseling within planning of pregnancy by a patient with cystinuria and reproductive dysfunction |
Abstract
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M. M. Litvinova M.M., T. V. Filippova, A. P. Gudkova, M. A. Karnaushkina, L. A. Tsapkova, T. I. Subbotina, N. V. Chebotareva |
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| Vol 23, No 8 (2024) |
The case of trismus-pseudocamptodactyly syndrome due to rare variant in MYH8 gene |
Abstract
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A. A. Gusina, M. I. Kolybenko, A. O. Kozorez, J. Z. Nikolayeva |
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| Vol 23, No 3 (2024) |
Hereditary angioedema caused by a new mutation of the SERPING1 gene (case report) |
Abstract
PDF (Rus)
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M. G. Baysheva, A. A. Dyachkova, O. V. Khlopenkova |
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| Vol 23, No 1 (2024) |
Study of a rare variant of the CFTR c.1329_1350del gene in a homozygous state in a child with cystic fibrosis using functional tests |
Abstract
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E. I. Kondratyeva, M. G. Krasnova, Yu. L. Melyanovskaya, V. D. Sherman, D. O. Mokrousova, A. S. Efremova, N. V. Bulatenko, T. B. Bukharova, D. V. Goldshtein |
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| Vol 22, No 12 (2023) |
Familial case of hereditary transthyretin amyloidosis with polyneuropathy (ATTR amyloidosis) |
Abstract
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P. D. Lashevich, S. A. Matulevich |
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| Vol 22, No 11 (2023) |
An ultra-rare form of fatty acid metabolism disorder in adults: a case report |
Abstract
PDF (Rus)
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V. N. Serebrennikov, V. I. Baksheev, K. V. Serebrennikova, A. A. Prokhorchik, G. V. Baydakova, P. V. Baranova, E. Yu. Zakharova |
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| Vol 22, No 9 (2023) |
Hyperhomocysteinemia as a risk factor for cerebral vascular thrombosis in a child with a traumatic brain injury. Clinical observation |
Abstract
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S. V. Kotov, O. P. Sidorova, A. S. Kotov, E. V. Proskurina, O. A. Solovova |
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| Vol 22, No 9 (2023) |
The combination of spinocerebellar ataxia and motor neuron disease associated with SOD1 gene mutation |
Abstract
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E. P. Nuzhnyi, I. V. Minaev, A. O. Protopopova, N. Y. Abramycheva, E. Y. Fedotova, S. N. Illarioshkin |
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| Vol 22, No 8 (2023) |
Clinical and molecular cytogenetic characteristics of the unique pseudotricentric X chromosome |
Abstract
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Zh. G. Markova, M. E. Minzhenkova, F. M. Bostanova, N. V. Shilova |
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| Vol 22, No 8 (2023) |
Genesis of multiple tumors in a patient with a primary endometral adenocarcinoma |
Abstract
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E. D. Mirlina, A. D. Shakhmatova, D. N. Khmelkova, Yu. V. Kil, S. S. Emelyanova, G. M. Butrovich, E. Y. Grinkova, I. V. Mironova, V. S. Kaimonov, I. L. Polyatskin, A. S. Artemyeva, A. V. Gulyaev, O. A. Vostrukhina, V. N. Verbenko |
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| Vol 22, No 6 (2023) |
Cutaneous skeletal hypophosphatemia syndrome: the first clinical description of two cases with genetic verification in Russia |
Abstract
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K. S. Kulikova, E. N. Raikina, E. R. Tolmacheva, E. A. Pomerantseva |
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| Vol 22, No 4 (2023) |
Clinical case of the maple syrup urine disease in the neonate |
Abstract
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O. V. Bugun, N. N. Martynovich, G. P. Bogonosova, T. A. Astahova, L. V. Rychkova, D. M. Barycova, S. N. Kuznetcova, E. G. Osipova, T. Y. Dorofeeva, Y. V. Mihelsone |
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| Vol 22, No 1 (2023) |
Differential diagnosis of the causes of respiratory failure in children with achondroplasia. Clinical analysis |
Abstract
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E. A. Balakireva, A. A. Ulez’ko, I. V. Nikolaenko, S. R. Pletenskaya |
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| Vol 22, No 1 (2023) |
Wolf-Hirschhorn syndrome: review of three clinical cases |
Abstract
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E. I. Kosinova, Т. I. Zubtsova, O. B. Polshvedkina, Yu. G. Kolesnikova |
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| Vol 20, No 9 (2021) |
Preimplantation genetic testing for mucopolysaccharidosis type II: a case report |
Abstract
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E. V. Soloveva, L. I. Minaycheva, M. M. Skleimova, A. O. Fomin, E. V. Broitman, E. M. Bakulina, S. V. Zotov, Y. S. Yakovleva, D. I. Zhigalina, O. R. Kanbekova, G. N. Seitova |
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| Vol 21, No 2 (2022) |
Ververi-Brady syndrome associated with QRICH1 variants (clinical cases) |
Abstract
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T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, L. M. Sushko, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko, N. N. Zavadenko |
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| Vol 21, No 2 (2022) |
Two patients with DSD associated with unique mosaicism and psu dic(Y;22) |
Abstract
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N. V. Oparina, N. Y. Raygorodskaya, O. Yu. Latyshev, Yu. M. Zinovyeva, I. I. Romanova, M. V. Kibanov, V. B. Chernykh |
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| Vol 21, No 4 (2022) |
Xq13.3-q21.1 microduplication in a female fetus: a case report |
Abstract
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K. A. Svirepova, M. V. Kuznetsova, N. A. Karetnikova, D. Yu. Trofimov |
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| Vol 21, No 10 (2022) |
Familial case of ataxia-telangiectasia |
Abstract
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L. I. Minaycheva, L. P. Nazarenko, E. G. Ravzhaeva, G. N. Seitova |
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| Vol 21, No 10 (2022) |
Clinical case of congenital Sucrase-isomaltase deficiency |
Abstract
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A. I. Pobedinskaya |
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| Vol 21, No 10 (2022) |
Preimplantation genetic testing for mucopolysaccharidosis type II: a case report |
Abstract
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E. V. Soloveva, M. M. Skleimova, L. I. Minaycheva, D. I. Zhigalina, E. O. Churkin, Y. V. Okkel |
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| Vol 21, No 5 (2022) |
Clinical case of tyrosinemia type I in the newborn |
Abstract
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S. V. Cherkasova |
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| Vol 18, No 5 (2019) |
Homozygous mutation p. Arg375X as the cause of mucolipidosis II alfa/beta: analysis of two cases |
Abstract
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A. A. Gusina, N. B. Gusina, V. D. Kulak, I. V. Naumchik, N. V. Rumiantsava, A. S. Budzeika, K. A. Krinickaja, A. S. Stalybko |
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| Vol 18, No 5 (2019) |
New case of Baraitzer-Winter Cerebrofrontofacial syndrome due to p.Ile136Val mutation in ACTB gene |
Abstract
PDF (Rus)
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A. A. Gusina, S. L. Kulikova, V. D. Kulak, N. B. Gusina |
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| Vol 18, No 6 (2019) |
A new allelic variant of periventricular nodular heterotopia type 7 in a patient with adrenogenital syndrome due to a 21-hydroxylase deficiency |
Abstract
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E. L. Dadali, T. V. Markova, A. O. Borovikov, A. L. Chukhrova, N. N. Wasserman, O. A. Schagina |
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| Vol 18, No 11 (2019) |
Family case of mosaic variant of Turner syndrome with ring X chromosome |
Abstract
PDF (Rus)
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N. V. Oparina, O. A. Solovova, S. G. Kalinenkova, A. Sh. Latypov, E. A. Bliznets, A. A. Stepanova, V. B. Chernykh |
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| Vol 18, No 12 (2019) |
The case of multiple osteohondromas in Yakut family (Eastern Siberia, Russia) caused by rare mutation in the EXT2 gene |
Abstract
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A. E. Yakovleva, D. A. Petukhova, P. I. Golikova, E. E. Gurinova, A. L. Danilova, A. L. Sukhomyasova, N. R. Maksimova |
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| Vol 19, No 10 (2020) |
A case of a small supernumerary ring chromosome r(20)(p12q12) in a 3-year-old boy with facial anomalies and speech delay |
Abstract
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V. G. Antonenko, D. V. Svetlychnaya, M. E. Minzhenkova, N. V. Shilova, S. G. Kalinenkova |
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| Vol 20, No 4 (2021) |
A case of deletion 8q22.2q22.3 in a child with de novo balanced translocation t(1;6) |
Abstract
PDF (Rus)
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M. E. Minzhenkova, Z. G. Markova, I. V. Anisimova, I. V. Kanivetc, N. V. Shilova |
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| Vol 20, No 6 (2021) |
An unusual combined chromosomal rearrangement in a newborn with multiple congenital malformations due to a balanced parental translocation |
Abstract
PDF (Rus)
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A. G. Novikova, N. V. Oparina, V. G. Antonenko, M. V. Kubrina, Y. Y. Kotalevskaya, S. G. Kalinenkova, A. S. Latypov |
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