Molecular (cytogenetic diagnosis of Prader-Willi syndrome)-Reference-Cited by-同舟云学术

Molecular (cytogenetic diagnosis of Prader-Willi syndrome)

Published:2023-04-10 Issue: Volume: Page:
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Author:

Zaletaev Dmitriy,Shilova Nadezhda,Musatova Viktoriya,Min'zhenkova Marina,Markova Zhanna,Kucev Sergey

Abstract

This teaching aid is devoted to the theoretical and practical aspects of the genetic diagnosis of Prader-Willi syndrome and is compiled in accordance with the Federal State Educational Standard of Higher Education in the specialties 08/31/30 "genetics", 05/31/02 "pediatrics", 08/31/06 "laboratory genetics", 08/31/53 "endocrinology", 08.31.42 "neurology", 08.31.05 "clinical laboratory diagnostics" and the work programs of the Department of Medical Genetics of the IViDPO FGBNU "MGNTS", as well as taking into account the professional standards of doctors of the above specialties; scientific specialties 1.5.7. "genetics", 3.3.8. "clinical laboratory diagnostics", 3.1.21 "pediatrics", 3.1.19. "endocrinology" and 3.1.24. "neurology" in the preparation of scientific and pedagogical staff in graduate school. The manual is intended for residents in the above specialties, graduate students in scientific specialties 1.5.7. "genetics", 3.1.21 "pediatrics", 3.3.8. "clinical laboratory diagnostics", 3.1.19. "endocrinology" and 3.1.24. "neurology", as well as for geneticists, pediatricians, endocrinologists, neurologists, laboratory geneticists and specialists in the field of clinical laboratory diagnostics when teaching them under advanced training programs. Published by the decision of the educational and methodological commission of the Institute of Higher and Additional Professional Education of the Federal State Budgetary Scientific Institution “Medical Genetic Research Center named after Academician N.P. Bochkov” dated 23.09.2022

Publisher

Triumph Publishing

Reference8 articles.

1. Залетаев Д.В., Немцова М.В., Стрельников В.В. Геномный импринтинг и наследственные заболевания у человека. Глава 22. Национальное руководство. Медицинская генетика / под ред. академика РАН Е.К. Гинтера, акад. РАН В.П. Пузырева, члена-корр. РАН С.И. Куцева. М.: «ГЭОТАР-Медиа». 2022. – 516., Zaletaev D.V., Nemcova M.V., Strel'nikov V.V. Genomnyy imprinting i nasledstvennye zabolevaniya u cheloveka. Glava 22. Nacional'noe rukovodstvo. Medicinskaya genetika / pod red. akademika RAN E.K. Gintera, akad. RAN V.P. Puzyreva, chlena-korr. RAN S.I. Kuceva. M.: «GEOTAR-Media». 2022. – 516.

2. Driscoll D.J., Miller J.L., Schwartz S., Cassidy S.B. Prader-Willi Syndrome. 1998 [updated 2017 Dec 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301505., Driscoll D.J., Miller J.L., Schwartz S., Cassidy S.B. Prader-Willi Syndrome. 1998 [updated 2017 Dec 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301505.

3. Beygo J. et al. Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes. European journal of human genetics. 2019. 27:1326–1340., Beygo J. et al. Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes. European journal of human genetics. 2019. 27:1326–1340.

4. Nygren A.O. et al. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res. 2005. 33:e128., Nygren A.O. et al. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res. 2005. 33:e128.

5. Лебедев И.Н. Методы цитогенетической диагностики хромосомных болезней. Глава 16. Национальное руководство. Медицинская генетика / под ред. академика РАН Е.К. Гинтера, академика РАН В.П. Пузырева, члена-корреспондента РАН С.И. Куцева. М.: Издательская группа «ГЭОТАР-Медиа». 2022. – 374., Lebedev I.N. Metody citogeneticheskoy diagnostiki hromosomnyh bolezney. Glava 16. Nacional'noe rukovodstvo. Medicinskaya genetika / pod red. akademika RAN E.K. Gintera, akademika RAN V.P. Puzyreva, chlena-korrespondenta RAN S.I. Kuceva. M.: Izdatel'skaya gruppa «GEOTAR-Media». 2022. – 374.