-
1Academic Journal
Authors: Yu. L. Mizernitsky, T. N. Pronkina, I. E. Zorina, V. I. Burlakov, Yu. A. Rodina, A. Yu. Shcherbin, Ю. Л. Мизерницкий, Т. Н. Пронькина, И. Е. Зорина, В. И. Бурлаков, Ю. А. Родина, А. Ю. Щербина
Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 70, № 1 (2025); 70-74 ; Российский вестник перинатологии и педиатрии; Том 70, № 1 (2025); 70-74 ; 2500-2228 ; 1027-4065
Subject Terms: молекулярно-генетическое обследование, Roifman syndrome, primary immunodeficiency, molecular genetic examination, синдром Ройфмана, первичный иммунодефицит
File Description: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/2142/1569; Roifman C.M. Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome. Clin Genet 1999; 55(2): 103–109. DOI:10.1034/j.1399–0004.1999.550206.x.; Merico D., Roifman M., Braunschweig U., Yuen R.K., Alexandrova R., Bates A. et al. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. Nat Commun 2015; 2(6): 8718. DOI:10.1038/ncomms9718; Thomas P.S., Nevin N.C. Congenital familial dwarfism with cephalo-skeletal dysplasia. Ann Radiol (Paris) 1976; 19(1): 187–192; Edery P., Marcaillou C., Sahbatou M., Labalme A., Chastang J., Touraine R. et al. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science 2011; 332(6026): 240–243. DOI:10.1126/science.1202205; He H., Liyanarachchi S., Akagi K., Nagy R., Li J., Dietrich R.C., et al. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science 2011; 332(6026): 238–240. DOI:10.1126/science.1200587; Lowry R.B., Wood B.J. Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus. Clin Genet 1975; 8(4): 269–274. DOI:10.1111/j.1399–0004.1975.tb01502.x; Duker A., Velasco D., Robertson N., Jackson A., DeFelice M., Bober M.B. RNU4atac-opathy. In: Adam M.P., Feldman J., Mirzaa G.M., Pagon R.A., Wallace S.E., Amemiya A., et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. Available from: http://www.ncbi.nlm.nih.gov/books/NBK589232/; Pierce M.J., Morse R.P. The neurologic findings in Taybi–Linder syndrome (MOPD I/III): case report and review of the literature. Am J Med Genet A 2012; 158A(3): 606–610. DOI:10.1002/ajmg.a.33958; Sigaudy S., Toutain A., Moncla A., Fredouille C., Bourlière B., Ayme S., et al. Microcephalic osteodysplastic primordial dwarfism Taybi–Linder type: report of four cases and review of the literature. Am J Med Genet 1998; 80(1): 16–24; Krøigård A.B., Jackson A.P., Bicknell L.S., Baple E., Brusgaard K., Hansen L.K., et al. Two novel mutations in RNU-4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clin Dysmorphol 2016; 25(2): 68–72. DOI:10.1097/MCD.0000000000000110; Clifford D., Moloney F., Leahy T.R., Murray D.M. Roifman syndrome: a description of further immunological and radiological features. BMJ Case Rep 2022; 15(4): e249109. DOI:10.1136/bcr-2022–249109; Ballios B.G., Mandola A., Tayyib A., Tumber A., Garkaby J., Vong L., et al. Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome. Eye (Lond) 2023; 37(18): 3734–3742. DOI:10.1038/s41433–023–02581–1; Fairchild H.R., Fairchild G., Tierney K.M., McCartney D.L., Cross J.J., de Vries P.J. Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome. Am J Med Genet A 2011; 155A(10): 2560–2565. DOI:10.1002/ajmg.a.34215; Roifman C.M. Primary T-Cell Immunodeficiencies. In: Clinical Immunology [Internet]. Elsevier; 2019 [cited 2024 Nov 7]: 489–508. Available from: https://linkinghub.elsevier.com/retrieve/pii/B9780702068966000351; Tangye S.G., Al-Herz W., Bousfiha A., Cunningham-Rundles C., Franco J.L., Holland S.M., et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2022; 42(7): 1473–1507. DOI:10.1007/s10875–022–01289–3; Gutierrez M., Deng Z., McElwee J., Siegel R.M., Hanson E. U4ATAC Mutation Is Associated with an Immune Dysregulation Syndrome Characterized By Primary Immunodeficiency, Short Stature and Polyglandular Endocrinopathy [abstract]. Arthritis Rheumatol 2016; 68 (suppl 10).; Mandel K., Grunebaum E., Benson L. Noncompaction of the myocardium associated with Roifman syndrome. Cardiol Young 2001; 11(2): 240–243. DOI:10.1017/s1047951101000208; Robertson S.P., Rodda C., Bankier A. Hypogonadotrophic hypogonadism in Roifman syndrome. Clin Genet 2000; 57(6): 435–438. DOI:10.1034/j.1399–0004.2000.570606.x; Schejter Y.D., Ovadia A., Alexandrova R., Thiruvahindrapuram B., Pereira S.L., Manson D.E., et al. A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome. NPJ Genom Med 2017; 10(2): 23. DOI:10.1038/s41525–017–0024–5; El Marabti E., Malek J., Younis I. Minor Intron Splicing from Basic Science to Disease. Int J Mol Sci 2021; 22(11): 6062. DOI:10.3390/ijms22116062; Heremans J., Garcia-Perez J.E., Turro E., Schlenner S.M., Casteels I., Collin R. et al. National Institute for Health Research BioResource; Thys C., Van Geet C., Van Nieuwenhove E., Wouters C., Meyts I., Freson K. et al. Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome. J Allergy Clin Immunol 2018; 142(2): 630–646. DOI:10.1016/j.jaci.2017.11.061
-
2Academic Journal
Authors: N. N. Martynovich, O. N. Malinovskaya, N. I. Shakhovskaya, A. Yu. Vlasov, Н. Н. Мартынович, О. Н. Малиновская, Н. И. Шаховская, А. Ю. Власов
Source: Meditsinskiy sovet = Medical Council; № 11 (2024); 174–179 ; Медицинский Совет; № 11 (2024); 174–179 ; 2658-5790 ; 2079-701X
Subject Terms: орфанное заболевание, Duchenne muscular dystrophy, pseudohypertrophy of the gastrocnemius muscles, skeletal muscles, creatine phosphokinase, molecular genetic testing, orphan disease, мышечная дистрофия Дюшенна, псевдогипертрофия икроножных мышц, скелетные мышцы, креатинфосфокиназа, молекулярно-генетическое обследование
File Description: application/pdf
Relation: https://www.med-sovet.pro/jour/article/view/8442/7422; Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 2014;24(6):482–491. https://doi.org/10.1016/j.nmd.2014.03.008.; Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77–93. https://doi.org/10.1016/S1474-4422(09)70271-6.; Ferlini A, Neri M, Gualandi F. The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. Neuromuscul Disord. 2013;23(1):4–14. https://doi.org/10.1016/j.nmd.2012.09.002.; Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K et al. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015;36(4):395–402. https://doi.org/10.1002/humu.22758.; Анисимова ИВ, Артемьева СБ, Белоусова ЕД, Вашакмадзе НД, Влодавец ДВ, Гремякова ТА и др. Прогрессирующая мышечная дистрофия Дюшенна. Прогрессирующая мышечная дистрофия Беккера: клинические рекомендации. М.; 2023. 98 с. Режим доступа: https://cr.minzdrav.gov.ru/recomend/773_1.; Sussman M. Duchenne muscular dystrophy. J Am Acad Orthop Surg. 2002;10(2):138–151. https://doi.org/10.5435/00124635-200203000-00009.; Фельдман Е, Гризольд В, Рассел Дж, Лешер В. Атлас нервно-мышечных болезней: практическое руководство. М.: Практическая медицина; 2016. 392 с.; Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251–267. https://doi.org/10.1016/S1474-4422(18)30024-3.; Nallamilli BRR, Guruju N, Jump V, Liu R, Hegde M. Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS-Based Assay. Curr Protoc. 2023;3(2):e669. https://doi.org/10.1002/cpz1.669.; Emery AEH, Muntoni F, Quinlivan R. Duchenne Muscular Dystrophy. 4th ed. Oxford, UK: Oxford University Press; 2015. 320 р.; Nascimento Osorio A, Medina Cantillo J, Camacho Salas A, Madruga Garrido M, Vilchez Padilla JJ. Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. Neurologia (Engl Ed). 2019;34(7):469–481. https://doi.org/10.1016/j.nrl.2018.01.001.; Marden JR, Freimark J, Yao Z, Signorovitch J, Tian C, Wong BL. Real-world outcomes of long-term prednisone and deflazacort use in patients with Duchenne muscular dystrophy: experience at a single, large care center. J Comp Eff Res. 2020;9(3):177–189. https://doi.org/10.2217/cer-2019-0170.; Грознова ОС, Влодавец ДВ, Артемьева СБ. Поражение сердечно-сосудистой системы при прогрессирующей мышечной дистрофии Дюшенна: особенности диагностики, наблюдения и лечения. Педиатрия. Журнал имени Г.Н. Сперанского. 2020;99(3):95–102. https://doi.org/10.24110/0031403X-2020-99-3-95-102.; Гремякова ТА, Суслов ВМ, Сакбаева ГЕ, Степанов АА. Витамин D в профилактике и терапии коморбидных состояний при мышечной дистрофии Дюшенна. Неврологический журнал имени Л.О. Бадаляна. 2021;2(1):38–50. https://doi.org/10.46563/2686-8997-2021-2-1-38-50.; Araujo APQC, Nardes F, Fortes CPDD, Pereira JA, Rebel MF, Dias CM et al. Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care. Arq Neuropsiquiatr. 2018;76(7):481–489. https://doi.org/10.1590/0004-282X20180062.; Chen H. A Mini-Review on The Rehabilitation of Duchenne Muscular Dystrophy. EPMR. 2021;3(2):000560. Available at: https://crimsonpublishers.com/epmr/pdf/EPMR.000560.pdf.; Влодавец ДВ. Новая таргетная терапия при прогрессирующей мышечной дистрофии Дюшенна. Российский вестник перинатологии и педиатрии. 2015;(4):220. Режим доступа: https://www.ped-perinatology.ru/jour/article/view/196/236.
-
3Academic Journal
Authors: Жур, Н.В., Лебедь, Т.Л., Маринич, В.В., Кручинский, Н.Г., Евдолюк, С.В.
Subject Terms: опорно-двигательный аппарат, костная ткань, минеральная плотность, спортсмены, молекулярно-генетическое обследование, биохимическое обследование
File Description: application/pdf
Availability: https://rep.polessu.by/handle/123456789/34185
-
4Academic Journal
Authors: Лизункова, В.
Subject Terms: ГИПОГОНАДИЗМ,МОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКОЕ ОБСЛЕДОВАНИЕ
File Description: text/html
-
5Academic Journal
Source: Бюллетень медицинских интернет-конференций.
Subject Terms: ГИПОГОНАДИЗМ,МОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКОЕ ОБСЛЕДОВАНИЕ
File Description: text/html
