G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1993r;52(3):551–6. PMID: 8447321","Мазунин И.О., Володько Н.В., Стариковская Е.Б., Сукерник Р.И. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010;44(5):755–72.","Celentano V., Esposito E., Perrotta S., Giglio M.C., Tarquini R., Luglio G., et al. Madelung disease: report of a case and review of the literature. Acta Chir Belg. 2014;114(6):417–20. PMID: 26021689","Lemaitre M., Chevalier B., Jannin A., Bourry J., Espiard S., Vantyghem M.C. Multiple symmetric and multiple familial lipomatosis. Presse Med. 2021;50(3):104077. DOI: 10.1016/j.lpm.2021.104077","Вецмадян Е.А., Труфанов Г.Е., Рязанов В.В., Мостовая О.Т., Новиков К.В., Карайванов Н.С. Ультразвуковая диагностика липом мягких тканей с использованием методик цветного допплеровского картирования и эластографии. Вестник Российской Военно-медицинской академии. 2012;2(38):43–50.","Богов А.А., Андреев П.С., Филиппов В.Л., Топыркин В.Г. Оперативное лечение болезни Маделунга. Практическая медицина. 2018;16(7-1):90–3.","Уракова Е.В., Нестеров О.В., Ильина Р.Ю., Лексин Р.В. Хирургическая тактика при рецидивирующем липоматозе (болезни Маделунга). Клинический случай. Практическая медицина. 2022;20(6):131–3.","Егай А.А., Тентимишев А.Э., Норматов Р.М., Тян А.С. Хирургическое лечение множественного симметричного липоматоза (болезнь Маделунга), осложненного сдавлением яремных вен с обеих сторон. Преимущества липэктомии перед липосакцией. Научное обозрение. Медицинские науки. 2022;1:5– 10. DOI: 10.17513/srms.1225","Тимербулатов М.В., Шорнина А.С., Лихтер Р.А., Каипов А.Э. Оценка липосакции в структуре абдоминопластики и сочетанной герниоабдоминопластики. Креативная хирургия и онкология. 2023;13(4):278–83. DOI: 10.24060/2076-3093-2023-13-4-278-283","Dang Y., Du X., Ou X., Zheng Q., Xie F. Advances in diagnosis and treatment of Madelung’s deformity. Am J Transl Res. 2023;15(7):4416–24.","Leti Acciaro A, Garagnani L, Lando M, Lana D, Sartini S, Adani R. Modified dome osteotomy and anterior locking plate fixation for distal radius variant of Madelung deformity: a retrospective study. J Plast Surg Hand Surg. 2022;56(2):121–6. DOI: 10.1080/2000656X.2021.1934845","Liu Q., Lyu H., Xu B., Lee J.H. Madelung disease epidemiology and clinical characteristics: a systemic review. Aesthetic Plast Surg. 2021;45(3):977–86. DOI: 10.1007/s00266-020-02083-5","Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review. J Laryngol Otol. 2012;126(7):756–8. DOI: 10.1017/S0022215112000709","Kratz C., Lenard H.G., Ruzicka T., Gärtner J. Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation. Eur J Paediatr Neurol. 2000;4(2):63–7. DOI: 10.1053/ejpn.2000.0264","Nounla J., Rolle U., Gräfe G., Kräling K. Benign symmetric lipomatosis with myelomeningocele in an adolescent: An uncommon association-case report. J Pediatr Surg. 2001;36(7):E13. DOI: 10.1053/jpsu.2001.24776","Madelung O.W. Über den Fetthals (diffuses Lipom des Halses). Arch Klin Chir. 1888;37:106-30.","Lanois P.E., Bensaude R. De ladeno-lipomatosesymetrique. Bull Mem Soc Med Hosp. 1898;1:298.","El Ouahabi H., Doubi S., Lahlou K., Boujraf S., Ajdi F. Launois-bensaude syndrome: A benign symmetric lipomatosis without alcohol association. Ann Afr Med. 2017;16(1):33–4. DOI: 10.4103/1596-3519.202082","Chen C.Y., Fang Q.Q., Wang X.F., Zhang M.X., Zhao W.Y., Shi B.H., et al. Madelung’s disease: lipectomy or liposuction? Biomed Res Int. 2018;3975974. DOI: 10.1155/2018/3975974","Coker J.E., Bryan J.A. Endocrine and metabolic disorders: Causes and pathogenesis of obesity. J. Fam. Pract. 2008;4:21–6.","González-García R., Rodríguez-Campo F.J., Sastre-Pérez J., Muñoz-Guerra M.F. Benign symmetric lipomatosis (Madelung’s disease): case reports and current management. Aesthetic Plast Surg. 2004;28(2):108– 12; discussion 113. DOI: 10.1007/s00266-004-3123-5","Holme E., Larsson N.G., Oldfors A., Tulinius M., Sahlin P., Stenman G. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1993r;52(3):551–6. PMID: 8447321","Мазунин И.О., Володько Н.В., Стариковская Е.Б., Сукерник Р.И. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010;44(5):755–72.","Celentano V., Esposito E., Perrotta S., Giglio M.C., Tarquini R., Luglio G., et al. Madelung disease: report of a case and review of the literature. Acta Chir Belg. 2014;114(6):417–20. PMID: 26021689","Lemaitre M., Chevalier B., Jannin A., Bourry J., Espiard S., Vantyghem M.C. Multiple symmetric and multiple familial lipomatosis. Presse Med. 2021;50(3):104077. DOI: 10.1016/j.lpm.2021.104077","Вецмадян Е.А., Труфанов Г.Е., Рязанов В.В., Мостовая О.Т., Новиков К.В., Карайванов Н.С. Ультразвуковая диагностика липом мягких тканей с использованием методик цветного допплеровского картирования и эластографии. Вестник Российской Военно-медицинской академии. 2012;2(38):43–50.","Богов А.А., Андреев П.С., Филиппов В.Л., Топыркин В.Г. Оперативное лечение болезни Маделунга. Практическая медицина. 2018;16(7-1):90–3.","Уракова Е.В., Нестеров О.В., Ильина Р.Ю., Лексин Р.В. Хирургическая тактика при рецидивирующем липоматозе (болезни Маделунга). Клинический случай. Практическая медицина. 2022;20(6):131–3.","Егай А.А., Тентимишев А.Э., Норматов Р.М., Тян А.С. Хирургическое лечение множественного симметричного липоматоза (болезнь Маделунга), осложненного сдавлением яремных вен с обеих сторон. Преимущества липэктомии перед липосакцией. Научное обозрение. Медицинские науки. 2022;1:5– 10. DOI: 10.17513/srms.1225","Тимербулатов М.В., Шорнина А.С., Лихтер Р.А., Каипов А.Э. Оценка липосакции в структуре абдоминопластики и сочетанной герниоабдоминопластики. Креативная хирургия и онкология. 2023;13(4):278–83. DOI: 10.24060/2076-3093-2023-13-4-278-283","Dang Y., Du X., Ou X., Zheng Q., Xie F. Advances in diagnosis and treatment of Madelung’s deformity. Am J Transl Res. 2023;15(7):4416–24.","Leti Acciaro A, Garagnani L, Lando M, Lana D, Sartini S, Adani R. Modified dome osteotomy and anterior locking plate fixation for distal radius variant of Madelung deformity: a retrospective study. J Plast Surg Hand Surg. 2022;56(2):121–6. DOI: 10.1080/2000656X.2021.1934845"],"dc.citation.ru":["Liu Q., Lyu H., Xu B., Lee J.H. Madelung disease epidemiology and clinical characteristics: a systemic review. Aesthetic Plast Surg. 2021;45(3):977–86. DOI: 10.1007/s00266-020-02083-5","Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review. J Laryngol Otol. 2012;126(7):756–8. DOI: 10.1017/S0022215112000709","Kratz C., Lenard H.G., Ruzicka T., Gärtner J. Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation. Eur J Paediatr Neurol. 2000;4(2):63–7. DOI: 10.1053/ejpn.2000.0264","Nounla J., Rolle U., Gräfe G., Kräling K. Benign symmetric lipomatosis with myelomeningocele in an adolescent: An uncommon association-case report. J Pediatr Surg. 2001;36(7):E13. DOI: 10.1053/jpsu.2001.24776","Madelung O.W. Über den Fetthals (diffuses Lipom des Halses). Arch Klin Chir. 1888;37:106-30.","Lanois P.E., Bensaude R. De ladeno-lipomatosesymetrique. Bull Mem Soc Med Hosp. 1898;1:298.","El Ouahabi H., Doubi S., Lahlou K., Boujraf S., Ajdi F. Launois-bensaude syndrome: A benign symmetric lipomatosis without alcohol association. Ann Afr Med. 2017;16(1):33–4. DOI: 10.4103/1596-3519.202082","Chen C.Y., Fang Q.Q., Wang X.F., Zhang M.X., Zhao W.Y., Shi B.H., et al. Madelung’s disease: lipectomy or liposuction? Biomed Res Int. 2018;3975974. DOI: 10.1155/2018/3975974","Coker J.E., Bryan J.A. Endocrine and metabolic disorders: Causes and pathogenesis of obesity. J. Fam. Pract. 2008;4:21–6.","González-García R., Rodríguez-Campo F.J., Sastre-Pérez J., Muñoz-Guerra M.F. Benign symmetric lipomatosis (Madelung’s disease): case reports and current management. Aesthetic Plast Surg. 2004;28(2):108– 12; discussion 113. DOI: 10.1007/s00266-004-3123-5","Holme E., Larsson N.G., Oldfors A., Tulinius M., Sahlin P., Stenman G. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1993r;52(3):551–6. PMID: 8447321","Мазунин И.О., Володько Н.В., Стариковская Е.Б., Сукерник Р.И. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010;44(5):755–72.","Celentano V., Esposito E., Perrotta S., Giglio M.C., Tarquini R., Luglio G., et al. Madelung disease: report of a case and review of the literature. Acta Chir Belg. 2014;114(6):417–20. PMID: 26021689","Lemaitre M., Chevalier B., Jannin A., Bourry J., Espiard S., Vantyghem M.C. Multiple symmetric and multiple familial lipomatosis. Presse Med. 2021;50(3):104077. DOI: 10.1016/j.lpm.2021.104077","Вецмадян Е.А., Труфанов Г.Е., Рязанов В.В., Мостовая О.Т., Новиков К.В., Карайванов Н.С. Ультразвуковая диагностика липом мягких тканей с использованием методик цветного допплеровского картирования и эластографии. Вестник Российской Военно-медицинской академии. 2012;2(38):43–50.","Богов А.А., Андреев П.С., Филиппов В.Л., Топыркин В.Г. Оперативное лечение болезни Маделунга. Практическая медицина. 2018;16(7-1):90–3.","Уракова Е.В., Нестеров О.В., Ильина Р.Ю., Лексин Р.В. Хирургическая тактика при рецидивирующем липоматозе (болезни Маделунга). Клинический случай. Практическая медицина. 2022;20(6):131–3.","Егай А.А., Тентимишев А.Э., Норматов Р.М., Тян А.С. Хирургическое лечение множественного симметричного липоматоза (болезнь Маделунга), осложненного сдавлением яремных вен с обеих сторон. Преимущества липэктомии перед липосакцией. Научное обозрение. Медицинские науки. 2022;1:5– 10. DOI: 10.17513/srms.1225","Тимербулатов М.В., Шорнина А.С., Лихтер Р.А., Каипов А.Э. Оценка липосакции в структуре абдоминопластики и сочетанной герниоабдоминопластики. Креативная хирургия и онкология. 2023;13(4):278–83. DOI: 10.24060/2076-3093-2023-13-4-278-283","Dang Y., Du X., Ou X., Zheng Q., Xie F. Advances in diagnosis and treatment of Madelung’s deformity. Am J Transl Res. 2023;15(7):4416–24.","Leti Acciaro A, Garagnani L, Lando M, Lana D, Sartini S, Adani R. Modified dome osteotomy and anterior locking plate fixation for distal radius variant of Madelung deformity: a retrospective study. J Plast Surg Hand Surg. 2022;56(2):121–6. DOI: 10.1080/2000656X.2021.1934845"],"dc.citation.en":["Liu Q., Lyu H., Xu B., Lee J.H. Madelung disease epidemiology and clinical characteristics: a systemic review. Aesthetic Plast Surg. 2021;45(3):977–86. DOI: 10.1007/s00266-020-02083-5","Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review. J Laryngol Otol. 2012;126(7):756–8. DOI: 10.1017/S0022215112000709","Kratz C., Lenard H.G., Ruzicka T., Gärtner J. Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation. Eur J Paediatr Neurol. 2000;4(2):63–7. DOI: 10.1053/ejpn.2000.0264","Nounla J., Rolle U., Gräfe G., Kräling K. Benign symmetric lipomatosis with myelomeningocele in an adolescent: An uncommon association-case report. J Pediatr Surg. 2001;36(7):E13. DOI: 10.1053/jpsu.2001.24776","Madelung O.W. Über den Fetthals (diffuses Lipom des Halses). Arch Klin Chir. 1888;37:106-30.","Lanois P.E., Bensaude R. De ladeno-lipomatosesymetrique. Bull Mem Soc Med Hosp. 1898;1:298.","El Ouahabi H., Doubi S., Lahlou K., Boujraf S., Ajdi F. Launois-bensaude syndrome: A benign symmetric lipomatosis without alcohol association. Ann Afr Med. 2017;16(1):33–4. DOI: 10.4103/1596-3519.202082","Chen C.Y., Fang Q.Q., Wang X.F., Zhang M.X., Zhao W.Y., Shi B.H., et al. Madelung’s disease: lipectomy or liposuction? Biomed Res Int. 2018;3975974. DOI: 10.1155/2018/3975974","Coker J.E., Bryan J.A. Endocrine and metabolic disorders: Causes and pathogenesis of obesity. J. Fam. Pract. 2008;4:21–6.","González-García R., Rodríguez-Campo F.J., Sastre-Pérez J., Muñoz-Guerra M.F. Benign symmetric lipomatosis (Madelung’s disease): case reports and current management. Aesthetic Plast Surg. 2004;28(2):108– 12; discussion 113. DOI: 10.1007/s00266-004-3123-5","Holme E., Larsson N.G., Oldfors A., Tulinius M., Sahlin P., Stenman G. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1993r;52(3):551–6. PMID: 8447321","Мазунин И.О., Володько Н.В., Стариковская Е.Б., Сукерник Р.И. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010;44(5):755–72.","Celentano V., Esposito E., Perrotta S., Giglio M.C., Tarquini R., Luglio G., et al. Madelung disease: report of a case and review of the literature. Acta Chir Belg. 2014;114(6):417–20. PMID: 26021689","Lemaitre M., Chevalier B., Jannin A., Bourry J., Espiard S., Vantyghem M.C. Multiple symmetric and multiple familial lipomatosis. Presse Med. 2021;50(3):104077. DOI: 10.1016/j.lpm.2021.104077","Вецмадян Е.А., Труфанов Г.Е., Рязанов В.В., Мостовая О.Т., Новиков К.В., Карайванов Н.С. Ультразвуковая диагностика липом мягких тканей с использованием методик цветного допплеровского картирования и эластографии. Вестник Российской Военно-медицинской академии. 2012;2(38):43–50.","Богов А.А., Андреев П.С., Филиппов В.Л., Топыркин В.Г. Оперативное лечение болезни Маделунга. Практическая медицина. 2018;16(7-1):90–3.","Уракова Е.В., Нестеров О.В., Ильина Р.Ю., Лексин Р.В. Хирургическая тактика при рецидивирующем липоматозе (болезни Маделунга). Клинический случай. Практическая медицина. 2022;20(6):131–3.","Егай А.А., Тентимишев А.Э., Норматов Р.М., Тян А.С. Хирургическое лечение множественного симметричного липоматоза (болезнь Маделунга), осложненного сдавлением яремных вен с обеих сторон. Преимущества липэктомии перед липосакцией. Научное обозрение. Медицинские науки. 2022;1:5– 10. DOI: 10.17513/srms.1225","Тимербулатов М.В., Шорнина А.С., Лихтер Р.А., Каипов А.Э. Оценка липосакции в структуре абдоминопластики и сочетанной герниоабдоминопластики. Креативная хирургия и онкология. 2023;13(4):278–83. DOI: 10.24060/2076-3093-2023-13-4-278-283","Dang Y., Du X., Ou X., Zheng Q., Xie F. Advances in diagnosis and treatment of Madelung’s deformity. Am J Transl Res. 2023;15(7):4416–24.","Leti Acciaro A, Garagnani L, Lando M, Lana D, Sartini S, Adani R. Modified dome osteotomy and anterior locking plate fixation for distal radius variant of Madelung deformity: a retrospective study. J Plast Surg Hand Surg. 2022;56(2):121–6. DOI: 10.1080/2000656X.2021.1934845"],"dc.identifier.uri":["http://hdl.handle.net/123456789/8932"],"dc.date.accessioned_dt":"2025-07-09T13:59:02Z","dc.date.accessioned":["2025-07-09T13:59:02Z"],"dc.date.available":["2025-07-09T13:59:02Z"],"publication_grp":["123456789/8932"],"bi_4_dis_filter":["madelung’s disease\n|||\nMadelung’s disease","lipectomy\n|||\nlipectomy","диффузный симметричный липоматоз\n|||\nдиффузный симметричный липоматоз","шеи новообразования\n|||\nшеи новообразования","липэктомия\n|||\nлипэктомия","diffuse symmetric lipomatosis\n|||\ndiffuse symmetric lipomatosis","adipose tissue proliferation\n|||\nadipose tissue proliferation","жировой ткани разрастание\n|||\nжировой ткани разрастание","болезнь маделунга\n|||\nболезнь Маделунга","neck neoplasms\n|||\nneck neoplasms"],"bi_4_dis_partial":["липэктомия","Madelung’s disease","diffuse symmetric lipomatosis","neck neoplasms","болезнь Маделунга","adipose tissue proliferation","шеи новообразования","lipectomy","диффузный симметричный липоматоз","жировой ткани разрастание"],"bi_4_dis_value_filter":["липэктомия","Madelung’s disease","diffuse symmetric lipomatosis","neck neoplasms","болезнь Маделунга","adipose tissue proliferation","шеи новообразования","lipectomy","диффузный симметричный липоматоз","жировой ткани разрастание"],"bi_sort_1_sort":"systemic benign lipomatosis (madelung’s disease): experience of surgical treatment. clinical case","bi_sort_3_sort":"2025-07-09T13:59:02Z","read":["g0"],"_version_":1837178072511545344},{"SolrIndexer.lastIndexed":"2025-04-23T08:41:33.943Z","search.uniqueid":"2-7884","search.resourcetype":2,"search.resourceid":7884,"handle":"123456789/8774","location":["m229","l684"],"location.comm":["229"],"location.coll":["684"],"withdrawn":"false","discoverable":"true","author":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"author_keyword":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"author_ac":["mustafin, r.n.\n|||\nMustafin, R.N.","bermisheva, m.a.\n|||\nBermisheva, M.A.","karunas, a.s.\n|||\nKarunas, A.S.","akhmetshin, a.a.\n|||\nAkhmetshin, A.A.","monakhova, a.s.\n|||\nMonakhova, A.S.","khusnutdinova, e.k.\n|||\nKhusnutdinova, E.K."],"author_filter":["mustafin, r.n.\n|||\nMustafin, R.N.","bermisheva, m.a.\n|||\nBermisheva, M.A.","karunas, a.s.\n|||\nKarunas, A.S.","akhmetshin, a.a.\n|||\nAkhmetshin, A.A.","monakhova, a.s.\n|||\nMonakhova, A.S.","khusnutdinova, e.k.\n|||\nKhusnutdinova, E.K."],"dc.contributor.author_hl":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"dc.contributor.author_mlt":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"dc.contributor.author":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"dc.contributor.author_stored":["Mustafin, R.N.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Bermisheva, M.A.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Karunas, A.S.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Akhmetshin, A.A.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Monakhova, A.S.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Khusnutdinova, E.K.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen"],"dc.contributor.author.en":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"dc.date.accessioned_dt":"2025-04-23T07:52:22Z","dc.date.accessioned":["2025-04-23T07:52:22Z"],"dc.date.available":["2025-04-23T07:52:22Z"],"dateIssued":["2025-01-01"],"dateIssued_keyword":["2025-01-01","2025"],"dateIssued_ac":["2025-01-01\n|||\n2025-01-01","2025"],"dateIssued.year":[2025],"dateIssued.year_sort":"2025","dc.date.issued_dt":"2025-01-01T00:00:00Z","dc.date.issued":["2025-01-01"],"dc.date.issued_stored":["2025-01-01\n|||\nnull\n|||\nnull\n|||\nnull\n|||\n"],"dc.description.abstract_hl":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.description.abstract":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.description.abstract.en":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.description.sponsorship":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.description.sponsorship.en":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.doi":["10.24412/2500-2295-2025-1-91-105"],"dc.doi.en":["10.24412/2500-2295-2025-1-91-105"],"dc.identifier.issn":["2500-2287"],"dc.identifier.uri":["http://hdl.handle.net/123456789/8774"],"dc.language.iso":["en"],"dc.language.iso.en":["en"],"dc.publisher":["Lobachevsky State University of Nizhny Novgorod"],"dc.publisher.en":["Lobachevsky State University of Nizhny Novgorod"],"dc.relation.ispartofseries":["Opera Medica et Physiologica;v. 12 № 1"],"dc.relation.ispartofseries.en":["Opera Medica et Physiologica;v. 12 № 1"],"subject":["genotype-phenotypic correlations","neurofibromatosis type 1","NF1 gene","nonsense pathogenic variants","treatment","Scopus"],"subject_keyword":["genotype-phenotypic correlations","genotype-phenotypic correlations","neurofibromatosis type 1","neurofibromatosis type 1","NF1 gene","NF1 gene","nonsense pathogenic variants","nonsense pathogenic variants","treatment","treatment","Scopus","Scopus"],"subject_ac":["genotype-phenotypic correlations\n|||\ngenotype-phenotypic correlations","neurofibromatosis type 1\n|||\nneurofibromatosis type 1","nf1 gene\n|||\nNF1 gene","nonsense pathogenic variants\n|||\nnonsense pathogenic variants","treatment\n|||\ntreatment","scopus\n|||\nScopus"],"subject_tax_0_filter":["genotype-phenotypic correlations\n|||\ngenotype-phenotypic correlations","neurofibromatosis type 1\n|||\nneurofibromatosis type 1","nf1 gene\n|||\nNF1 gene","nonsense pathogenic variants\n|||\nnonsense pathogenic variants","treatment\n|||\ntreatment","scopus\n|||\nScopus"],"subject_filter":["genotype-phenotypic correlations\n|||\ngenotype-phenotypic correlations","neurofibromatosis type 1\n|||\nneurofibromatosis type 1","nf1 gene\n|||\nNF1 gene","nonsense pathogenic variants\n|||\nnonsense pathogenic variants","treatment\n|||\ntreatment","scopus\n|||\nScopus"],"dc.subject_mlt":["genotype-phenotypic correlations","neurofibromatosis type 1","NF1 gene","nonsense pathogenic variants","treatment","Scopus"],"dc.subject":["genotype-phenotypic correlations","neurofibromatosis type 1","NF1 gene","nonsense pathogenic variants","treatment","Scopus"],"dc.subject.en":["genotype-phenotypic correlations","neurofibromatosis type 1","NF1 gene","nonsense pathogenic variants","treatment","Scopus"],"title":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"title_keyword":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"title_ac":["analysis of clinical manifestations of neurofibromatosis type 1 in patients with nonsense pathogenic variants in the nf1 gene from the republic of bashkortostan\n|||\nANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title_sort":"ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN","dc.title_hl":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title_mlt":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title_stored":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen"],"dc.title.en":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title.alternative":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title.alternative.en":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.type":["Article"],"dc.type.en":["Article"],"publication_grp":["123456789/8774"],"bi_2_dis_filter":["mustafin, r.n.\n|||\nMustafin, R.N.","bermisheva, m.a.\n|||\nBermisheva, M.A.","akhmetshin, a.a.\n|||\nAkhmetshin, A.A.","khusnutdinova, e.k.\n|||\nKhusnutdinova, E.K.","karunas, a.s.\n|||\nKarunas, A.S.","monakhova, a.s.\n|||\nMonakhova, A.S."],"bi_2_dis_partial":["Karunas, A.S.","Khusnutdinova, E.K.","Akhmetshin, A.A.","Mustafin, R.N.","Monakhova, A.S.","Bermisheva, M.A."],"bi_2_dis_value_filter":["Karunas, A.S.","Khusnutdinova, E.K.","Akhmetshin, A.A.","Mustafin, R.N.","Monakhova, A.S.","Bermisheva, M.A."],"bi_4_dis_filter":["genotype-phenotypic correlations\n|||\ngenotype-phenotypic correlations","nf1 gene\n|||\nNF1 gene","nonsense pathogenic variants\n|||\nnonsense pathogenic variants","treatment\n|||\ntreatment","scopus\n|||\nScopus","neurofibromatosis type 1\n|||\nneurofibromatosis type 1"],"bi_4_dis_partial":["genotype-phenotypic correlations","treatment","Scopus","nonsense pathogenic variants","neurofibromatosis type 1","NF1 gene"],"bi_4_dis_value_filter":["genotype-phenotypic correlations","treatment","Scopus","nonsense pathogenic variants","neurofibromatosis type 1","NF1 gene"],"bi_sort_1_sort":"analysis of clinical manifestations of neurofibromatosis type 1 in patients with nonsense pathogenic variants in the nf1 gene from the republic of bashkortostan","bi_sort_2_sort":"2025","bi_sort_3_sort":"2025-04-23T07:52:22Z","read":["g0"],"_version_":1830182132343898112}]},"facet_counts":{"facet_queries":{},"facet_fields":{},"facet_dates":{},"facet_ranges":{},"facet_intervals":{}},"highlighting":{"2-6230":{"dc.description.abstract":[" of retroelements in the elderly is responsible for more severe course of COVID-19. The associations of multiple"],"dc.description.abstract.en":[" of retroelements in the elderly is responsible for more severe course of COVID-19. The associations of multiple"],"dc.description.abstract_hl":[" of retroelements in the elderly is responsible for more severe course of COVID-19. The associations of multiple"]},"2-6671":{"dc.description.abstract":[" modification and pointed out the need for data integration using mathematic\nmodelling of the multiple ceramic"],"dc.description.abstract.en":[" modification and pointed out the need for data integration using mathematic\nmodelling of the multiple ceramic"],"dc.description.abstract_hl":[" modification and pointed out the need for data integration using mathematic\nmodelling of the multiple ceramic"]},"2-7933":{"dc.description.abstract":[", the median level of the multiplicity of the tolerant load was significantly higher than that in the control"],"dc.description.abstract.en":[", the median level of the multiplicity of the tolerant load was significantly higher than that in the control"],"dc.description.abstract_hl":[", the median level of the multiplicity of the tolerant load was significantly higher than that in the control"]},"2-7992":{"dc.description.abstract":[" soil stressors considerably impede global agricultural productivity. Multiple research efforts have"],"dc.description.abstract.en":[" soil stressors considerably impede global agricultural productivity. Multiple research efforts have"],"dc.description.abstract_hl":[" soil stressors considerably impede global agricultural productivity. Multiple research efforts have"]},"2-4268":{"dc.citation.en":["Shepherd, J.R. In situ fracture / J.R. Shepherd // J. Cataract Refract Surg. - 1990. - Vol. 16. - P"],"dc.citation.ru":["Shepherd, J.R. In situ fracture / J.R. Shepherd // J. Cataract Refract Surg. - 1990. - Vol. 16. - P"],"dc.citation":["Shepherd, J.R. In situ fracture / J.R. Shepherd // J. Cataract Refract Surg. - 1990. - Vol. 16. - P"]},"2-3439":{"dc.citation.en":[" ultrasound analysis of stent strut distribution and fracture: an integrated analysis of the taxus IV, V"],"dc.citation.ru":[" ultrasound analysis of stent strut distribution and fracture: an integrated analysis of the taxus IV, V"],"dc.citation":[" ultrasound analysis of stent strut distribution and fracture: an integrated analysis of the taxus IV, V"]},"2-2561":{"dc.description.abstract":[" on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from"],"dc.description.abstract.en":[" on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from"],"dc.description.abstract_hl":[" on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from"]},"2-3931":{"dc.description.abstract":[" conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were"],"dc.description.abstract.en":[" conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were"],"dc.description.abstract_hl":[" conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were"]},"2-8043":{"dc.citation.en":["Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review"],"dc.citation.ru":["Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review"],"dc.citation":["Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review"]},"2-7884":{"dc.description.abstract":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"],"dc.description.sponsorship.en":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"],"dc.description.abstract.en":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"],"dc.description.abstract_hl":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"],"dc.description.sponsorship":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"]}}} -->