Εμφανίζονται 1 - 20 Αποτελέσματα από 68 για την αναζήτηση '"АРТРОГРИПОЗ"', χρόνος αναζήτησης: 0,80δλ Περιορισμός αποτελεσμάτων
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    Academic Journal

    Πηγή: Hospital Surgery. Journal named by L.Ya. Kovalchuk; No. 1 (2025); 32-36 ; Госпитальная хирургия. Журнал имени Л.А. Ковальчука; № 1 (2025); 32-36 ; Шпитальна хірургія. Журнал імені Л. Я. Ковальчука; № 1 (2025); 32-36 ; 2414-4533 ; 1681-2778 ; 10.11603/2414-4533.2025.1

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    Academic Journal

    Πηγή: Neuromuscular Diseases; Том 14, № 2 (2024); 25‑37 ; Нервно-мышечные болезни; Том 14, № 2 (2024); 25‑37 ; 2413-0443 ; 2222-8721

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    Relation: https://nmb.abvpress.ru/jour/article/view/600/382; https://nmb.abvpress.ru/jour/article/view/600/391; Coste B., Mathur J., Schmidt M. et al. Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels. Science 2010; 330(6000):55–60. DOI:10.1126/science.1193270; Coste B., Xiao B., Santos J.S. et al. Piezo proteins are pore-forming subunits of mechanically activated channels. Nature 2012;483(7388):176–81. DOI:10.1038/nature10812; Wang L., Zhou H., Zhang M. et al. Structure and mechanogating of the mammalian tactile channel PIEZO2. Nature 2019;573(7773):225–9. DOI:10.1038/s41586-019-1505-8; Guo Y.R., MacKinnon R. Structure-based membrane dome mechanism for Piezo mechanosensitivity. Elife 2017;6:e33660. DOI:10.7554/eLife.33660; Kefauver J.M., Ward A.B., Patapoutian A. Discoveries in structure and physiology of mechanically activated ion channels. Nature 2020;587(7835):567–76. DOI:10.1038/s41586-020-2933-1; Felsenthal N., Zelzer E. Mechanical regulation of musculoskeletal system development. Development 2017;144:4271–83. DOI:10.1242/dev.151266; McMillin M.J., Beck A.E., Chong J.X. et al. Mutations in PIEZO2 cause Gordon syndrome, Marden–Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet 2014;94(5):734–44.; Desai D., Stiene D., Song T., Sadayappan S. Distal arthrogryposis and lethal congenital contracture syndrome – an overview. Front Physiol 2020;11:689. DOI:10.3389/fphys.2020.00689; Coste B., Houge G., Murray M.F. et al. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of distal athrogryposis. Proc Natl Acad Sci USA 2013;110(12):4667–72. DOI:10.1073/pnas.1221400110; Маркова Т.В., Дадали Е.Л., Никитин С.С. и др. Клинико-генетические характеристики дистальных артрогрипозов, обусловленных мутациями в гене PIEZO2. Нервно-мышечные болезни 2021;11(2):48–55. DOI:10.17650/2222-8721-2021-11-2-48-55; Sherlaw-Sturrock C.A., Willis T., Kiely N. et al. PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a threegeneration family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group. Am J Med Genet A 2022;188(9):2790–5. DOI:10.1002/ajmg.a.62868; Xiong H., Yang J., Guo J. et al. Mechanosensitive Piezo channels mediate the physiological and pathophysiological changes in the respiratory system. Respir Res 2022;23(1):196. DOI:10.1186/s12931-022-02122-6; Ma Y., Zhao Y., Cai Z., Hao X. Mutations in PIEZO2 contribute to Gordon syndrome, Marden–Walker syndrome, and distal arthrogryposis: A bioinformatics analysis of mechanisms. Exp Ther Med 2019; 17(5):3518–24. DOI:10.3892/etm.2019.7381; Monies D., Abouelhoda M., Assoum M. et al. Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. Am J Hum Genet 2019;104(6):1182–201. DOI:10.1016/j.ajhg.2019.04.011; Haliloglu G., Becker K., Temucin C. et al. Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. J Hum Genet 2017;62(4):497–501. DOI:10.1038/jhg.2016.153; Delle Vedove A., Storbeck M., Heller R. et al. Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis. Am J Hum Genet 2016;99(5):1206–16. DOI:10.1016/j.ajhg.2016.09.019; https://nmb.abvpress.ru/jour/article/view/600

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    Academic Journal

    Πηγή: Medical Genetics; Том 23, № 8 (2024); 58-62 ; Медицинская генетика; Том 23, № 8 (2024); 58-62 ; 2073-7998

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    Relation: https://www.medgen-journal.ru/jour/article/view/2531/1813; Шаркова И.В., Никитин С.С., Маркова Т.В., и др. Клинико-генетические характеристики дистального артрогрипоза 7-го типа, обусловленного патогенным вариантом в гене MYH8. Нервно-мышечные болезни. 2023;13(3):64-70. https://doi.org/10.17650/2222-8721-2023-13-3-64-69.; Schiaffino S., Rossi A.C., Smerdu V. et al. Developmental myosins: expression patterns and functional significance. Skelet Muscle. 2015; 5: 22. doi:10.1186/s13395-015-0046-6.; Toydemir R.M., Chen H., Proud V.K. et al. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A. 2006; 140 (22): 2387-2393. doi:10.1002/ajmg.a.31495; Beals R.K. The distal arthrogryposes: a new classification of peripheral contractures. Clinical Orthopaedics and Related Research. 2005; 435: 203-210.; Sreenivasan P., Peedikayil F.C., Raj S.V. et al. Trismus pseudocamptodactyly syndrome: a sporadic cause of trismus. Case Rep Den. 2013; 2013:1-3. doi:10.1155/2013/187571.; Veugelers M., Bressan M., McDermott D.A. et al. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N Engl J Med. 2004; 351: 460-469.; Mabry C.C., Barnett I.S., Hutcheson M.W. et al. Trismus pseudocamptodactyly syndrome; Dutch-Kentucky syndrome. J. Pediat. 1974; 85 (4): 503-508. doi:10.1016/s0022-3476(74)80453-1.; Lefaivre J.F., Aitchison M.J. Surgical correction of trismus in a child with Hecht syndrome. Ann. Plast. Surg. 2003; 50: 310-314. doi:10.1097/01.sap.0000046787.17899.83.; ter Haar B.G., van Hoof R.F. The trismus-pseudocampylodactyly syndrome. J Med Genet. 1974; 11(1):41-9. doi:10.1136/jmg.11.1.41.; Minzer-Conzetti K., Wu E., Vargervik K. et al. Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. Clin Dysmorphol. 2008; 17(1): 1-4. doi:10.1097/MCD.0b013e3282efdad8; Bonapace G., Ceravolo F., Piccirillo A. et al. Germline mosaicism for the c.2021G>A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. Am J Med Genet A. 2010; 152A(11): 2898-900. doi:10.1002/ajmg.a.33671; Dai Z., Whitt Z., Mighion L.C. et al. Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder. Eur J Med Genet. 2017; 60(6): 312-316. doi:10.1016/j.ejmg.2017.03.012.

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    Academic Journal

    Πηγή: Neuromuscular Diseases; Том 13, № 3 (2023); 64-70 ; Нервно-мышечные болезни; Том 13, № 3 (2023); 64-70 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2023-13-3

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    Relation: https://nmb.abvpress.ru/jour/article/view/561/361; Bamshad M., Van Heest A.E., Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am 2009;91 Suppl 4(Suppl 4):40–6. DOI:10.2106/JBJS.I.00281; Oldfors A., Lamont P.J. Thick filament diseases. Adv Exp Med Biol 2008;642:78–91. DOI:10.1007/978-0-387-84847-1_7; Hall J.G., Kimber E., Dieterich K. Classification of arthrogryposis. Am J Med Genet C Semin Med Genet 2019;181(3):300–3. DOI:10.1002/ajmg.c.31716; Lowry R.B., Sibbald B., Bedard T., Hall J.G. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol 2010;88(12):1057–61. DOI:10.1002/bdra.20738; Hall J.G. Arthrogryposis multiplex congenita: etiology,genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B 1997;6:159–66.; Griffet J., Dieterich K., Bourg V., Bourgeois E. Amyoplasia and distal arthrogryposis. Orthop Traumatol Surg Res 2021;107(1S):102781. DOI:10.1016/j.otsr.2020.102781; Wahlig B., Poppino K., Jo C.H., Rathjen K. Arthrogryposis multiplex congenita: a 28-year retrospective study. Dev Med Child Neurol 2022;64(4):476–80. DOI:10.1111/dmcn.15084; Marianetti T.M., Dall'Asta L., Torroni A. et al. Trismus-pseudocamptodactyly syndrome: a 20 year follow-up. Eur J Paediatr Dent 2014;15(2 Suppl):218–20.; Haar B.G., van Hoof R.F. The trismus-pseudocampylodactyly syndrome. J Med Genet 1974;11(1):41–9. DOI:10.1136/jmg.11.1.41; Markus A.F. Limited mouth opening and shortened flexor muscletendon units: 'trismus-pseudocamptodactyly. Br J Oral Maxillofac Surg 1986;24(2):137–42. DOI:10.1016/0266-4356(86)90009-4; Hecht F., Beals R.K. Inability to open the mouth fully: an autosomal dominant phenotype with facultative camptodactyly and short stature. Birth Defects Orig Art Ser 1969;3:96–8.; Wilson R.V., Gaines D.L., Brooks A., Carter T.S., Nance W.E. Autosomal dominant inheritance of shortening of the flexor profundus muscle-tendon unit with limitation of jaw excursion. Birth Defects Orig Art Ser 1969;3:99–102.; Veugelers M., Bressan M., McDermott D.A. et al. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N Engl J Med 2004;351(5):460–9. DOI:10.1056/NEJMoa040584; Dai Z., Whitt Z., Mighion L.C. et al. Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder. Europ J Med Gen 2017;60(6):312–6. DOI:10.1016/j.ejmg.2017.03.012; Carlos R., Contreras E., Cabrera J. Trismus-pseudocamptodactyly syndrome (Hecht–Beals' syndrome): case report and literature review. Oral Dis 2005;11(3):186–9. DOI:10.1111/j.1601-0825.2005.01005.x; Tsukahara M., Shinozaki F., Kajii T. Trismus-pseudocamptodactyly syndrome in a Japanese family. Clin Genet 1985 Sep;28(3):247–50. DOI:10.1111/j.1399-0004.1985.tb00394.x; Toydemir R.M., Chen H., Proud V.K. et al. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A 2006,140:2387–93. DOI:10.1002/ajmg.a.31495; Teng R.J., Ho M.M., Wang P.J., Hwang K.C. Trismus-pseudocamptodctyly syndrome: report of one case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1994;35(2):144–7.; Sreenivasan P., Peedikayil F.C., Raj S.V., Meundi M.A. Trismus pseudocamptodactyly syndrome: a sporadic cause of trismus. Case Rep Den 2013;2013:1–3. DOI:10.1155/2013/187571; O'Brien P.J., Gropper P.T., Tredwell S.J., Hall J.G. Orthopaedic aspects of the trismus pseudocamptodactyly syndrome. J Pediatr Orthop 1984;4(4):469–71. DOI:10.1097/01241398-198408000-00016; Vaghadia H., Blackstock D. Anaesthetic implications of the trismus pseudocamptodactyly (Dutch–Kentucky or Hecht Beals) syndrome. Can J Anaesth 1988;35(1):80–5. DOI:10.1007/BF03010551; Bonapace G., Ceravolo F., Piccirillo A. et al. Germline mosaicism for the c.2021G>A(p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. Am J Med Genet A 2010;152A(11):2898–900. DOI:10.1002/ajmg.a.33671; Balkin D.M., Chen I., Oberoi S., Pomerantz J.H. Bilateral coronoidectomy by craniofacial approach for Hecht syndromerelated trismus. J Craniofac Surg 2015;26(6):1954–6. DOI:10.1097/SCS.0000000000002014; Schiaffino S., Rossi A.C., Smerdu V. et al. Developmental myosins: expression patterns and functional significance. Skelet Muscle 2015;5:22. DOI:10.1186/s13395-015-0046-6; https://nmb.abvpress.ru/jour/article/view/561

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  13. 13
    Academic Journal

    Περιγραφή αρχείου: application/pdf

    Relation: Клінічне спостереження за динамікою перебігу генералізованої форми артрогрипозу у дитини першого року життя / М. Є. Фесенко, В. І. Похилько, О. А. Щербань [та ін.] // Неонатологія, хірургія та перинатальна медицина. — 2016. — Т. 6, № 3. — С. 99—102.; https://repository.pdmu.edu.ua/handle/123456789/941

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