المؤلفون: Jiateng Zhou, Tong Zhang, Zhibo Wang, Dongdong Li, Xin Wu, Qinyuan Yu, Bin Wang

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: distal arthrogryposis, camptodactyly, clasped thumb, brace correction, retrospective study, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2024.1385938/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/2204fc10d0484979ab6b1fc53a8251c1Test

المؤلفون: Qing‐bing He, Cai‐hong Wu, Dong‐lan Sun, Jia‐yu Yuan, Hua‐ying Hu, Kai Yang, Wen‐qi Chen, You‐sheng Yan, Guang‐yue Yin, Jing Zhang, Ya‐zhou Li

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: contractures, pterygia, and spondylocarpotarsal fusion syndrome‐1B, distal arthrogryposis, functional assessment, MYH3 gene, whole‐exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/cd96c595951949e38729fc14258a8b2dTest

المؤلفون: ZHANG Haoran, ZHANG Jianguo

المصدر: 罕见病研究, Vol 2, Iss 4, Pp 607-610 (2023)

مصطلحات موضوعية: distal arthrogryposis, scoliosis, surgical treatment, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2097-0501Test

الوصول الحر: https://doaj.org/article/82c74b9ba81c42a7a52bea2aa076cf45Test

المؤلفون: Bita Hashemi, Richard J. Huntsman, Huan Li, Dapeng Zhang, Yanwei Xi

المصدر: Clinical Case Reports, Vol 11, Iss 7, Pp n/a-n/a (2023)

مصطلحات موضوعية: CLIFAHDD syndrome, distal arthrogryposis, NALCN gene, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/82640d172d23453f92b80690d340381dTest

المؤلفون: Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad

المصدر: HGG Advances, Vol 4, Iss 3, Pp 100213- (2023)

مصطلحات موضوعية: exome sequencing, Mendelian disease, Mendelian disorder, congenital contractures, distal arthrogryposis, cardiomyopathy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000453Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/08f67d5e060d475c83319e61695d173dTest

المؤلفون: Anik Biswas, Sudipta Deb Nath, Tamim Ahsan, M. Monir Hossain, Sharif Akhteruzzaman, Abu Ashfaqur Sajib

المصدر: Journal of Genetic Engineering and Biotechnology, Vol 20, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Distal arthrogryposis, Congenital contractures, Protein-protein interaction network, Titin, TTN, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-5920Test

الوصول الحر: https://doaj.org/article/8657437eb6ac4d17968180bec522e40aTest

المؤلفون: T. V. Kozhanova, S. S. Zhilina, T. I. Meshсheryakova, N. P. Prokopyeva, A. G. Prityko, N. N. Zavadenko

المصدر: Эпилепсия и пароксизмальные состояния, Vol 14, Iss 2, Pp 214-220 (2022)

مصطلحات موضوعية: distal arthrogryposis, freeman–sheldon syndrome, molecular karyotyping, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.epilepsia.su/jour/article/view/796Test; https://doaj.org/toc/2077-8333Test; https://doaj.org/toc/2311-4088Test

الوصول الحر: https://doaj.org/article/d61d98af154d4c0ca2e75248fdc73c27Test

المؤلفون: Ivana Dabaj, Robert Y. Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, Norma B. Romero, Wenting Trang, Susana Quijano-Roy, Dominique P. Germain

المصدر: Frontiers in Genetics, Vol 13 (2023)

مصطلحات موضوعية: Sheldon-hall syndrome, distal arthrogryposis type 2B, DA2B, TNNT3, neurogenic pattern, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.955041/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/3ae4d9f0200244718e5054798c47ea83Test

المؤلفون: Mostafa Neissi, Motahareh Sheikh-Hosseini, Javad Mohammadi-Asl, Adnan Issa Al-Badran

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-4 (2022)

مصطلحات موضوعية: TPM2 gene, Distal arthrogryposis type 1, Mutation, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-2441Test

الوصول الحر: https://doaj.org/article/44770f27999a4d7aae666fed106c13a2Test

المؤلفون: I. V. Sharkova, S. S. Nikitin, T. V. Markova, A. E. Voskanyan, E. A. Melnik, O. A. Shchagina, E. L. Dadali, И. В. Шаркова, С. С. Никитин, Т. В. Маркова, А. Э. Восканян, Е. А. Мельник, О. А. Щагина, Е. Л. Дадали

المصدر: 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

مصطلحات موضوعية: ген MYH8, distal arthrogryposis type 7, exome sequencing, MYH8 gene, дистальный артрогрипоз 7-го типа, секвенирование экзома

وصف الملف: application/pdf

العلاقة: https://nmb.abvpress.ru/jour/article/view/561/361Test; 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/561Test

الإتاحة: https://doi.org/10.17650/2222-8721-2023-13-3-64-69Test
https://doi.org/10.17650/2222-8721-2023-13-3Test
https://doi.org/10.2106/JBJS.I.00281Test
https://doi.org/10.1007/978-0-387-84847-1_7Test
https://doi.org/10.1002/ajmg.c.31716Test
https://doi.org/10.1002/bdra.20738Test
https://doi.org/10.1016/j.otsr.2020.102781Test
https://doi.org/10.1111/dmcn.15084Test
https://doi.org/10.1136/jmg.11.1.41Test
https://doi.org/10.1016/0266-4356Test(86)90009-4