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891 results

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Page 1
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Nakajima M, et al. Among authors: sugahara k. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664117 Free PMC article.
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S. Iida A, et al. Among authors: sugahara k. Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26. Hum Mutat. 2013. PMID: 23824674
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N, Costantini R, Seidl R, Greber-Platzer S, Yamada S, Müller T, Jilma B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K, Janecke AR. Vodopiutz J, et al. Among authors: sugahara k. Hum Mutat. 2017 Jan;38(1):34-38. doi: 10.1002/humu.23070. Epub 2016 Sep 22. Hum Mutat. 2017. PMID: 27599773
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: sugahara k. Hum Mutat. 2013 Dec;34(12):1708-14. doi: 10.1002/humu.22446. Epub 2013 Oct 15. Hum Mutat. 2013. PMID: 24115232
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Miyake N, et al. Among authors: sugahara k. Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300. Hum Mutat. 2010. PMID: 20533528
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I. Budde BS, et al. Among authors: sugahara k. Hum Genet. 2015 Jul;134(7):691-704. doi: 10.1007/s00439-015-1549-2. Epub 2015 Apr 19. Hum Genet. 2015. PMID: 25893793 Clinical Trial.
891 results