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Page 1
MBTPS2 mutation causes BRESEK/BRESHECK syndrome.
Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N. Naiki M, et al. Among authors: wakamatsu n. Am J Med Genet A. 2012 Jan;158A(1):97-102. doi: 10.1002/ajmg.a.34373. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105905
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N. Naiki M, et al. Among authors: wakamatsu n. Am J Med Genet A. 2014 May;164A(5):1180-7. doi: 10.1002/ajmg.a.36434. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664533
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. Yamada Y, et al. Among authors: wakamatsu n. Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715670
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.
Yamada K, Naiki M, Hoshino S, Kitaura Y, Kondo Y, Nomura N, Kimura R, Fukushi D, Yamada Y, Shimozawa N, Yamaguchi S, Shimomura Y, Miura K, Wakamatsu N. Yamada K, et al. Among authors: wakamatsu n. Mol Genet Metab Rep. 2014 Oct 16;1:455-460. doi: 10.1016/j.ymgmr.2014.10.003. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896122 Free PMC article.
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.
Yamada K, Yamada Y, Nomura N, Miura K, Wakako R, Hayakawa C, Matsumoto A, Kumagai T, Yoshimura I, Miyazaki S, Kato K, Sonta S, Ono H, Yamanaka T, Nagaya M, Wakamatsu N. Yamada K, et al. Among authors: wakamatsu n. Am J Hum Genet. 2001 Dec;69(6):1178-85. doi: 10.1086/324343. Epub 2001 Oct 2. Am J Hum Genet. 2001. PMID: 11592033 Free PMC article.
178 results