タイトル厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書

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厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書

発表者氏名論文タイトル名発表誌名巻号ページ出版年Kurosawa K, Enomoto K,Tominaga M, Furuya N,Sameshima K, Iai M, Take H,Shinkai M, Ishikawa H,Yamanaka M, Matsui M,Masuno M.Spastic quadriplegia in Downsyndrome with congenitalduodenal stenosis/atresia.Cong Anom 52 78-81 2012Kurosawa K, Masuno M,Kuroki Y.Trends in occurrence of twinbirths in Japan.Am J MedGenet Part A158A 75-77 2012Kurosawa K, Tanoshima-Takei Sirenomelia with a de novoM, Yamamoto T, Ishikawa H, balanced translocationMasuno M, Tanaka Y, 46,X,t(X;16)(p11.2;p12.3)Yamanaka M.Cong Anom 52 106-110 2012Enomoto K, Kishitani Y,Tominaga M, Ishikawa A,Furuya N, Aida N, Masun M,Yamada K, Kurosawa K.Expression Analysis of a 17pTerminal Deletion, includingYWHAE, but not PAFAH1B1,associated with normal brainstructure on MRI in a younggirl.Am J MedGenet Part A158A 2347-2352 2012Asakura Y, Muroya K, Sato T,Kurosawa K, Nishimura G,Adachi M.First case of a Japanese girlwith Myre syndrome due to aheterozygous SMAD4mutation.Am J MedGenet A.158 1982-6 2012Ozawa K, Ishikawa H,Maruyama Y, Nagata T,Nagase H, Itani Y, KurosawaK, Yamanaka M.Congenital omphalocele andpolyhydramnios: A study of 52cases.Fetal DiagnTher.30(3) 184-8 2011Hayashi S, Imoto I, Aizu Y, Clinical application of array- J HumOkamoto N, Mizuno S, based comparative genomic h Genet.Kurisawa K, Okamoto N, ybridization by two-stage scHonda S, Araki S, Mizutani S, reening for 536 patients witNumabe H, Saitoh S, Kosho T, h mental retardation andmulFukushima Y, Mitsubuchi H, tiple congenital anomal- ies.Endo F, Chinen Y, Kosaki R,Okuyama T, Ohki H,Yoshihashi H, Ono M, TakedaF, Ono H, Yagi M, MatsumotoH, Makita Y, Hata A, InazawaJ.56(2) 110-124 2011Nagase H, Ishikawa H, Prenatal management of thef Fetal PediatrNishikawa T, Kurisawa K, I etus with lethal malformatio Pathol.tani Y, Yamanaka M. n: from a study of oligohydramnios sequence.30(3) 145-149 201142