Search Results - "Saitsu H"

Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.

Authors: Tadaki, H. Saitsu, H. Kanegane, H. et al.

Source: International Journal of Immunogenetics. Aug2011, Vol. 38 Issue 4, p287-293. 7p. 1 Black and White Photograph, 2 Diagrams, 2 Charts, 1 Graph.

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome.

Authors: Saitsu, H Kato, M Shimono, M et al.

Source: Clinical Genetics. Apr2012, Vol. 81 Issue 4, p399-402. 4p.

Paternal mosaicism of an STXBP1 mutation in OS.

Authors: Saitsu, H Hoshino, H Kato, M et al.

Source: Clinical Genetics. Nov2011, Vol. 80 Issue 5, p484-488. 5p. 1 Diagram, 2 Graphs.

Alu-related 5q35 microdeletions in Sotos syndrome.

Authors: Mochizuki, J Saitsu, H Mizuguchi, T et al.

Source: Clinical Genetics. Oct2008, Vol. 74 Issue 4, p384-391. 8p. 2 Diagrams, 2 Charts, 1 Graph.

224 TREATMENT BY INTRAOPERATIVE MICROWAVE ABLATION (MCN) ACHIEVED 70% OF 5-YEAR SURVIVAL RATE FOR HCC WITHIN MILAN CRITERIA: MCN AS AN ALTERNATIVE TO LIVER TRANSPLANTATION

Authors: Takami, Y. Saitsu, H. Tateishi, M. et al.

Source: Journal of Hepatology. Apr2012 Supplement, Vol. 56 Issue s2, pS94-S95. 0p.

Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel.

Authors: Kunii, M. Doi, H. Ishii, Y. et al.

Source: Clinical Genetics. Aug2018, Vol. 94 Issue 2, p232-238. 7p. 1 Black and White Photograph, 2 Charts.

Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.

Authors: Yoshida, M. Nakashima, M. Okanishi, T. et al.

Source: Clinical Genetics. Feb2018, Vol. 93 Issue 2, p368-373. 7p. 1 Color Photograph, 1 Chart, 1 Graph.

Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy.

Authors: Tsuchida, N. Nakashima, M. Miyauchi, A. et al.

Source: Clinical Genetics. Feb2018, Vol. 93 Issue 2, p266-274. 10p. 1 Color Photograph, 2 Black and White Photographs, 1 Diagram, 1 Chart, 1 Graph.

Characterization of SPATA5-related encephalopathy in early childhood.

Authors: Kurata, H. Terashima, H. Nakashima, M. et al.

Source: Clinical Genetics. Nov2016, Vol. 90 Issue 5, p437-444. 9p. 3 Black and White Photographs, 1 Graph.

Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Authors: Fujita, A. Waga, C. Hachiya, Y. et al.

Source: Clinical Genetics. Sep2016, Vol. 90 Issue 3, p276-281. 6p.

Delineation of clinical features in Wiedemann--Steiner syndrome caused by KMT2A mutations.

Authors: Miyake, N. Tsurusaki, Y. Koshimizu, E. et al.

Source: Clinical Genetics. Jan2016, Vol. 89 Issue 1, p115-119. 5p.

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.

Authors: Kodera, H. Ando, N. Yuasa, I. et al.

Source: Clinical Genetics. May2015, Vol. 87 Issue 5, p455-460. 6p. 1 Black and White Photograph, 1 Diagram, 1 Graph.

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

Authors: Nakajima, J. Okamoto, N. Tohyama, J. et al.

Source: Clinical Genetics. Apr2015, Vol. 87 Issue 4, p356-361. 6p. 1 Color Photograph, 1 Diagram, 1 Chart.

Coffin-Siris syndrome is a SWI/ SNF complex disorder.

Authors: Tsurusaki, Y. Okamoto, N. Ohashi, H. et al.

Source: Clinical Genetics. Jun2014, Vol. 85 Issue 6, p548-554. 7p.

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.

Authors: Tsurusaki, Y Kosho, T Hatasaki, K et al.

Source: Clinical Genetics. Feb2013, Vol. 83 Issue 2, p135-144. 10p. 1 Color Photograph, 2 Diagrams, 2 Charts.

A novel homozygous mutation of DARS2 may cause a severe LBSL variant.

Authors: Miyake, N. Yamashita, S. Kurosawa, K. et al.

Source: Clinical Genetics. Sep2011, Vol. 80 Issue 3, p293-296. 4p. 1 Chart, 1 Graph.

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.

Authors: Tsurusaki, Y. Okamoto, N. Suzuki, Y. et al.

Source: Clinical Genetics. Aug2011, Vol. 80 Issue 2, p161-166. 6p. 2 Diagrams, 1 Chart.

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.

Authors: Zaha, K. Matsumoto, H. Itoh, M. et al.

Source: Clinical Genetics. Nov2016, Vol. 90 Issue 5, p472-474. 3p. 1 Graph.

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.

Authors: Miyatake, S. Tada, H. Moriya, S. et al.

Source: Clinical Genetics. Apr2015, Vol. 87 Issue 4, p395-397. 3p. 1 Diagram, 1 Chart.

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

Authors: Tsurusaki, Y. Yonezawa, R. Furuya, M. et al.

Source: Clinical Genetics. Jun2014, Vol. 85 Issue 6, p592-594. 3p.