Publications by authors named "Emi Utsuno"

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Evaluation of analytical factors associated with targeted MEFV gene sequencing using long-range PCR/massively parallel sequencing of whole blood DNA for molecular diagnosis of Familial Mediterranean fever.
Takayuki Ishige, Sakae Itoga, Kenji Kawasaki, Emi Utsuno, Minako Beppu

Clin Chim Acta· August 2019

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Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia.
Takayuki Ishige, Sakae Itoga, Emi Utsuno, Motoi Nishimura, Masaharu Yoshikawa

J Med Genet· October 2018

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A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii

BMC Med Genet· June 2017

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Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.
Somayeh Ahmadloo, Hirofumi Nakaoka, Takahide Hayano, Kazuyoshi Hosomichi, Hua You, Emi Utsuno

J Hum Genet· April 2017

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Serous tubal intraepithelial carcinoma in a Japanese woman with a deleterious BRCA1 mutation.
Hiroshi Ishikawa, Takako Kiyokawa, Emi Utsuno, Kazuyuki Matsushita, Fumio Nomura

Jpn J Clin Oncol· June 2014

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Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31.
Takayuki Ishige, Setsu Sawai, Sakae Itoga, Kenichi Sato, Emi Utsuno

J Hum Genet· December 2012

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High-resolution melting analyses for gene scanning of APC, MLH1, MSH2, and MSH6 associated with hereditary colorectal cancer.
Jurat Obul, Sakae Itoga, Maynur Abliz, Kenichi Sato, Takayuki Ishige, Emi Utsuno

Genet Test Mol Biomarkers· May 2012

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[Role of the hospital laboratory and medical technologists in genetic medical services].
Fumio Nomura, Emi Utsuno

Rinsho Byori· August 2009

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A patient with early onset Huntington disease and severe cerebellar atrophy.
Satoru Sakazume, Satoshi Yoshinari, Eiji Oguma, Emi Utsuno, Takuma Ishii

Am J Med Genet A· February 2009

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