Publications by authors named "Manami Iso"

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Relationship between infantile mother preference and neural regions activated by maternal contact in C57BL/6 mice.
Kie Shimizu, Rieko Tanaka, Manami Iso, Kazuki Harada, Takashi Tsuboi

Neurosci Res· May 2022

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A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
Kumiko Yanagi, Noriko Morimoto, Manami Iso, Yukimi Abe, Kohji Okamura

J Hum Genet· October 2021

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The gene variants in Japanese children with idiopathic pancreatitis.
Manami Iso, Mitsuyoshi Suzuki, Kumiko Yanagi, Kei Minowa, Yumiko Sakurai

Hum Genome Var· April 2019

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A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features.
Akihisa Okumura, Koichi Maruyama, Mami Shibata, Hirokazu Kurahashi, Atsushi Ishii, Manami Iso

Brain Dev· November 2018

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An unclassified variant of activates a cryptic splice site in a patient with CHARGE syndrome.
Yuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, Atsushi Hattori, Akie Nakamura, Manami Iso

Hum Genome Var· March 2018

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Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.
Yoko Izumi, Ikuma Musha, Erina Suzuki, Manami Iso, Tomoko Jinno

Endocrine· June 2015

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Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.
Maki Fukami, Manami Iso, Naoko Sato, Maki Igarashi, Misuzu Seo

Endocr J· March 2014

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GATA3 abnormalities in six patients with HDR syndrome.
Maki Fukami, Koji Muroya, Tetsuo Miyake, Manami Iso, Fumiko Kato

Endocr J· July 2011

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Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
Sumito Dateki, Maki Fukami, Ayumi Uematsu, Masayuki Kaji, Manami Iso

J Clin Endocrinol Metab· August 2010

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Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.
Koji Muroya, Takahiro Mochizuki, Maki Fukami, Manami Iso, Keinosuke Fujita

Endocr J· June 2010

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SOX10 mutation in Waardenburg syndrome type II.
Manami Iso, Maki Fukami, Reiko Horikawa, Noriyuki Azuma, Nobuko Kawashiro

Am J Med Genet A· August 2008

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