Manami Iso

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<i>LHX4</i>Deletion

Sumito Dateki, Maki Fukami, Ayumi Uematsu et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 53 citations

Life Sciences, Genetics, Molecular Genetics +17

GATA3 abnormalities in six patients with HDR syndrome

Maki Fukami, Koji Muroya, Tetsuo Miyake et al. · Endocrine Journal · 2011 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

<i>SOX10</i> mutation in Waardenburg syndrome type II

Manami Iso, Maki Fukami, Reiko Horikawa et al. · American Journal of Medical Genetics Part A · 2008 · 31 citations

Life Sciences, Genetics, Molecular Genetics +10

Submicroscopic deletion involving the &lt;i&gt;fibroblast growth factor receptor 1&lt;/i&gt; gene in a patient with combined pituitary hormone deficiency

Maki Fukami, Manami Iso, Naoko Sato et al. · Endocrine Journal · 2013 · 19 citations · Full text

Medicine, Endocrinology, Molecular Genetics +16

Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation

Yoko Izumi, Ikuma Musha, Erina Suzuki et al. · Endocrine · 2014 · 18 citations

Medicine, Endocrinology, Genetics +12