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Itsuro Hibi

Boston Children's Hospital

112

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High‐resolution cytogenetic studies in patients with Prader‐Willi syndrome

2008 Clinical Genetics
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Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia

1998 Human Mutation
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A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online.

1998 Human Mutation
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Timing for Discontinuation of Treatment with a Long-Acting Gonadotropin-Releasing Hormone Analog in Girls with Central Precocious Puberty

1998 Endocrine Journal
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Urinary Excretion of Pyridinoline and Deoxypyridinoline in Children

1998 Clinical Pediatric Endocrinology
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A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online.

1998 Human Mutation
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Nutrition Related Hormonal Changes in Obese Children.

1998 Endocrine Journal
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A New Compound Heterozygous Mutation in the 11β-Hydroxysteroid Dehydrogenase Type 2 Gene in a Case of Apparent Mineralocorticoid Excess

1997 The Journal of Clinical Endocrinology and Metabolism
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Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia.

1997 Endocrine Journal
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Dose of LHRH Analog and Growth Velocity Influence Predicted Final Height in Girls with Central Precocious Puberty

1997 Clinical Pediatric Endocrinology
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