Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Christa E. Flück, T Tajima, Amit V. Pandey, +7

Nature Genetics

OxysterolMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +8

New reference values for thyroid volume by ultrasound in iodine-sufficient schoolchildren: a World Health Organization/Nutrition for Health and Development Iodine Deficiency Study Group Report

Michael Zimmermann, Sonja Y. Hess, Luciano Molinari, +10

American Journal of Clinical Nutrition

Thyroid VolumeIodine Deficiency DisordersThyroid DiseaseNutrition DevelopmentPediatrics +6

BodyParts3D: 3D structure database for anatomical concepts

N Mitsuhashi, Kenji Fujieda, Takuro Tamura, +3

Nucleic Acids Research

Human Anatomy3D ModelingAnatomical ModelDictionary-type DatabaseAnatomy +18

Heterozygous Mutation in the Cholesterol Side Chain Cleavage Enzyme (P450scc) Gene in a Patient with 46,XY Sex Reversal and Adrenal Insufficiency

Toshihiro Tajima, Kenji Fujieda, Naoya Kouda, +2

The Journal of Clinical Endocrinology & Metabolism

Heterozygous MutationGeneticsGynecologyMolecular GeneticsMetabolic Syndrome +16

High thyroid volume in children with excess dietary iodine intakes1–3

Michael Zimmermann, Yoshiya Ito, Sonja Y. Hess, +2

American Journal of Clinical Nutrition

NutritionIodine Deficiency DisordersThyroid DiseaseClinical NutritionPediatrics +6

Induction Chemotherapy Followed by Low-Dose Involved-Field Radiotherapy for Intracranial Germ Cell Tumors

Hidefumi Aoyama, Hiroki Shirato, Jun Ikeda, +3

Journal of Clinical Oncology

Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.

Kenji Fujieda, Toshihiro Tajima, Jun Nakae, +5

Journal of Clinical Investigation

Lipoid CahSpontaneous PubertyGynecologyOvarian SteroidogenesisDermatology +14

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder

Songya Pang, A. Campbell Clark, Eurico Camargo Neto, +58

Screening

Developmental AnomalyAdrenal GlandUrologyNewborn ScreeningCongenital Adrenal Hyperplasia +7

Induction chemotherapy followed by reduced-volume radiation therapy for newly diagnosed central nervous system germinoma

Yutaka Sawamura, Hiroki Shirato, Jun Ikeda, +5

Journal of neurosurgery

Etiology of Severe Sensorineural Hearing Loss in Children: Independent Impact of Congenital Cytomegalovirus Infection and<i>GJB2</i>Mutations

Hiroshi Ogawa, Tatsuo Suzutani, Yohko Baba, +6

The Journal of Infectious Diseases