Erina Suzuki

Tokyo, Japan

Last Updated: 09/26/2026

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Found 40 publications

Early Pubertal Progression and Increased 11-Oxygenated Androgens in a Girl with Wiedemann-Steiner Syndrome and a KMT2A Variant: A Case Report.

Early Pubertal Progression and Increased 11-Oxygenated Androgens in a Girl with Wiedemann-Steiner Syndrome and a KMT2A Variant: A Case Report.

Journal: Molecular syndromology

Published: January 29, 2026

De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome.

De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome.

Journal: Case reports in endocrinology

Published: February 10, 2025

De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report.

De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report.

Journal: Frontiers in endocrinology

Published: January 23, 2025

Kallmann Syndrome due to Balanced X Chromosomal Pericentric Inversion Disrupting ANOS1.

Kallmann Syndrome due to Balanced X Chromosomal Pericentric Inversion Disrupting ANOS1.

Journal: Cytogenetic and genome research

Published: January 21, 2025

DNA methylation changes in the genome of patients with hypogonadotropic hypogonadism.

DNA methylation changes in the genome of patients with hypogonadotropic hypogonadism.

Journal: Heliyon

Published: May 29, 2024

Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1.

Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1.

Journal: Cytogenetic and genome research

Published: February 29, 2024

CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report.

CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: January 09, 2024

Genetic variants of G-protein coupled receptors associated with pubertal disorders.

Genetic variants of G-protein coupled receptors associated with pubertal disorders.

Journal: Reproductive medicine and biology

Published: January 30, 2023

Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements.

Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements.

Journal: Clinical epigenetics

Published: March 11, 2021

Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.

Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.

Journal: Journal of human genetics

Published: March 09, 2021

SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.

SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.

Journal: Journal of the Endocrine Society

Published: February 01, 2021

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism.

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism.

Journal: Human genome variation

Published: October 19, 2020

Showing 1-12 of 40

Last Updated: 09/26/2026