Yuko Fukui-Katoh

Tokyo, Japan

Last Updated: 09/26/2026

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Found 26 publications

GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia.

GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia.

Journal: Clinical genetics
Published: April 24, 2026

A Hemizygous MED12 Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case Report.

A Hemizygous MED12 Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case Report.

Journal: Hormone research in paediatrics
Published: October 03, 2025

Association between repeat number polymorphisms of sex hormone-related genes and gender phenotype variations in university students.

Association between repeat number polymorphisms of sex hormone-related genes and gender phenotype variations in university students.

Journal: Sexual medicine
Published: May 02, 2025

Maternal Microchimerism Is Uncommon in Patients with Hypospadias.

Maternal Microchimerism Is Uncommon in Patients with Hypospadias.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: March 18, 2025

DHX37 variants in patients with 46,XY disorders or differences of sex development.

DHX37 variants in patients with 46,XY disorders or differences of sex development.

Journal: Human genome variation
Published: December 24, 2024

Compound heterozygous KCTD19 variants in a man with isolated nonobstructive azoospermia.

Compound heterozygous KCTD19 variants in a man with isolated nonobstructive azoospermia.

Journal: Reproductive medicine and biology
Published: July 21, 2024

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.

Journal: Human genome variation
Published: May 28, 2024

PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: November 23, 2023

Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes.

Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes.

Journal: Scientific reports
Published: July 26, 2023

Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.

Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.

Journal: Human reproduction (Oxford, England)
Published: June 13, 2023

Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.

Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.

Journal: Human molecular genetics
Published: February 16, 2023

POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.

POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.

Journal: Endocrinology
Published: May 18, 2022
Showing 1-12 of 26

Last Updated: 09/26/2026