Ayako Sasaki

Higashi Naruse Village
Higashi, Japan

Last Updated: 09/26/2026

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Found 16 publications

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?

Journal: Journal of human genetics

Published: May 10, 2025

Prediction Models for Retinopathy of Prematurity Using Nonimaging Machine Learning Approaches: A Regional Multicenter Study.

Prediction Models for Retinopathy of Prematurity Using Nonimaging Machine Learning Approaches: A Regional Multicenter Study.

Journal: Ophthalmology science

Published: May 08, 2024

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.

Journal: NPJ genomic medicine

Published: March 30, 2022

Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.

Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.

Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

Published: August 04, 2020

Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.

Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.

Journal: Journal of pediatric hematology/oncology

Published: December 03, 2019

Distinct Roles for Dectin-1 and Dectin-2 in Skin Wound Healing and Neutrophilic Inflammatory Responses.

Distinct Roles for Dectin-1 and Dectin-2 in Skin Wound Healing and Neutrophilic Inflammatory Responses.

Journal: The Journal of investigative dermatology

Published: October 26, 2019

Defect of Interferon γ Leads to Impaired Wound Healing through Prolonged Neutrophilic Inflammatory Response and Enhanced MMP-2 Activation.

Defect of Interferon γ Leads to Impaired Wound Healing through Prolonged Neutrophilic Inflammatory Response and Enhanced MMP-2 Activation.

Journal: International journal of molecular sciences

Published: September 27, 2019

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: July 15, 2018

A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.

A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.

Journal: European journal of medical genetics

Published: July 06, 2018

Pilot study: The application of a multicomponent exercise for older people in a depopulated rural area.

Pilot study: The application of a multicomponent exercise for older people in a depopulated rural area.

Journal: Geriatrics & gerontology international

Published: March 29, 2017

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

Journal: Journal of human genetics

Published: February 22, 2015

A novel ETFB mutation in a patient with glutaric aciduria type II.

A novel ETFB mutation in a patient with glutaric aciduria type II.

Journal: Human genome variation

Published: January 01, 2015

Showing 1-12 of 16

Last Updated: 09/26/2026