Makiko Tominaga

Yokohama, Japan

Last Updated: 09/26/2026

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Found 15 publications

Kawasaki Disease in a Child With Trisomy 18 Treated With Initial Combination Therapy, Including Cyclosporine.

Kawasaki Disease in a Child With Trisomy 18 Treated With Initial Combination Therapy, Including Cyclosporine.

Journal: Case reports in pediatrics

Published: December 07, 2025

Co-Occurrence of Osteogenesis Imperfecta Type III and Chronic Abruption-Oligohydramnios Sequence: A Case Report Suggesting a Possible Role of Type I Collagen Fragility.

Co-Occurrence of Osteogenesis Imperfecta Type III and Chronic Abruption-Oligohydramnios Sequence: A Case Report Suggesting a Possible Role of Type I Collagen Fragility.

Journal: The journal of obstetrics and gynaecology research

Published: October 22, 2025

Clinical features of syndromic microphthalmia in two novel RARB variants.

Clinical features of syndromic microphthalmia in two novel RARB variants.

Journal: Human genome variation

Published: October 05, 2025

Maternal copy number variations detected by noninvasive prenatal testing in Japanese women.

Maternal copy number variations detected by noninvasive prenatal testing in Japanese women.

Journal: Journal of human genetics

Published: September 09, 2025

Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan.

Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan.

Journal: Journal of human genetics

Published: July 25, 2025

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Journal: Clinical genetics

Published: November 04, 2021

LAMA1 variants were identified Joubert syndrome patient.

LAMA1 variants were identified Joubert syndrome patient.

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

Published: May 26, 2021

A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.

A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.

Journal: Molecular syndromology

Published: September 19, 2020

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Journal: American journal of medical genetics. Part A

Published: March 26, 2020

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5.

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5.

Journal: Human genome variation

Published: June 15, 2019

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13.

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13.

Journal: Congenital anomalies

Published: February 22, 2019

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Journal: American journal of medical genetics. Part A

Published: September 05, 2013

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Last Updated: 09/26/2026