Takaya Nakane

Chuo, 4093898, Japan

Last Updated: 09/26/2026

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Found 24 publications

Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.

Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.

Journal: DEN open

Published: October 07, 2025

Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy.

Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy.

Journal: Children (Basel, Switzerland)

Published: February 01, 2023

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Journal: Journal of medical genetics

Published: November 29, 2020

A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset.

A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset.

Journal: Pediatrics and neonatology

Published: June 28, 2019

Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases.

Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases.

Journal: Case reports in psychiatry

Published: April 02, 2019

GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review.

GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review.

Journal: Endocrine journal

Published: March 01, 2019

Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency.

Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency.

Journal: Pediatrics and neonatology

Published: July 01, 2018

Penetrating craniocerebral injury by chopsticks in a Japanese boy confirmed by combined brain computed tomography and magnetic resonance imaging.

Penetrating craniocerebral injury by chopsticks in a Japanese boy confirmed by combined brain computed tomography and magnetic resonance imaging.

Journal: Pediatrics and neonatology

Published: June 05, 2018

Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.

Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.

Journal: American journal of medical genetics. Part A

Published: December 18, 2017

Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome.

Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome.

Journal: Clinical dysmorphology

Published: July 27, 2017

Marked pleural effusion after i.v. immunoglobulin therapy for Kawasaki disease.

Marked pleural effusion after i.v. immunoglobulin therapy for Kawasaki disease.

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

Published: March 31, 2017

Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.

Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 28, 2017

Showing 1-12 of 24

Last Updated: 09/26/2026