Search filters

List of works by Kei Takasawa

A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality

scientific article published on 04 October 2019

A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus

scientific article published on 16 November 2018

Abdominal paraganglioma in a young woman with 1p36 deletion syndrome

scientific article published on 24 October 2016

Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation

scientific article published on 04 December 2018

Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations

scientific article published on 08 August 2017

Clinical characteristics of adolescent cases with type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of INSR.

scientific article

Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan

scientific article published on 28 September 2017

Colonoscopic diagnosis and reduction of recurrent intussusception owing to Henoch-Schönlein purpura without purpura

scientific article published on 06 April 2018

Complications of Listeria meningitis in two immunocompetent children

scientific article published on 01 May 2018

FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice

scientific article published on 22 January 2014

Fibrocalculous pancreatic diabetes in a Japanese girl with severe motor and intellectual disabilities

scientific article published on 18 January 2016

Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases

scientific article published on 19 October 2019

Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome

scientific article published on 24 July 2019

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues

scientific journal article

Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy

scientific article published on 19 June 2015

Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan

scientific article published on 16 February 2018

Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life.

scientific article published on 10 July 2012

Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy.

scientific article

Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood

scientific article published on 23 January 2019

Longitudinal analysis of growth and body composition of Japanese 21-OHD patients in childhood.

scientific article

Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.

scientific article published on 19 August 2016

Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients

scientific article published on 24 May 2014

Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases

scientific article published on 9 February 2017

Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development

scientific article published in Scientific Reports

Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age.

scientific article published on 30 January 2018

Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review

scientific article published on 24 January 2018

Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young

scientific article published on 23 April 2019

Risk of coronary artery lesions in young infants with Kawasaki disease: need for a new diagnostic method.

scientific article published on 3 November 2017

Shared Decision-Making in Growth Hormone Therapy-Implications for Patient Care

scientific article published on 22 November 2018

Steroid-responsive Status Epilepticus Caused by Human Parvovirus B19 Encephalitis

scientific article published in February 2016

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice

scientific article

The progression of salt wasting and the body weight change during the first two weeks of life in classical 21-hydroxylase deficiency patients

scientific article published on 01 October 2020

Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus.

scientific article published on 24 April 2018

Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids

scientific article published on 16 January 2014

Type 1 Diabetes Mellitus Associated with Activated Phosphoinositide-3-kinase Delta Syndrome, Type 2.

scientific article published on 27 December 2017

WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome

scientific article published on 31 January 2019

Paulina is supported by:

About Paulina

Help