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List of works by Yumi Asakura

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

scientific article published in April 1999

A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).

scientific article published on January 2006

A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification

scientific article published on 01 July 2010

Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy.

scientific article published on 26 October 2013

Abnormal basiocciput development in CHARGE syndrome

scientific article published on 26 December 2008

Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase

article

Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach

scientific article published in November 2017

Bone marrow transplantation in Schimke immuno-osseous dysplasia

scientific article published on 15 August 2013

Classic Bartter syndrome complicated with profound growth hormone deficiency

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

scientific article published on 16 June 2015

Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.

scientific article published on 19 August 2015

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

scientific article

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

scientific article

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features

scientific article published on 01 March 2000

Dental abnormalities in Schimke immuno-osseous dysplasia.

scientific article

Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature

scientific article published on 10 May 2014

Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a.

scientific article published on January 2009

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome

scientific article published on 18 December 2007

Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening.

scientific article

First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation

scientific article published on 18 June 2012

Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndrome

scientific article published on 01 March 2003

Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: molecular analysis in four patients

scientific article published on 01 May 1999

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism

scientific article

Growth hormone response to GH-releasing peptide-2 in children

scientific article published on 01 May 2010

Heterozygous defects in PAX6 gene and congenital hypopituitarism

scientific article published on 23 October 2014

Hypothalamo-pituitary hypothyroidism detected by neonatal screening for congenital hypothyroidism using measurement of thyroid-stimulating hormone and thyroxine.

scientific article

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

scientific article

Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations.

scientific article published on 04 September 2012

Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients

scientific article published on 07 September 2011

Myhre syndrome: a rare craniofacial disorder

scientific article published on 30 June 2014

Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis

scientific article published on 01 February 2014

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1

scientific article published on 12 November 2007

Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.

scientific article

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

scientific article published on 18 April 2013

Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement

scientific article published on 02 August 2014

PAX8 mutation disturbing thyroid follicular growth: a case report

scientific article

POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait

Partial lipodystrophy in patients who have undergone hematopoietic stem cell transplantation during childhood: an institutional cross-sectional survey

scientific article

Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report

scientific article published on 08 June 2015

Prevalence of obesity, hyperlipemia and insulin resistance in children with suprasellar brain tumors.

scientific article published on 07 December 2007

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

scientific article published on 4 June 2015

Schimke immunoosseous dysplasia: defining skeletal features

scientific article published on 15 December 2009

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

scientific article published in March 2007

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis

scientific article published on 17 March 2016

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study

scientific article published on 21 January 2009

The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism.

scientific article published on 8 July 2015

Therapeutic use of oral sodium phosphate (phosribbon(®) combination granules) in hereditary hypophosphatemic rickets.

scientific article published on January 2014

Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets

scientific article published on 01 October 2000

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.

scientific article published on 15 February 2010

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