Lista de obras - Yumi Asakura - Dominio Público Uruguay

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.

artículo científico publicado en 1999

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

artículo científico

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.

artículo científico publicado en 2013

Abnormal basiocciput development in CHARGE syndrome

artículo científico publicado en 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

artículo científico publicado en 2017

Bone marrow transplantation in Schimke immuno-osseous dysplasia

artículo científico publicado en 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.

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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.

artículo científico publicado en 2012

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

artículo científico

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

artículo científico publicado en 2009

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Heterozygous defects in PAX6 gene and congenital hypopituitarism

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Myhre syndrome: a rare craniofacial disorder

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

PAX8 mutation disturbing thyroid follicular growth: a case report

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

Schimke immunoosseous dysplasia: defining skeletal features

artículo científico publicado en 2009

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

artículo científico publicado en 2007

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2000

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

artículo científico publicado en 2010

Lista de obras de 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.

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

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

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

Abnormal basiocciput development in CHARGE syndrome

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

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

Bone marrow transplantation in Schimke immuno-osseous dysplasia

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.

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

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

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

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

Dental abnormalities in Schimke immuno-osseous dysplasia.

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

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

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome

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

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

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

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

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

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

Heterozygous defects in PAX6 gene and congenital hypopituitarism

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

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

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

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

Myhre syndrome: a rare craniofacial disorder

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

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

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

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

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

PAX8 mutation disturbing thyroid follicular growth: a case report

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

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

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

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

Schimke immunoosseous dysplasia: defining skeletal features

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

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

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

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.

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

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

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