Lista de obras - Tomohiro Ishii - Dominio Público Uruguay

A Novel Case of Somatic KCNJ5 Mutation in Pediatric-Onset Aldosterone-Producing Adenoma.

artículo científico publicado en 2017

A case of mature teratoma with a falsely high serum estradiol value measured with an immunoassay.

artículo científico publicado en 2016

A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years

artículo científico publicado en 2014

A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus

artículo científico publicado en 2011

A genome-wide expression profile of adrenocortical cells in knockout mice lacking steroidogenic acute regulatory protein.

artículo científico publicado en 2012

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

artículo científico publicado en 2019

A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.

artículo científico publicado en 2010

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

artículo científico publicado en 2012

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

artículo científico publicado en 2014

A novel mutation of androgen receptor gene in complete androgen insensitivity syndrome

scientific article published on 17 May 2007

A pediatric case of insulinoma and a novel MEN1 mutation: the efficacy of the combination therapy of diazoxide and cornstarch

scientific article published on 31 July 2018

A rare association between Fabry's disease and granulomatosis with polyangiitis: a potential pathogenic link

artículo científico publicado en 2014

A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.

artículo científico publicado en 2013

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2

artículo científico publicado en 2014

Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome

artículo científico publicado en 2017

Adult phenylketonuria presenting with subacute severe neurologic symptoms

artículo científico publicado en 2015

Antenatal management of recurrent fetal goitrous hyperthyroidism associated with fetal cardiac failure in a pregnant woman with persistent high levels of thyroid-stimulating hormone receptor antibody after ablative therapy

scientific article published on 11 September 2013

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

artículo científico publicado en 2017

Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.

artículo científico publicado en 2015

Combination therapy of propranolol, levothyroxine, and liothyronine was effective in a case of severe consumptive hypothyroidism associated with infantile hepatic hemangioma

scientific article published on 31 January 2019

Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association

artículo científico publicado en 2017

Complex role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by bacterial artificial chromosome transgenesis in vivo.

artículo científico publicado en 2008

Cover Image, Volume 176A, Number 1, January 2018

artículo científico publicado en 2018

Digynic triploid infant surviving for 46 days.

artículo científico publicado en 1999

Discordant fetal phenotype of hypophosphatasia in two siblings.

artículo científico publicado en 2017

Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan

artículo científico publicado en 2016

Free form of insulin-like growth factor-I in circulation is normal in children with simple obesity

artículo científico publicado en 1998

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder

artículo científico publicado en 2018

Genetic defects in pediatric-onset adrenal insufficiency in Japan

artículo científico publicado en 2017

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.

artículo científico publicado en 2016

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 failure in an infant with congenital nephrogenic diabetes insipidus during sodium restriction

artículo científico publicado en 2007

Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision).

artículo científico publicado en 2015

Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)

artículo científico publicado en 2015

Heterozygous defects in PAX6 gene and congenital hypopituitarism

artículo científico publicado en 2014

Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents.

artículo científico publicado en 2015

Hypoglycemia associated with L-asparaginase in acute lymphoblastic leukemia treatment: a case report

artículo científico publicado en 2012

Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis.

artículo científico publicado en 2001

In Vivo Verification of the Pathophysiology of Lipoid Congenital Adrenal Hyperplasia in the Adrenal Cortex

scientific article published on 01 February 2019

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

artículo científico publicado en 2018

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

artículo científico publicado en 2018

Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature

scholarly article by Satoshi Narumi et al published 2018 in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients

artículo científico publicado en 2003

Micropenis and the AR Gene: mutation and CAG repeat-length analysis

artículo científico publicado en 2001

Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

artículo científico publicado en 2004

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake

artículo científico publicado en 2011

Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

artículo científico publicado en 2000

Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia

scientific article published on 01 May 2019

Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review

scientific article published on 16 May 2019

Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing

artículo científico publicado en 2013

Radiological evolution in IMAGe association: a case report

scientific article published on 01 August 2008

Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves' Disease

scientific article published on 09 August 2018

Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants

artículo científico publicado en 2014

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

artículo científico publicado en 2016

Severe hypertriglyceridemia during treatment of acute lymphoblastic leukemia associated with type III hyperlipoproteinemia.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis.

artículo científico publicado en 2004

The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development

artículo científico publicado en 2016

The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function

artículo científico publicado en 2014

The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias

artículo científico publicado en 2010

The roles of circulating high-density lipoproteins and trophic hormones in the phenotype of knockout mice lacking the steroidogenic acute regulatory protein

artículo científico publicado en 2002

The steroidogenic acute regulatory protein is expressed in steroidogenic cells of the day-old brain.

artículo científico publicado en 2004

Treatment with a gonadotropin-releasing-hormone analog and attainment of full height potential in a male monozygotic twin with gonadotropin-releasing hormone-dependent precocious puberty

artículo científico publicado en 1999

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia.

artículo científico publicado en 2018

Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene.

artículo científico publicado en 2001

Utility of fractional excretion of urea in the differential diagnosis of acute kidney injury in children

artículo científico publicado en 2016

Lista de obras de Tomohiro Ishii

A Novel Case of Somatic KCNJ5 Mutation in Pediatric-Onset Aldosterone-Producing Adenoma.

A case of mature teratoma with a falsely high serum estradiol value measured with an immunoassay.

A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years

A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus

A genome-wide expression profile of adrenocortical cells in knockout mice lacking steroidogenic acute regulatory protein.

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

A novel mutation of androgen receptor gene in complete androgen insensitivity syndrome

A pediatric case of insulinoma and a novel MEN1 mutation: the efficacy of the combination therapy of diazoxide and cornstarch

A rare association between Fabry's disease and granulomatosis with polyangiitis: a potential pathogenic link

A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2

Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome

Adult phenylketonuria presenting with subacute severe neurologic symptoms

Antenatal management of recurrent fetal goitrous hyperthyroidism associated with fetal cardiac failure in a pregnant woman with persistent high levels of thyroid-stimulating hormone receptor antibody after ablative therapy

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

Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.

Combination therapy of propranolol, levothyroxine, and liothyronine was effective in a case of severe consumptive hypothyroidism associated with infantile hepatic hemangioma

Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association

Complex role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by bacterial artificial chromosome transgenesis in vivo.

Cover Image, Volume 176A, Number 1, January 2018

Digynic triploid infant surviving for 46 days.

Discordant fetal phenotype of hypophosphatasia in two siblings.

Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan

Free form of insulin-like growth factor-I in circulation is normal in children with simple obesity

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder

Genetic defects in pediatric-onset adrenal insufficiency in Japan

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.

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 failure in an infant with congenital nephrogenic diabetes insipidus during sodium restriction

Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision).

Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)

Heterozygous defects in PAX6 gene and congenital hypopituitarism

Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents.

Hypoglycemia associated with L-asparaginase in acute lymphoblastic leukemia treatment: a case report

Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis.

In Vivo Verification of the Pathophysiology of Lipoid Congenital Adrenal Hyperplasia in the Adrenal Cortex

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

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature

Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients

Micropenis and the AR Gene: mutation and CAG repeat-length analysis

Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake

Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia

Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review

Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing

Radiological evolution in IMAGe association: a case report

Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves' Disease

Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Severe hypertriglyceridemia during treatment of acute lymphoblastic leukemia associated with type III hyperlipoproteinemia.

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

Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis.

The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development

The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function

The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias

The roles of circulating high-density lipoproteins and trophic hormones in the phenotype of knockout mice lacking the steroidogenic acute regulatory protein

The steroidogenic acute regulatory protein is expressed in steroidogenic cells of the day-old brain.

Treatment with a gonadotropin-releasing-hormone analog and attainment of full height potential in a male monozygotic twin with gonadotropin-releasing hormone-dependent precocious puberty

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia.

Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene.

Utility of fractional excretion of urea in the differential diagnosis of acute kidney injury in children