Lista de obras - Keisuke Nagasaki - Dominio Público Uruguay

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

artículo científico publicado en 2017

A case of female pseudohermaphroditism caused by aromatase deficiency.

scientific article published on 07 July 2004

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

artículo científico publicado en 2011

A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.

artículo científico publicado en 2013

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1.

artículo científico publicado en 2016

A study of the etiology of congenital hypothyroidism in the Niigata prefecture of Japan in patients born between 1989 and 2005 and evaluated at ages 5-19

artículo científico publicado en 2011

A study of the etiology of transient congenital hypothyroidism in Niigata Prefecture, Japan

Aromatase excess syndrome in a family with upstream deletion of CYP19A1

artículo científico publicado en 2013

Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia

artículo científico publicado en 2014

Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Autonomously functioning thyroid nodule in a four-year-old boy with Sotos syndrome

artículo científico publicado en 2011

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

artículo científico publicado en 2016

Childbirth and fertility preservation in childhood and adolescent cancer patients: a second national survey of Japanese pediatric endocrinologists

artículo científico publicado en 2017

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

artículo científico publicado en 2016

Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.

artículo científico publicado en 2014

Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome

artículo científico publicado en 2017

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

artículo científico publicado en 2016

Criteria of radiological diagnosis for neonates with hypochondroplasia.

artículo científico publicado en 2015

Different skeletal phenotypes in a mother and two daughters with short stature homeobox-containing haploinsufficiency.

artículo científico publicado en 2007

Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.

artículo científico publicado en 2015

Evaluation of parathyroid gland function using sodium bicarbonate infusion test for 22q11.2 deletion syndrome

artículo científico publicado en 2010

Formulation for Effective Screening and Management of Nonalcoholic Steatohepatitis: Noninvasive NAFLD Management Strategy.

artículo científico publicado en 2016

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis

artículo científico publicado en 2019

Gonadal function, fertility, and reproductive medicine in childhood and adolescent cancer patients: a national survey of Japanese pediatric endocrinologists

artículo científico publicado en 2016

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

H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency

artículo científico publicado en 2009

Heterozygous defects in PAX6 gene and congenital hypopituitarism

artículo científico publicado en 2014

Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency

artículo científico publicado en 2015

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

Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan

artículo científico publicado en 2018

Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.

artículo científico publicado en 2017

Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.

artículo científico publicado en 2013

Longitudinal growth of the short bones of the hand in a girl with pseudohypoparathyroidism type ia.

artículo científico publicado en 2007

Low adiponectin state is associated with metabolic abnormalities in obese children, particularly depending on apolipoprotein E phenotype.

artículo científico publicado en 2008

Lower birth weight and visceral fat accumulation are related to hyperinsulinemia and insulin resistance in obese Japanese children.

artículo científico publicado en 2005

Metabolic effects of growth hormone replacement in two pediatric patients with growth without growth hormone.

artículo científico publicado en 2010

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.

artículo científico publicado en 2010

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.

artículo científico publicado en 2015

Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.

artículo científico publicado en 2016

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.

artículo científico publicado en 2017

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.

artículo científico publicado en 2018

Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty.

artículo científico publicado en 2010

Obese Japanese children have low bone mineral density after puberty.

artículo científico publicado en 2004

Occipitocervical Fusion for Severe Atlantoaxial Dislocation in an Underdeveloped Child with Chondrodysplasia Punctata: A Case Report

artículo científico publicado en 2017

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

artículo científico publicado en 2012

PTEN mutation in a Japanese boy with autonomously functioning thyroid nodule.

artículo científico publicado en 2017

Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.

artículo científico publicado en 2012

Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney-urinary tract in pediatric Turner syndrome

scientific article published on 08 July 2020

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

artículo científico publicado en 2017

Shear wave velocity is a useful marker for managing nonalcoholic steatohepatitis

artículo científico publicado en 2010

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.

artículo científico publicado en 2014

Spontaneous regression of isolated neurohypophyseal langerhans cell histiocytosis with diabetes insipidus.

artículo científico publicado en 2009

Successful Combined Treatment for Atrophic Thyroiditis With Growth Hormone Deficiency

artículo científico publicado en 2016

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

artículo científico publicado en 2017

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.

artículo científico publicado en 2015

The levels of serum low-density lipoprotein cholesterol using direct measurement in healthy Japanese school children

artículo científico publicado en 2004

The occurrence of neonatal acute respiratory disorders in 21-hydroxylase deficiency.

artículo científico publicado en 2011

Thyroid-stimulating hormone (thyrotropin)-secretion pituitary adenoma in an 8-year-old boy: case report

artículo científico publicado en 2012

Two cases of 22q11.2 deletion syndrome with anorectal anomalies and growth retardation

scientific article published on 01 January 2011

Two cases of pseudohypoparathyroidism type ia in duozygotic twins with different phenotypes

artículo científico publicado en 2005

Usefulness of serum adiponectin level as a diagnostic marker of metabolic syndrome in obese Japanese children

artículo científico publicado en 2005

Virilizing Adrenocortical Carcinoma Invading the Right Atrium with Histological High-Grade Malignancy and p53 Mutation in a 3-Year-Old Child: Indication of Post Operative Adjuvant Chemotherapy

artículo científico publicado en 2004

Lista de obras de Keisuke Nagasaki

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

A case of female pseudohermaphroditism caused by aromatase deficiency.

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

A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1.

A study of the etiology of congenital hypothyroidism in the Niigata prefecture of Japan in patients born between 1989 and 2005 and evaluated at ages 5-19

A study of the etiology of transient congenital hypothyroidism in Niigata Prefecture, Japan

Aromatase excess syndrome in a family with upstream deletion of CYP19A1

Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia

Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.

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

Autonomously functioning thyroid nodule in a four-year-old boy with Sotos syndrome

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Childbirth and fertility preservation in childhood and adolescent cancer patients: a second national survey of Japanese pediatric endocrinologists

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

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

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.

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.

Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

Criteria of radiological diagnosis for neonates with hypochondroplasia.

Different skeletal phenotypes in a mother and two daughters with short stature homeobox-containing haploinsufficiency.

Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.

Evaluation of parathyroid gland function using sodium bicarbonate infusion test for 22q11.2 deletion syndrome

Formulation for Effective Screening and Management of Nonalcoholic Steatohepatitis: Noninvasive NAFLD Management Strategy.

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis

Gonadal function, fertility, and reproductive medicine in childhood and adolescent cancer patients: a national survey of Japanese pediatric endocrinologists

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

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

H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency

Heterozygous defects in PAX6 gene and congenital hypopituitarism

Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency

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

Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan

Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.

Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.

Longitudinal growth of the short bones of the hand in a girl with pseudohypoparathyroidism type ia.

Low adiponectin state is associated with metabolic abnormalities in obese children, particularly depending on apolipoprotein E phenotype.

Lower birth weight and visceral fat accumulation are related to hyperinsulinemia and insulin resistance in obese Japanese children.

Metabolic effects of growth hormone replacement in two pediatric patients with growth without growth hormone.

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.

Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.

Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty.

Obese Japanese children have low bone mineral density after puberty.

Occipitocervical Fusion for Severe Atlantoaxial Dislocation in an Underdeveloped Child with Chondrodysplasia Punctata: A Case Report

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

PTEN mutation in a Japanese boy with autonomously functioning thyroid nodule.

Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.

Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney-urinary tract in pediatric Turner syndrome

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

Shear wave velocity is a useful marker for managing nonalcoholic steatohepatitis

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.

Spontaneous regression of isolated neurohypophyseal langerhans cell histiocytosis with diabetes insipidus.

Successful Combined Treatment for Atrophic Thyroiditis With Growth Hormone Deficiency

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.

The levels of serum low-density lipoprotein cholesterol using direct measurement in healthy Japanese school children

The occurrence of neonatal acute respiratory disorders in 21-hydroxylase deficiency.

Thyroid-stimulating hormone (thyrotropin)-secretion pituitary adenoma in an 8-year-old boy: case report

Two cases of 22q11.2 deletion syndrome with anorectal anomalies and growth retardation

Two cases of pseudohypoparathyroidism type ia in duozygotic twins with different phenotypes

Usefulness of serum adiponectin level as a diagnostic marker of metabolic syndrome in obese Japanese children

Virilizing Adrenocortical Carcinoma Invading the Right Atrium with Histological High-Grade Malignancy and p53 Mutation in a 3-Year-Old Child: Indication of Post Operative Adjuvant Chemotherapy

West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14