List of works - Keisuke Nagasaki

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

scientific article

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

scientific article published on 02 December 2011

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

scientific article published on 9 March 2013

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

scientific article published on 18 October 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

scientific article published on 01 April 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

scientific article published on 18 October 2013

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

scientific article

Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.

scientific article published on 11 June 2014

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

scientific article published in November 2017

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

scientific article published on 01 February 2011

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

scientific article published on 28 April 2016

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

scientific article

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.

scientific article published in March 2004

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

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

scientific article

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

scientific article published on 2 June 2016

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

scientific article published on 19 August 2014

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

scientific article published on 16 August 2017

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

scientific article

Criteria of radiological diagnosis for neonates with hypochondroplasia.

scientific article published on 28 April 2015

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

scientific article published on 08 August 2007

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

scientific article published on 2 July 2015

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

scientific article published on 21 July 2010

Factors affecting functional outcomes in long-term survivors of intracranial germinomas: a 20-year experience in a single institution ⬇️

scientific article published on February 1, 2013

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

scientific article

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

scientific article published on 08 April 2019

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

scientific article published on 28 April 2016

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

scientific article

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

scientific article

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

scientific article published on October 2009

Heterozygous defects in PAX6 gene and congenital hypopituitarism

scientific article published on 23 October 2014

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

scientific article

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

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

scientific article published on 10 March 2018

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

scientific article published in April 2017

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

scientific article

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

scientific article published on 7 February 2007

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

scientific article published in September 2008

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

scientific article published in June 2005

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

scientific article published on 22 July 2010

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

scientific article published on 10 December 2010

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

scientific article published on 20 January 2015

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

scientific article published on 7 January 2016

Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification ⬇️

scientific article published on October 25, 2012

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

scientific article

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

scientific article published on 31 January 2018

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

scientific article published on 2 November 2010

Obese Japanese children have low bone mineral density after puberty.

scientific article published on January 2004

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

scientific article published in January 2017

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

scientific article

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

scientific article

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

scientific article published on 2 February 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

scientific article

Shear wave velocity is a useful marker for managing nonalcoholic steatohepatitis

scientific article

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

scientific article published on 27 November 2014

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

scientific article published on 20 May 2009

Successful Combined Treatment for Atrophic Thyroiditis With Growth Hormone Deficiency

scientific article published on 03 October 2016

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

scientific article published on 22 June 2017

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

scientific article

The Relationship between Preheparin Lipoprotein Lipase and Metabolic Derangements in Obese Japanese Children ⬇️

scientific article published on March 26, 2011

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

scientific article published on 07 July 2004

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

scientific article published on 15 April 2011

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

scientific article published on 01 March 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

scientific article published on 12 August 2005

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

scientific article published in January 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

scientific article published on 07 July 2004

List of works by 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

Factors affecting functional outcomes in long-term survivors of intracranial germinomas: a 20-year experience in a single institution ⬇️

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.

Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification ⬇️

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 Relationship between Preheparin Lipoprotein Lipase and Metabolic Derangements in Obese Japanese Children ⬇️

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