Lista de obras -

(Epi)genetic defects of are rare in Asian patients with central precocious puberty

article

21 hypoglycemia cases with hyperinsulinemia

A case of female pseudohermaphroditism caused by aromatase deficiency.

scientific article published on 07 July 2004

A case of malignant pheochromocytoma with Holt-Oram syndrome

artículo científico publicado en 2008

A nationwide questionnaire survey targeting Japanese pediatric endocrinologists regarding transitional care in childhood, adolescent, and young adult cancer survivors

artículo científico publicado en 2020

A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene

artículo científico publicado en 2010

A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.

artículo científico publicado en 2014

Adult heights of 258 girls with turner syndrome on low dose of growth hormone therapy in Japan

artículo científico publicado en 2010

Anal Canal Carcinoma in a Child With Disorders of Sex Development

artículo científico publicado en 2016

Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes ⬇️

artículo científico publicado el 11 de noviembre de 2010

Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

artículo científico publicado en 2011

Assessment of Psychosocial Status among Short-stature Children with and without Growth Hormone Therapy and Their Parents

artículo científico publicado en 2013

Auxiliary Partial Orthotopic Liver Transplantation for Noncirrhotic Metabolic Liver Disease: Reigniting Interest in an Old but New Technique

scientific article published on 01 January 2019

Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms

artículo científico publicado en 2017

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 features and management of organic acidemias in Japan

artículo científico publicado en 2013

Clinical practice guidelines for congenital hyperinsulinism

artículo científico

Combined Treatment with Gonadotropin-releasing Hormone Analog and Anabolic Steroid Hormone Increased Pubertal Height Gain and Adult Height in Boys with Early Puberty for Height

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Continuing efforts to standardize measured serum growth hormone values in Japan

artículo científico publicado en 2016

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

artículo científico publicado en 2013

Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis

artículo científico publicado en 2006

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients

artículo científico publicado en 2009

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

artículo científico publicado en 2004

DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients

artículo científico publicado en 2017

Epidemiology of anorexia nervosa in Japanese adolescents

artículo científico publicado en 2015

Etiology of liver dysfunction after liver transplantation in children with metabolic disorders

scientific article published on 19 January 2020

Evaluation of growth hormone treatment efficacy in short Japanese children born small for gestational age: Five-year treatment outcome and impact on puberty

artículo científico publicado en 2017

Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.

artículo científico publicado en 2016

Favorable impact of growth hormone treatment on cholesterol levels in turner syndrome

artículo científico publicado en 2012

Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency

article by Toshiki Takenouchi et al published October 2014 in American Journal of Medical Genetics

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

artículo científico publicado en 2015

GATA3 abnormalities in six patients with HDR syndrome.

artículo científico publicado en 2011

Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

artículo científico publicado en 2004

Genitourinary phenotype in XX patients with distal 9p monosomy.

artículo científico publicado en 2004

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Growth impairment in individuals with citrin deficiency

artículo científico publicado en 2019

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

HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families ⬇️

artículo científico publicado el 29 de noviembre de 2011

Hearing loss in Turner syndrome

artículo científico publicado en 2006

Hepatocyte transplantation using a living donor reduced graft in a baby with ornithine transcarbamylase deficiency: a novel source of hepatocytes

artículo científico publicado en 2014

High cardiovascular risk factors among obese children in an urban area of Japan

artículo científico publicado en 2010

Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.

artículo científico publicado en 2014

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.

artículo científico publicado en 2007

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

artículo científico publicado en 2013

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis

artículo científico publicado en 2008

Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.

artículo científico publicado en 2010

Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature

artículo científico publicado en 2011

Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age.

artículo científico publicado en 2016

Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation

artículo científico publicado en 2012

Inborn errors of ketone body utilization

artículo científico publicado en 2015

Inconsistent determination of overweight by two anthropometric indices in girls with Turner syndrome

scientific article published on 17 November 2008

Living‐donor liver transplantation for propionic acidemia ⬇️

artículo científico publicado el 7 de diciembre de 2011

Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients

artículo científico publicado en 2020

Longterm Outcomes of Living Donor Liver Transplantation for Glycogen Storage Disease Type 1b

artículo científico publicado en 2019

Long‐term outcome and intervention of urea cycle disorders in Japan ⬇️

artículo científico publicado el 14 de diciembre de 2011

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.

artículo científico publicado en 2015

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

scientific article published on 01 June 2018

Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease

scientific article published on 12 April 2019

Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome

artículo científico publicado en 2017

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

artículo científico publicado en 2008

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

artículo científico publicado en 2013

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

artículo científico publicado en 2013

National survey of primary amenorrhea and relevant conditions in Japan

scientific article published on 16 December 2020

Nationwide surveillance of circulatory collapse associated with levothyroxine administration in very‐low‐birthweight infants in Japan ⬇️

artículo científico publicado el 13 de enero de 2012

New reference growth charts for Japanese girls with Turner syndrome.

artículo científico publicado en 2009

No Improvement of Adult Height in Non-growth Hormone (GH) Deficient Short Children with GH Treatment

artículo científico publicado en 2006

Nomenclature of primary amenorrhea: A proposal document of the Japan Society of Obstetrics and Gynecology committee for the redefinition of primary amenorrhea.

artículo científico publicado en 2017

Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan

artículo científico publicado en 2007

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development

scientific article published on 15 October 2020

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

artículo científico publicado en 2004

Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency

artículo científico publicado en 2010

Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome

artículo científico publicado en 2008

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

artículo científico publicado en 2018

Perioperative management of living-donor liver transplantation for methylmalonic acidemia

artículo científico publicado en 2016

Placental hypoplasia in maternal uniparental disomy for chromosome 7

artículo científico publicado en 2008

Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia.

artículo científico publicado en 2017

Prediction of pubertal growth at start of estrogen replacement therapy in turner syndrome

scientific article published on 14 February 2008

Preoperative Dialysis for Liver Transplantation in Methylmalonic Acidemia ⬇️

artículo científico publicado el 1 de octubre de 2011

Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome-a questionnaire survey by the Foundation for Growth Science.

artículo científico publicado en 2018

Proposal of new auxological standards for Japanese girls with turner syndrome.

artículo científico publicado en 2010

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

artículo científico publicado en 2004

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

artículo científico publicado en 2015

Replacement of alanine with asparagic acid at position 203 in human steroidogenic acute regulatory protein impairs the ability to enhance steroidogenesis in vitro

artículo científico publicado en 2006

SOX10 mutation in Waardenburg syndrome type II

scientific article published on 01 August 2008

Serum 25-hydroxyvitamin D levels showed strong seasonality but lacked association with vitamin D intake in 3-year-old Japanese children

scientific article published on 29 August 2018

Standardized centile curves and reference intervals of serum insulin-like growth factor-I (IGF-I) levels in a normal Japanese population using the LMS method

artículo científico publicado en 2012

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

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 comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia

artículo científico publicado en 2003

The impact of long-term growth hormone treatment on metabolic parameters in Japanese patients with short stature born small for gestational age.

artículo científico publicado en 2014

The influence of a long-term growth hormone treatment on lipid and glucose metabolism: a randomized trial in short Japanese children born small for gestational age.

artículo científico publicado en 2016

The long-term safety and effectiveness of growth hormone treatment in Japanese children with short stature born small for gestational age

artículo científico publicado en 2020

Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis

artículo científico publicado en 2014

Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.

artículo científico publicado en 2019

Trends in age and anthropometric data at start of growth hormone treatment for girls with Turner syndrome in Japan

artículo científico publicado en 2008

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone

artículo científico publicado en 2006

Usefulness of insulin detemir in Japanese children with type 1 diabetes

artículo científico publicado en 2012

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

Wide Range of Biotin (Vitamin H) Content in Foodstuffs and Powdered Milks as Assessed by High-performance Affinity Chromatography

artículo científico publicado en 2009

Women with Turner syndrome are at high risk of lifestyle-related disease -From questionnaire surveys by the Foundation for Growth Science in Japan

artículo científico publicado en 2016

Lista de obras de

(Epi)genetic defects of are rare in Asian patients with central precocious puberty

21 hypoglycemia cases with hyperinsulinemia

A case of female pseudohermaphroditism caused by aromatase deficiency.

A case of malignant pheochromocytoma with Holt-Oram syndrome

A nationwide questionnaire survey targeting Japanese pediatric endocrinologists regarding transitional care in childhood, adolescent, and young adult cancer survivors

A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene

A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.

Adult heights of 258 girls with turner syndrome on low dose of growth hormone therapy in Japan

Anal Canal Carcinoma in a Child With Disorders of Sex Development

Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes ⬇️

Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

Assessment of Psychosocial Status among Short-stature Children with and without Growth Hormone Therapy and Their Parents

Auxiliary Partial Orthotopic Liver Transplantation for Noncirrhotic Metabolic Liver Disease: Reigniting Interest in an Old but New Technique

Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms

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 features and management of organic acidemias in Japan

Clinical practice guidelines for congenital hyperinsulinism

Combined Treatment with Gonadotropin-releasing Hormone Analog and Anabolic Steroid Hormone Increased Pubertal Height Gain and Adult Height in Boys with Early Puberty for Height

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

Continuing efforts to standardize measured serum growth hormone values in Japan

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations

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

Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients

Epidemiology of anorexia nervosa in Japanese adolescents

Etiology of liver dysfunction after liver transplantation in children with metabolic disorders

Evaluation of growth hormone treatment efficacy in short Japanese children born small for gestational age: Five-year treatment outcome and impact on puberty

Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.

Favorable impact of growth hormone treatment on cholesterol levels in turner syndrome

Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

GATA3 abnormalities in six patients with HDR syndrome.

Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

Genitourinary phenotype in XX patients with distal 9p monosomy.

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism

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

Growth impairment in individuals with citrin deficiency

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

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

HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families ⬇️

Hearing loss in Turner syndrome

Hepatocyte transplantation using a living donor reduced graft in a baby with ornithine transcarbamylase deficiency: a novel source of hepatocytes

High cardiovascular risk factors among obese children in an urban area of Japan

Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis

Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.

Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature

Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age.

Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation

Inborn errors of ketone body utilization

Inconsistent determination of overweight by two anthropometric indices in girls with Turner syndrome

Living‐donor liver transplantation for propionic acidemia ⬇️

Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients

Longterm Outcomes of Living Donor Liver Transplantation for Glycogen Storage Disease Type 1b

Long‐term outcome and intervention of urea cycle disorders in Japan ⬇️

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease

Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

National survey of primary amenorrhea and relevant conditions in Japan

Nationwide surveillance of circulatory collapse associated with levothyroxine administration in very‐low‐birthweight infants in Japan ⬇️

New reference growth charts for Japanese girls with Turner syndrome.

No Improvement of Adult Height in Non-growth Hormone (GH) Deficient Short Children with GH Treatment

Nomenclature of primary amenorrhea: A proposal document of the Japan Society of Obstetrics and Gynecology committee for the redefinition of primary amenorrhea.

Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development

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

Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency

Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene