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List of works by Reiko Horikawa

(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

scientific article published on 4 February 2008

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

scientific article published on 16 April 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

scientific article published on 19 March 2010

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

scientific article published on April 2014

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

scientific article published on July 2010

Anal Canal Carcinoma in a Child With Disorders of Sex Development

scientific article

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

scientific article published on November 11, 2010

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

scientific article

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

scientific article published on 26 April 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

scientific article published on 03 December 2017

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 features and management of organic acidemias in Japan

scientific article published on 26 September 2013

Clinical practice guidelines for congenital hyperinsulinism

scientific article published on 27 July 2017

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

scientific article published on 24 March 2012

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

scientific article published on 2 June 2016

Continuing efforts to standardize measured serum growth hormone values in Japan

scientific article published on 22 July 2016

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

scientific article

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

scientific article published in February 2006

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

scientific article

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

scientific article

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

scientific article published on 04 June 2019

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

scientific article

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

scientific article published on 7 November 2017

Epidemiology of anorexia nervosa in Japanese adolescents

scientific article

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

scientific article

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

scientific article

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

scientific article published on 24 March 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

scientific article

GATA3 abnormalities in six patients with HDR syndrome.

scientific article published on 13 January 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.

scientific article published in April 2004

Genitourinary phenotype in XX patients with distal 9p monosomy.

scientific article published on June 2004

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

scientific article published on 23 July 2014

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

Growth impairment in individuals with citrin deficiency

scientific article published on 04 February 2019

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

scientific article

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

scientific article

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

scientific article published on November 29, 2011

Hearing loss in Turner syndrome

scientific article published in November 2006

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

scientific article published on 03 February 2014

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

scientific article published on October 2010

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

scientific article published on 2 October 2014

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

scientific article published in February 2007

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

scientific article published on 28 December 2013

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

scientific article

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

scientific article published on 17 November 2010

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

scientific article

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

scientific article published on 2 July 2016

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

scientific article published on 29 October 2012

Inborn errors of ketone body utilization

scientific article published in February 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 ⬇️

scientific article published on December 7, 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

scientific article published on 09 April 2020

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

scientific article published on 26 November 2019

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

scientific article published on December 14, 2011

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

scientific article published on 29 July 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

scientific article published on 9 November 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.

scientific article published on 8 July 2008

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

scientific article

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

scientific article published on 9 May 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 ⬇️

scientific article published on January 13, 2012

New reference growth charts for Japanese girls with Turner syndrome.

scientific article

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

scientific article published on 22 February 2006

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

scientific article

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

scientific article published on 30 November 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.

scientific article

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

scientific article published on 27 April 2010

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

scientific article

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

scientific article

Perioperative management of living-donor liver transplantation for methylmalonic acidemia

scientific article published on 24 May 2016

Placental hypoplasia in maternal uniparental disomy for chromosome 7

scientific article published on 01 February 2008

Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia

scientific article published in April 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 ⬇️

scientific article published on October 1, 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

scientific article published on 7 March 2018

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

scientific article published on July 2010

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

scientific article

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

scientific article published on 4 June 2015

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

scientific article published on 25 May 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

scientific article

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

scientific article published on 17 March 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 comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia

scientific article published on 01 February 2003

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

scientific article published on 11 February 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.

scientific article published on 26 October 2016

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

scientific article published on 03 October 2020

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

scientific article published on 20 April 2014

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

scientific article published on 28 May 2019

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

scientific article

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

scientific article published on 11 April 2006

Usefulness of insulin detemir in Japanese children with type 1 diabetes

scientific article published on 17 September 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

scientific article published on 07 July 2004

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

scientific article published on 19 February 2009

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

scientific article

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