Lista de obras - Masanori Adachi - Dominio Público Uruguay

1p36 deletion syndrome associated with Prader-Willi-like phenotype

artículo científico publicado en 2010

A case of aphallia

artículo científico publicado en 1996

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

artículo científico publicado en 1999

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation

artículo científico publicado en 2014

A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).

artículo científico

A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification

scientific article published on 01 July 2010

Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy.

artículo científico publicado en 2013

Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase

article

Achondroplasia and enchondromatosis: report of three boys

artículo científico publicado en 2006

Analysis of mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

scholarly article by Hiroyuki Iijima published in December 2018

Assessment of user-friendliness of the Norditropin FlexPro for pediatric patients treated with recombinant human growth hormone: results of an open-label user survey.

artículo científico publicado en 2013

Association between graves' disease and renal coloboma syndrome: a case report

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

artículo científico publicado en 2004

Classic Bartter syndrome complicated with profound growth hormone deficiency

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report

artículo científico publicado en 2013

Clinical Practice Guidelines for Achondroplasia

scientific article published on 09 January 2020

Clinical Practice Guidelines for Hypophosphatasia

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

artículo científico

Clinical practice guidelines for congenital hyperinsulinism

artículo científico

Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.

artículo científico publicado en 2015

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

artículo científico publicado en 2015

Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.

artículo científico publicado en 2001

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

artículo científico publicado en 2004

Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies

scientific article published on 25 August 2020

Correction to: Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1

artículo científico publicado en 2020

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

artículo científico publicado en 2009

Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1

artículo científico publicado en 2020

Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature

artículo científico

Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a.

artículo científico publicado en 2009

Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency

artículo científico publicado en 2006

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome

artículo científico publicado en 2007

First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation

artículo científico publicado en 2012

First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X-linked Hypophosphatemia

scientific article published on 14 September 2018

Fluctuation of blood glucose levels in an infant with an ileostomy on continuous glucose monitoring: A case report

artículo científico publicado en 2018

Foot anomalies in Antley-Bixler syndrome: three case reports.

artículo científico publicado en 2008

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism

artículo científico publicado en 2012

Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature

artículo científico publicado en 2009

Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndrome

artículo científico publicado en 2003

Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review

artículo científico publicado en 2019

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.

artículo científico publicado en 2016

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 hormone response to GH-releasing peptide-2 in children

artículo científico publicado en 2010

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

Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype.

artículo científico publicado en 2010

Heterozygous defects in PAX6 gene and congenital hypopituitarism

artículo científico publicado en 2014

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype

artículo científico publicado en 2009

Hyponatremia secondary to severe atopic dermatitis in early infancy

artículo científico publicado en 2019

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

artículo científico publicado en 2006

Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation

artículo científico

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

Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism

artículo científico

Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1,6-bisphosphatase deficiency

artículo científico publicado en 2003

Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations.

artículo científico publicado en 2012

Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper

artículo científico

Metreleptin worked in a diabetic woman with a history of hematopoietic stem cell transplantation (HSCT) during infancy: further support for the concept of 'HSCT-associated lipodystrophy'

artículo científico publicado en 2020

Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome

artículo científico publicado en 2006

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

artículo científico publicado en 2007

Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1

artículo científico publicado en 2007

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

artículo científico publicado en 2013

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

artículo científico publicado en 2008

Ovarian function in three female patients with McCune-Albright syndrome with persistent autonomous ovarian activity

artículo científico publicado en 2002

Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement

artículo científico publicado en 2014

PAX8 mutation disturbing thyroid follicular growth: a case report

artículo científico publicado en 2011

POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait

Partial lipodystrophy in patients who have undergone hematopoietic stem cell transplantation during childhood: an institutional cross-sectional survey

artículo científico publicado en 2017

Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report

artículo científico publicado en 2015

Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report

artículo científico publicado en 2016

Prevalence of obesity, hyperlipemia and insulin resistance in children with suprasellar brain tumors.

artículo científico publicado en 2007

Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites.

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Ruvalcaba syndrome revisited.

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation

scientific article published on 01 February 2019

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients

artículo científico publicado en 2003

Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review

scientific article published on 15 September 2018

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

artículo científico publicado en 2016

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study

scientific article published on 21 January 2009

The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism.

artículo científico publicado en 2015

Therapeutic use of oral sodium phosphate (phosribbon(®) combination granules) in hereditary hypophosphatemic rickets.

artículo científico

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.

artículo científico publicado en 2010

Unfavorable lipoprotein profile in childhood cancer survivors with suprasellar brain tumors--a high Apo B level and increased small dense LDL-cholesterol

artículo científico

Unnoticed maternal Graves' disease revealed by the baby's low free thyroxine in newborn screening: an underestimated condition supporting thyroid disease screening among pregnant women

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Usefulness of pancreatic ultrasonography in the diagnosis of Shwachman-Bodian-Diamond syndrome

artículo científico publicado en 2005

Lista de obras de Masanori Adachi

1p36 deletion syndrome associated with Prader-Willi-like phenotype

A case of aphallia

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation

A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).

A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification

Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy.

Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase

Achondroplasia and enchondromatosis: report of three boys

Analysis of mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Assessment of user-friendliness of the Norditropin FlexPro for pediatric patients treated with recombinant human growth hormone: results of an open-label user survey.

Association between graves' disease and renal coloboma syndrome: a case report

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

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

Classic Bartter syndrome complicated with profound growth hormone deficiency

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report

Clinical Practice Guidelines for Achondroplasia

Clinical Practice Guidelines for Hypophosphatasia

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

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Clinical practice guidelines for congenital hyperinsulinism

Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies

Correction to: Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1

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

Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1

Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature

Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a.

Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome

First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation

First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X-linked Hypophosphatemia

Fluctuation of blood glucose levels in an infant with an ileostomy on continuous glucose monitoring: A case report

Foot anomalies in Antley-Bixler syndrome: three case reports.

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism

Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature

Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndrome

Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism

Growth hormone response to GH-releasing peptide-2 in children

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)

Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype.

Heterozygous defects in PAX6 gene and congenital hypopituitarism

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype

Hyponatremia secondary to severe atopic dermatitis in early infancy

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation

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

Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism

Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1,6-bisphosphatase deficiency

Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations.

Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper

Metreleptin worked in a diabetic woman with a history of hematopoietic stem cell transplantation (HSCT) during infancy: further support for the concept of 'HSCT-associated lipodystrophy'

Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis

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

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

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

Ovarian function in three female patients with McCune-Albright syndrome with persistent autonomous ovarian activity

Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement

PAX8 mutation disturbing thyroid follicular growth: a case report

POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait

Partial lipodystrophy in patients who have undergone hematopoietic stem cell transplantation during childhood: an institutional cross-sectional survey

Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report

Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report

Prevalence of obesity, hyperlipemia and insulin resistance in children with suprasellar brain tumors.

Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites.

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

Ruvalcaba syndrome revisited.

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