Lista de obras - Koji Muroya - Dominio Público Uruguay

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

artículo científico publicado en 2000

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

artículo científico publicado en 2014

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 basiocciput development in CHARGE syndrome

artículo científico publicado en 2008

Androgen receptor gene and male genital anomaly.

artículo científico publicado en 2002

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

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

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

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

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

artículo científico publicado en 2012

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

artículo científico

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

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

Identification of novel low-dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients

artículo científico publicado en 2012

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

artículo científico

Individual variation of the genetic response to bisphenol a in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients

artículo científico publicado en 2012

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

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus

artículo científico publicado en 1996

Micropenis and the AR Gene: mutation and CAG repeat-length analysis

artículo científico publicado en 2001

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients

artículo científico publicado en 2011

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias

artículo científico publicado en 2015

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

PAX8 mutation disturbing thyroid follicular growth: a case report

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

artículo científico publicado en 1997

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

artículo científico publicado en 2015

Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation

artículo científico publicado en 2002

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

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

artículo científico publicado en 2007

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome

artículo científico publicado en 1999

Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl

artículo científico publicado en 2015

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 W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia

artículo científico publicado en 2004

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

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

artículo científico publicado en 2010

Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients

scientific article published on 01 November 2001

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

artículo científico

Lista de obras de Koji Muroya

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

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

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 basiocciput development in CHARGE syndrome

Androgen receptor gene and male genital anomaly.

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency

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

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

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.

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

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.

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

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

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

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

Heterozygous defects in PAX6 gene and congenital hypopituitarism

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype

Identification of novel low-dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients

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

Individual variation of the genetic response to bisphenol a in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients

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

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus

Micropenis and the AR Gene: mutation and CAG repeat-length analysis

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

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

Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

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

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

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias

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.

PAX8 mutation disturbing thyroid follicular growth: a case report

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

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

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

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

Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation

Ruvalcaba syndrome revisited.

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

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome

Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl

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

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

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia

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.

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

Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients

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