Lista de obras - Angel Campos-Barros - Dominio Público Uruguay

A new overgrowth syndrome is due to mutations in RNF125.

artículo científico publicado en 2014

A new variant in PHKA2 is associated with glycogen storage disease type IXa.

artículo científico publicado en 2017

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

artículo científico publicado en 2005

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

artículo científico publicado en 2010

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients

artículo científico publicado en 2009

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

artículo científico publicado en 2006

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

artículo científico publicado en 2010

Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

artículo científico publicado en 2007

Effect of oral glucose administration on ghrelin levels in obese children.

artículo científico publicado en 2004

Effects of lithium and carbamazepine on thyroid hormone metabolism in rat brain.

artículo científico publicado en 1997

Effects of selenium and iodine deficiency on thyroid hormone concentrations in the central nervous system of the rat.

artículo científico publicado en 1997

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

artículo científico publicado en 2014

Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing

artículo científico publicado en 2012

Genetic screening of a Dutch population with isolated GH deficiency (IGHD).

artículo científico publicado en 2008

Ghrelin levels in obesity and anorexia nervosa: effect of weight reduction or recuperation.

artículo científico publicado en 2004

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

artículo científico publicado en 2015

Hypothalamic-pituitary-thyroid axis in chronic alcoholism. II. Deiodinase activities and thyroid hormone concentrations in brain and peripheral tissues of rats chronically exposed to ethanol.

artículo científico publicado en 1994

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

artículo científico publicado en 2011

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)

artículo científico publicado en 2010

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

artículo científico publicado en 2012

Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

artículo científico publicado en 2010

Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency

artículo científico publicado en 2019

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

artículo científico publicado en 2017

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

scientific article published on 08 January 2014

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

artículo científico publicado en 2001

Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.

artículo científico publicado en 2008

Phenolic and tyrosyl ring iodothyronine deiodination and thyroid hormone concentrations in the human central nervous system

scientific article published on 01 June 1996

Protective effects of insulin-like growth factor-I on the somatostatinergic system in the temporal cortex of beta-amyloid-treated rats.

artículo científico publicado en 2005

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

artículo científico publicado en 2011

Subchronic administration of fluoxetine to rats affects triiodothyronine production and deiodination in regions of the cortex and in the limbic forebrain.

artículo científico publicado en 1994

The effects of desipramine on thyroid hormone concentrations in rat brain

scientific article published on 01 May 1995

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

artículo científico publicado en 2015

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data]

scientific article published on 01 July 2016

Lista de obras de Angel Campos-Barros

A new overgrowth syndrome is due to mutations in RNF125.

A new variant in PHKA2 is associated with glycogen storage disease type IXa.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

Effect of oral glucose administration on ghrelin levels in obese children.

Effects of lithium and carbamazepine on thyroid hormone metabolism in rat brain.

Effects of selenium and iodine deficiency on thyroid hormone concentrations in the central nervous system of the rat.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing

Genetic screening of a Dutch population with isolated GH deficiency (IGHD).

Ghrelin levels in obesity and anorexia nervosa: effect of weight reduction or recuperation.

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Hypothalamic-pituitary-thyroid axis in chronic alcoholism. II. Deiodinase activities and thyroid hormone concentrations in brain and peripheral tissues of rats chronically exposed to ethanol.

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.

Phenolic and tyrosyl ring iodothyronine deiodination and thyroid hormone concentrations in the human central nervous system

Protective effects of insulin-like growth factor-I on the somatostatinergic system in the temporal cortex of beta-amyloid-treated rats.

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

Subchronic administration of fluoxetine to rats affects triiodothyronine production and deiodination in regions of the cortex and in the limbic forebrain.

The effects of desipramine on thyroid hormone concentrations in rat brain

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data]