List of works - José C Moreno

A Novel Missense Variant in the NKX2-1 <i>Homeodomain</i> Prevents Transcriptional Rescue by TAZ

scientific article published in July 2024

Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.

scientific article published on 17 April 2017

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of

scientific article published on 23 November 2018

Central hypothyroidism in children

scientific article published on 29 August 2014

Cloning of tissue-specific genes using serial analysis of gene expression and a novel computational substraction approach.

scientific article

Coexistence of thyroid hormone resistance syndrome, pituitary adenoma and Graves' disease

scientific article published on 16 January 2016

Evolution of urinary iodine excretion over eleven years in an adult population

scientific article published on 10 August 2014

Frequent and Rare HABP2 Variants Are Not Associated with Increased Susceptibility to Familial Nonmedullary Thyroid Carcinoma in the Spanish Population

scientific article published on 12 June 2018

Genetic basis of hypothyroidism: recent advances, gaps and strategies for future research.

scientific article

Graves' disease in children and adolescents: response to long-term treatment.

scientific article

Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression

scientific article

Induction of puberty with human chorionic gonadotropin and follicle-stimulating hormone in adolescent males with hypogonadotropic hypogonadism

scientific article published on 01 February 1999

Insulin-secretion abnormalities and clinical deterioration related to impaired glucose tolerance in cystic fibrosis.

scientific article published in February 2005

Levothyroxine enhances glucose clearance and blunts the onset of experimental type 1 diabetes mellitus in mice.

scientific article published on 11 August 2017

Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families

scientific article published on 01 June 2002

TAZ/WWTR1 mediates the pulmonary effects of NKX2-1 mutations in Brain-Lung-Thyroid syndrome.

scientific article published on 26 December 2017

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

scientific article published on 22 February 2018

The metabolism and de-bromination of bromotyrosine in vivo.

scientific article published on 27 November 2015

The metabolism and dechlorination of chlorotyrosine in vivo

scientific article published on 08 August 2007

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.

scientific article published on 06 March 2017

Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.

scientific article published on 29 October 2013

Transient PAX8 Expression in Islets During Pregnancy Correlates With Beta Cell Survival Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus

article

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.

scientific article published on 11 September 2017

List of works by José C Moreno

A Novel Missense Variant in the NKX2-1 <i>Homeodomain</i> Prevents Transcriptional Rescue by TAZ

Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of

Central hypothyroidism in children

Cloning of tissue-specific genes using serial analysis of gene expression and a novel computational substraction approach.

Coexistence of thyroid hormone resistance syndrome, pituitary adenoma and Graves' disease

Evolution of urinary iodine excretion over eleven years in an adult population

Frequent and Rare HABP2 Variants Are Not Associated with Increased Susceptibility to Familial Nonmedullary Thyroid Carcinoma in the Spanish Population

Genetic basis of hypothyroidism: recent advances, gaps and strategies for future research.

Graves' disease in children and adolescents: response to long-term treatment.

Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression

Induction of puberty with human chorionic gonadotropin and follicle-stimulating hormone in adolescent males with hypogonadotropic hypogonadism

Insulin-secretion abnormalities and clinical deterioration related to impaired glucose tolerance in cystic fibrosis.

Levothyroxine enhances glucose clearance and blunts the onset of experimental type 1 diabetes mellitus in mice.

Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families

TAZ/WWTR1 mediates the pulmonary effects of NKX2-1 mutations in Brain-Lung-Thyroid syndrome.

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

The metabolism and de-bromination of bromotyrosine in vivo.

The metabolism and dechlorination of chlorotyrosine in vivo

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.

Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.

Transient PAX8 Expression in Islets During Pregnancy Correlates With Beta Cell Survival Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.