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Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

artículo científico publicado en 2018

Brachydactyly E: isolated or as a feature of a syndrome

artículo científico publicado en 2013

Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype–genotype correlations

artículo científico publicado el 1 de noviembre de 2010

Clinical utility gene card for: pseudohypoparathyroidism

artículo científico publicado en 2012

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

artículo científico publicado en 2012

Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas.

artículo científico publicado en 2013

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

artículo científico publicado en 2014

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

article published in 2015

Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report

artículo científico publicado en 2010

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

artículo científico publicado en 2016

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

artículo científico publicado en 2016

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes

artículo científico publicado en 2013

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

article

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.

artículo científico publicado en 2008

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

artículo científico publicado en 2012

Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome

article

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B.

artículo científico publicado en 2010

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B

artículo científico publicado en 2009

Multilocus methylation defects in imprinting disorders.

artículo científico

Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels.

artículo científico publicado en 2010

Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels

artículo científico publicado en 2010

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

artículo científico publicado en 2010

New mutation type in pseudohypoparathyroidism type Ia.

artículo científico publicado en 2008

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms

artículo científico publicado en 2015

Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene

artículo científico publicado en 2012

Progressive osseous heteroplasia caused by a mosaic gnas mutation.

artículo científico publicado en 2018

Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification

artículo científico publicado en 2014

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

artículo científico publicado en 2010

Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.

artículo científico publicado en 2015

The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations

scientific article published on 01 November 2017

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

artículo científico publicado en 2016

The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation.

artículo científico publicado en 2018

The p.R56* mutation in PTHLH causes variable brachydactyly type E.

artículo científico publicado en 2017

Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome

artículo científico publicado en 2009

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

artículo científico publicado en 2018

[Glucose and galactose malabsorption: A new case in Spain]

artículo científico publicado en 2019