List of works - Gustavo Pérez de Nanclares

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

scientific article published on August 2011

Analysis of the expression of MICA in small intestinal mucosa of patients with celiac disease

scientific article published in November 2003

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

scientific article published on 5 May 2005

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

scientific article

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

scientific article

Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm

scientific article

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

scientific article

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

scientific article published on 23 April 2015

ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.

scientific article published on 15 April 2008

A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome

scientific article published on 19 March 2016

Mutations inMAFAandIAPPare not a common cause of monogenic diabetes

scientific article published on 01 July 2009

Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis

scientific article

Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.

scientific article published on 4 June 2011

Novel mutations associated with inherited human calcium-sensing receptor disorders: a clinical genetic study

article

A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.

scientific article published in July 2003

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia

scientific article published on 05 December 2018

List of works by Gustavo Pérez de Nanclares

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

Analysis of the expression of MICA in small intestinal mucosa of patients with celiac disease

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

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

Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.

A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome

Mutations inMAFAandIAPPare not a common cause of monogenic diabetes

Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis

Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.

Novel mutations associated with inherited human calcium-sensing receptor disorders: a clinical genetic study

A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia