List of works - Gustavo Pérez de Nanclares

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

scientific article published on 19 March 2016

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

scientific article published on 5 May 2005

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

scientific article published in July 2003

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

scientific article published on 15 April 2008

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

scientific article published in November 2003

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

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

scientific article published on 4 June 2011

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

scientific article

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

scientific article

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

scientific article published on 05 December 2018

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

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

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

article

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

scientific article published on 23 April 2015

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

scientific article

List of works by Gustavo Pérez de Nanclares

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

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

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

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

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

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

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

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

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

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

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

Mutations inMAFAandIAPPare not a common cause of monogenic diabetes

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

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

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

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