List of works - Guiomar Perez de Nanclares

5'-Insulin gene VNTR polymorphism is specific for type 1 diabetes: no association with celiac or Addison's disease

scientific article published on 01 November 2003

A submicroscopic deletion of 11p13 associated with the WAGR syndrome.

scientific article

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

scientific article published on 15 April 2008

Analysis of chromosome 6q in Basque families with type 1 diabetes. GEPV-N. Basque-Navarre Endocrinology and Paediatric Group

scientific article published on 01 January 2000

Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

article

Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4

article

Brachydactyly E: isolated or as a feature of a syndrome

scientific article published on 12 September 2013

Braquidactilia tipo C debida a mutación de parada en el gen GDF5

scientific article published on 05 April 2017

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

scientific article published on 2 August 2016

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

scientific article published on 26 February 2014

Clinical utility gene card for: pseudohypoparathyroidism

scientific article published on 12 September 2012

Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.

scientific article

Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease.

scientific article

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

article

Contribution of MIC-A polymorphism to type 1 diabetes mellitus in Basques

scientific article published on 01 April 2002

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

article

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

scientific article published on 4 April 2012

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

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

scientific article published on 14 March 2013

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

scientific article published on 26 March 2013

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

scientific article

Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history».

scientific article published on 7 January 2017

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

scientific article

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

article published in 2015

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 Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene

scientific article published on 16 December 2016

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

scientific article published on 4 June 2011

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

scientific article

Functional Study of a Novel Single Deletion in theTITF1/NKX2.1Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress

article

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

scientific article

GATA4 mutations are a cause of neonatal and childhood-onset diabetes.

scientific article published on 2 April 2014

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity

scientific article published on 25 April 2018

Genetics of pseudohypoparathyroidism: bases for proper genetic counselling

scientific article published in December 2008

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

scientific article published on 26 January 2016

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

scientific article published on 19 February 2013

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

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

article

HLA-DRB1 and MICA in autoimmunity: common associated alleles in autoimmune disorders

scientific article published on 01 November 2003

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

scientific article

Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review

scientific article published on 08 July 2018

Impaired proteostasis in rare neurological diseases

article

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

scientific article

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

scientific article published on 01 December 2020

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.

scientific 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

scientific article

Intratumoral activating GNAS (R201C) mutation in two unrelated patients with virilizing ovarian Leydig cell tumors

scientific article published on 11 May 2017

Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population: Association Study of KIR Gene Contents With Type 1 Diabetes Mellitus

article

Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation

scientific article published on 30 March 2016

Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome.

scientific article

Multiple endocrine neoplasia type 1 (MEN1): clinical heterogeneity in a large family with a nonsense mutation in the MEN1 gene (Trp471Stop)

scientific article published on 01 March 1999

Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.

scientific article

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

scientific article published on 15 June 2007

Mutations inMAFAandIAPPare not a common cause of monogenic diabetes

scientific article published on 01 July 2009

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

scientific article

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

scientific article

New ABCC8 mutations in relapsing neonatal diabetes and clinical features

scientific article

New mutation type in pseudohypoparathyroidism type Ia.

scientific article published on 3 April 2008

No association of INS-VNTR genotype and IAA autoantibodies

scientific article published on 01 December 2004

No evidence of association of CTLA4 polymorphisms with Addison's disease

article

No evidence of association of chromosome 2 q with Type I diabetes in the Basque population

article

Novel Variant in <i>PLAG1</i> in a Familial Case with Silver-Russell Syndrome Suspicion

scientific article published on 05 December 2020

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

scientific article published on 16 January 2015

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

scientific article published on 5 October 2012

Panhypopituitarism: genetic versus acquired etiological factors

scientific article published on 01 January 2007

Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs)

scientific article published on 28 September 2018

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

scientific article

Prenatal and foetal autopsy findings in glutaric aciduria type II

scientific article published on 22 September 2020

Progressive osseous heteroplasia caused by a mosaic gnas mutation.

scientific article published on 21 February 2018

Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history

scientific article published on 9 April 2015

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

scientific article

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

scientific article published on 05 August 2020

Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

scientific article published on 28 May 2013

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

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.

scientific article published on 18 July 2016

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

article

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

scientific article

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

scientific article published in April 2009

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

scientific article

[Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.].

scientific article published on 18 December 2010

List of works by Guiomar Perez de Nanclares

5'-Insulin gene VNTR polymorphism is specific for type 1 diabetes: no association with celiac or Addison's disease

A submicroscopic deletion of 11p13 associated with the WAGR syndrome.

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

Analysis of chromosome 6q in Basque families with type 1 diabetes. GEPV-N. Basque-Navarre Endocrinology and Paediatric Group

Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4

Brachydactyly E: isolated or as a feature of a syndrome

Braquidactilia tipo C debida a mutación de parada en el gen GDF5

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

Clinical utility gene card for: pseudohypoparathyroidism

Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.

Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease.

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Contribution of MIC-A polymorphism to type 1 diabetes mellitus in Basques

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

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

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

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

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history».

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

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

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

Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene

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

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

Functional Study of a Novel Single Deletion in theTITF1/NKX2.1Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

GATA4 mutations are a cause of neonatal and childhood-onset diabetes.

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity

Genetics of pseudohypoparathyroidism: bases for proper genetic counselling

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

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

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

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

HLA-DRB1 and MICA in autoimmunity: common associated alleles in autoimmune disorders

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

Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review

Impaired proteostasis in rare neurological diseases

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

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.

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

Intratumoral activating GNAS (R201C) mutation in two unrelated patients with virilizing ovarian Leydig cell tumors

Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population: Association Study of KIR Gene Contents With Type 1 Diabetes Mellitus

Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation

Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome.

Multiple endocrine neoplasia type 1 (MEN1): clinical heterogeneity in a large family with a nonsense mutation in the MEN1 gene (Trp471Stop)

Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Mutations inMAFAandIAPPare not a common cause of monogenic diabetes

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

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

New ABCC8 mutations in relapsing neonatal diabetes and clinical features

New mutation type in pseudohypoparathyroidism type Ia.

No association of INS-VNTR genotype and IAA autoantibodies

No evidence of association of CTLA4 polymorphisms with Addison's disease

No evidence of association of chromosome 2 q with Type I diabetes in the Basque population

Novel Variant in <i>PLAG1</i> in a Familial Case with Silver-Russell Syndrome Suspicion

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

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

Panhypopituitarism: genetic versus acquired etiological factors

Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs)

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

Prenatal and foetal autopsy findings in glutaric aciduria type II

Progressive osseous heteroplasia caused by a mosaic gnas mutation.

Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history

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

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

The Human Phenotype Ontology in 2024: phenotypes around the world

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

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

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

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

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

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