Lista de obras - Guiomar Perez de Nanclares

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

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

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Clinical utility gene card for: pseudohypoparathyroidism

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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.

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Genetics of pseudohypoparathyroidism: bases for proper genetic counselling

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

scientific article published on 08 July 2018

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

artículo científico publicado en 2018

Impaired proteostasis in rare neurological diseases

article

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

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

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 1999

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

Mutations inMAFAandIAPPare not a common cause of monogenic diabetes

artículo científico publicado en 2009

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 ABCC8 mutations in relapsing neonatal diabetes and clinical features

artículo científico publicado en 2007

New mutation type in pseudohypoparathyroidism type Ia.

artículo científico publicado en 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 ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Panhypopituitarism: genetic versus acquired etiological factors

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2018

Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 2013

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 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.

artículo científico publicado en 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.

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

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

artículo científico publicado en 2010

Lista de obras de Guiomar Perez de Nanclares

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

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.

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

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

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

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

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

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

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.

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

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

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

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

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

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

Prenatal and foetal autopsy findings in glutaric aciduria type II

Progressive osseous heteroplasia caused by a mosaic gnas mutation.