G. Perez de Nanclares

发表

Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells

M. D. de Pancorbo, G. Puras, J. Zárate, 2021, Pharmaceutics.

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

Z. Tümer, T. Eggermann, I. Temple, 2015, Clinical Epigenetics.

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

P. Lapunzina, R. Perona, M. Molina-Molina, 2019, Orphanet Journal of Rare Diseases.

Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress.

P. Santisteban, J. Bilbao, A. Carrascosa, 2006, The Journal of clinical endocrinology and metabolism.

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

B. Gener, I. Llano‐Rivas, Yerai Vado, 2018, BMC Medical Genomics.

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

O. Mäkitie, L. Rejnmark, M. Zillikens, 2020, Hormone Research in Paediatrics.

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

O. Mäkitie, L. Rejnmark, M. Zillikens, 2018, Nature Reviews Endocrinology.

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

G. Mantovani, A. Linglart, G. Perez de Nanclares, 2018, Best practice & research. Clinical endocrinology & metabolism.

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

B. Gener, E. Anda, R. Rodríguez-López, 2018, BMC Medical Genetics.

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

P. Wicart, J. Argente, P. Bougnères, 2012, The Journal of clinical endocrinology and metabolism.

Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: Comparison of IgG and IgA

J. Bilbao, L. Castaño, G. Perez de Nanclares, 2007, Autoimmunity.

Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature

A. Saâd, G. Perez de Nanclares, Javier Errea-Dorronsoro, 2018, Acta Diabetologica.

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.

C. Largo, M. Bastepe, E. Fernandez-Rebollo, 2010, The Journal of clinical endocrinology and metabolism.

Impaired proteostasis in rare neurological diseases.

R. Barrio, U. Mayor, A. Duarri, 2019, Seminars in cell & developmental biology.

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

J. Castilla, H. Eraña, G. Perez de Nanclares, 2022, Journal of Neurology.

Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders

G. Perez de Nanclares, G. Martos-Moreno, B. Lecumberri, 2019, Anales de Pediatría (English Edition).

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

César Martín, O. Hiort, E. Fernandez-Rebollo, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

A. Hattersley, S. Ellard, C. Shaw-Smith, 2014, Diabetes.

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

J. Castilla, H. Eraña, G. Perez de Nanclares, 2022, Journal of Neurology.

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

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in Medicine.

HLA‐DRB1 and MICA in Autoimmunity

J. Bilbao, Federico Vázquez, L. Castaño, 2003, Annals of the New York Academy of Sciences.

5′‐Insulin Gene VNTR Polymorphism Is Specific for Type 1 Diabetes

J. Bilbao, Federico Vázquez, L. Castaño, 2003, Annals of the New York Academy of Sciences.

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

A. Rothenbuhler, A. Linglart, D. Ertl, 2020, European journal of endocrinology.

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

G. Perez de Nanclares, I. Guerra, M. Vicente, 2013, The Journal of clinical endocrinology and metabolism.

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

B. Decallonne, A. Martin-Trujillo, D. Monk, 2016, Clinical Epigenetics.

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

S. Nik-Zainal, D. Feig, E. Anda, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.

J. Castilla, H. Eraña, U. Aguirre, 2022, Journal of neuropathology and experimental neurology.

Prenatal and foetal autopsy findings in glutaric aciduria type II

G. Perez de Nanclares, A. Sagasta, Rebeca Ruiz-Onandi, 2020, Birth defects research.

Congenital cutaneous ossification

J. Cardoso, S. Sousa, G. Perez de Nanclares, 2021, Journal of paediatrics and child health.

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

Yerai Vado, G. Perez de Nanclares, Africa Manero-Azua, 2023, Frontiers in Endocrinology.

Progressive osseous heteroplasia caused by a mosaic GNAS mutation

G. Perez de Nanclares, Javier Errea-Dorronsoro, I. Garin, 2018, Clinical endocrinology.

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

A. Linglart, G. Perez de Nanclares, V. Grybek, 2016, The Journal of clinical endocrinology and metabolism.

Short CommunicationNo Evidence of Association of CTLA4 Polymorphisms with Addison's Disease

Federico Vázquez, L. Castaño, G. Perez de Nanclares, 2004, Autoimmunity.

Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.

Joaquín Dopazo, Roger L Milne, Angel Carracedo, 2007, Cancer research.

Contribution of MIC‐A Polymorphism to Type 1 Diabetes Mellitus in Basques

J. Bilbao, L. Castaño, G. Perez de Nanclares, 2002, Annals of the New York Academy of Sciences.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Genome‐Wide Allelic Methylation Analysis Reveals Disease‐Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes

P. Lapunzina, D. Monk, F. Court, 2013, Human mutation.

Brachydactyly E: isolated or as a feature of a syndrome

B. Gener, G. Perez de Nanclares, M. García-Barcina, 2013, Orphanet Journal of Rare Diseases.

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

S. Gaztambide, E. Fernandez-Rebollo, L. Castaño, 2013, The Journal of clinical endocrinology and metabolism.

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

M. Fraga, M. Esteller, P. Lapunzina, 2016, American journal of medical genetics. Part A.

Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion

Yerai Vado, G. Perez de Nanclares, N. Gorría-Redondo, 2020, Genes.

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

B. Gener, Yerai Vado, G. Perez de Nanclares, 2018, BMC Medical Genomics.

Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

A. Ferguson-Smith, P. Lapunzina, J. Nevado, 2021, Journal of Medical Genetics.

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

A. Barlier, Stéphanie Maupetit-Méhouas, C. Reynès, 2013, Human mutation.

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity

H. Jüppner, Ashley H. Shoemaker, A. Rothenbuhler, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

B. Decallonne, A. Martin-Trujillo, D. Monk, 2016, Clinical Epigenetics.

Clinical and molecular description of 16 families with heterozygous IHH variants.

Gabriela A. Vasques, C. de la Torre, E. Vallespín, 2020, The Journal of clinical endocrinology and metabolism.

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

M. Tejada, O. Villate, A. B. de la Hoz, 2020, Frontiers in Neurology.

Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene

J. Bilbao, L. Castaño, J. Rodríguez-soriano, 2001, Pediatric Nephrology.

Permanent Neonatal Diabetes Caused by Creation of an Ectopic Splice Site within the INS Gene

L. Harries, Ó. Rubio-Cabezas, L. Castaño, 2012, PloS one.

Blood β-Synuclein and Neurofilament Light Chain During the Course of Prion Disease

A. Giese, J. Castilla, M. Beekes, 2022, Neurology.

Sporadic Creutzfeldt–Jakob disease with extremely long 14‐year survival period

J. Castilla, H. Eraña, Yerai Vado, 2021, European journal of neurology.

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

A. Carrascosa, L. Audí, L. Castaño, 2008, European Journal of Pediatrics.

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

G. Perez de Nanclares, J. Sánchez del Pozo, I. Garin, 2017, American journal of medical genetics. Part A.

New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

G. Perez de Nanclares, É. Santos, K. Heath, 2023, Frontiers in Genetics.

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

J. Argente, S. Shyng, L. Castaño, 2010, The Journal of clinical endocrinology and metabolism.

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

G. Perez de Nanclares, I. Esteban, J. Pozo-Kreilinger, 2018, Virchows Archiv.

[Brachydactyly type C due to a nonsense mutation in the GDF5 gene].

J. Argente, G. Perez de Nanclares, J. Pozo-Román, 2018, Anales de pediatria.

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

L. Castaño, G. Perez de Nanclares, Pilar Anton-Martin, 2011, European Journal of Pediatrics.

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

G. Perez de Nanclares, R. González‐Pérez, Z. Martínez de Lagrán, 2017, Pediatric dermatology.

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

Susan M. Gerber, D. Hardisson, G. Perez de Nanclares, 2017, Endocrinología Diabetes y Nutrición.

C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia

G. Perez de Nanclares, Izaro Kortazar-Zubizarreta, Africa Manero-Azua, 2023, Journal of personalized medicine.

Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation.

F. Arós, Yerai Vado, G. Perez de Nanclares, 2016, Revista espanola de cardiologia.

The Human Phenotype Ontology in 2024: phenotypes around the world

Benjamin M. Gyori, Julius O. B. Jacobsen, Janice M. Fullerton, 2023, Nucleic acids research.

Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature

A. Saâd, G. Perez de Nanclares, Javier Errea-Dorronsoro, 2018, Acta Diabetologica.

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)

Yerai Vado, G. Perez de Nanclares, Africa Manero-Azua, 2024, Genes.

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

S. Nik-Zainal, D. Feig, E. Anda, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.