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Author Details

Guiomar Perez de Nanclares
Bioaraba Health Research Institute, Araba University Hospital
1997
131
30
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
36458954Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.J Neuropathol Exp Neurol2023
37854056Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?Front Genet2023
37481364Nutrition recommendations for patients with pseudohypoparathyroidism.An Pediatr (Engl Ed)2023
37500374[Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism].Med Clin (Barc)2023
37763163<i>C9ORF72</i> Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia.J Pers Med2023
37124614New pathogenic variant in <i>DLX5</i>: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly.Front Genet2023
37386011Imprinting disorders.Nat Rev Dis Primers2023
37440712Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.Eur J Endocrinol2023
36749450Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.J Endocrinol Invest2023
36686455Frequency of <i>de novo</i> variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.Front Endocrinol (Lausanne)2023
34706128Congenital cutaneous ossification.J Paediatr Child Health2022
35551352Albright's hereditary osteodystrophy: an entity to recognize.Rheumatology (Oxford)2022
35643636Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.Clin Epigenetics2022
36075656[Familial endometrial adenocarcinoma: MSH6 variant of unknown significance in the presence of phenocopy, what should be done?]Rev Esp Patol2022
36345041First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Clin Epigenetics2022
36083290Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.Genet Med2022
33579810Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.J Med Genet2022
35110380Blood β-Synuclein and Neurofilament Light Chain During the Course of Prion Disease.Neurology2022
35296332Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.Clin Epigenetics2022
35294616Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.J Neurol2022
33270042Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.Eur J Endocrinol2021
34064902Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells.Pharmaceutics2021
34060706Sporadic Creutzfeldt-Jakob disease with extremely long 14-year survival period.Eur J Neurol2021
30665858[Glucose and galactose malabsorption: A new case in Spain].An Pediatr (Engl Ed)2020
33291420Novel Variant in <i>PLAG1</i> in a Familial Case with Silver-Russell Syndrome Suspicion.Genes (Basel)2020
32959991Prenatal and foetal autopsy findings in glutaric aciduria type II.Birth Defects Res2020
32311039Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.J Clin Endocrinol Metab2020
32117010Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.Front Neurol2020
30355526Impaired proteostasis in rare neurological diseases.Semin Cell Dev Biol2019
30808399Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction.Clin Epigenetics2019
30995915Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.Orphanet J Rare Dis2019
30315371Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature.Acta Diabetol2019
30591400[Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders].An Pediatr (Engl Ed)2019
29464731Progressive osseous heteroplasia caused by a mosaic GNAS mutation.Clin Endocrinol (Oxf)2018
30243379Wind of change in pseudohypoparathyroidism and related disorders: New classification and first international management consensus.Endocrinol Diabetes Nutr (Engl Ed)2018
29959430Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nat Rev Endocrinol2018
29984378Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review.Virchows Arch2018
30665554Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs).Best Pract Res Clin Endocrinol Metab2018
30587166Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.BMC Med Genomics2018
28391997[Brachydactyly type C due to a nonsense mutation in the GDF5 gene].An Pediatr (Engl Ed)2018
29499646What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.BMC Med Genet2018
29693731Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.J Bone Miner Res2018
29605849The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation.Methods Mol Biol2018
28073519Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history».Med Clin (Barc)2017
28211986The p.R56* mutation in PTHLH causes variable brachydactyly type E.Am J Med Genet A2017
29056280Intratumoral activating GNAS (R201C) mutation in two unrelated patients with virilizing ovarian Leydig cell tumors.Endocrinol Diabetes Nutr2017
29292871The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations.Pediatr Endocrinol Rev2017
29016851Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.Hum Mol Genet2017
27981619Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene.Pediatr Dermatol2017
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McGill University, Canada Shriners Hospital for Children-Canada
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Jon R Davids
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Release 1.2