All Stories

  1. Genetic counselling in the era of next generation sequencing

    Article • Anales de Pediatría (English Edition), January 2025, Elsevier

    Dr Guiomar Perez de Nanclares

  2. Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)

    Article • Frontiers in Endocrinology, December 2024, Frontiers

    Dr Guiomar Perez de Nanclares

  3. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Article • Clinical Epigenetics, August 2024, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  4. Colonic adenomatous polyp with florid presence of monoclonal lambda Russell bodies: Case report and etiopathogenic hypothesis

    Article • Revista Española de Patología, April 2024, Elsevier

    Dr Guiomar Perez de Nanclares

  5. Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report

    Article • Journal of Pediatric Endocrinology and Metabolism, February 2024, De Gruyter

    Dr Guiomar Perez de Nanclares

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

    Article • Genes, January 2024, MDPI AG

    Dr Guiomar Perez de Nanclares

  7. Deficiencia de vitamina D en la edad adulta: presentación de 2 casos familiares de seudohipoparatiroidismo

    Article • Medicina Clínica, December 2023, Elsevier

    Dr Guiomar Perez de Nanclares

  8. The Human Phenotype Ontology in 2024: phenotypes around the world

    Article • Nucleic Acids Research, November 2023, Oxford University Press (OUP)

    Dr Guiomar Perez de Nanclares

  9. Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

    Article • Frontiers in Genetics, October 2023, Frontiers

    Dr Guiomar Perez de Nanclares

  10. El enigma de la enfermedad de Enrique IV, rey de Castilla: ¿padeció síndrome de McCune-Albright/displasia fibrosa?

    Article • Revista Española de Patología, October 2023, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • Journal of Personalized Medicine, September 2023, MDPI AG

    Dr Guiomar Perez de Nanclares

  12. Nutrition recommendations for patients with pseudohypoparathyroidism

    Article • Anales de Pediatría (English Edition), August 2023, Elsevier

    Dr Guiomar Perez de Nanclares

  13. Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations

    Article • European Journal of Endocrinology, July 2023, Oxford University Press (OUP)

    Dr Guiomar Perez de Nanclares

  14. Imprinting disorders

    Article • Nature Reviews Disease Primers, June 2023, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

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

    Article • Frontiers in Genetics, April 2023, Frontiers

    Dr Guiomar Perez de Nanclares

  16. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

    Article • Journal of Endocrinological Investigation, February 2023, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

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

    Article • Frontiers in Endocrinology, January 2023, Frontiers

    Dr Guiomar Perez de Nanclares

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

    Article • Journal of Neuropathology & Experimental Neurology, December 2022, Oxford University Press (OUP)

    Dr Guiomar Perez de Nanclares

  19. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    Article • Clinical Epigenetics, November 2022, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

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

    Article • Genetics in Medicine, November 2022, Elsevier

    Dr Karen W Gripp, Dr Guiomar Perez de Nanclares

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

    Article • Neurology, April 2022, Wolters Kluwer Health

    Dr Guiomar Perez de Nanclares

  22. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

    Article • Clinical Epigenetics, March 2022, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  23. Congenital cutaneous ossification

    Article • Journal of Paediatrics and Child Health, October 2021, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • European Journal of Neurology, June 2021, Wiley

    Dr Guiomar Perez de Nanclares

  25. Gernutik lortutako zelula ama mesenkimalak (hUSC) pseudohipoparatiroidismoaren (PHP) terapia geniko ez-biralerako

    Article • June 2021, Udako Euskal Unibertsitatea

    Dr Guiomar Perez de Nanclares

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

    Article • Pharmaceutics, May 2021, MDPI AG

    Dr Guiomar Perez de Nanclares

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

    Article • European Journal of Endocrinology, February 2021, Oxford University Press (OUP)

    Dr Guiomar Perez de Nanclares

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

    Article • Genes, December 2020, MDPI AG

    Dr Guiomar Perez de Nanclares

  29. Prenatal and foetal autopsy findings in glutaric aciduria type II

    Article • Birth Defects Research, September 2020, Wiley

    Dr Guiomar Perez de Nanclares

  30. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    Article • The Journal of Clinical Endocrinology & Metabolism, April 2020, Endocrine Society

    Dr Guiomar Perez de Nanclares

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

    Article • Frontiers in Neurology, February 2020, Frontiers

    Dr Guiomar Perez de Nanclares

  32. Glucose and galactose malabsorption: A new case in Spain

    Article • Anales de Pediatría (English Edition), February 2020, Elsevier

    Dr Guiomar Perez de Nanclares

  33. Malabsorción de glucosa y galactosa. Nuevo caso en España

    Article • Anales de Pediatría, February 2020, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • Orphanet Journal of Rare Diseases, April 2019, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  35. Implicaciones en pediatría del primer consenso internacional para el diagnóstico y asistencia a pacientes con pseudohipoparatiroidismo y enfermedades relacionadas

    Article • Anales de Pediatría, February 2019, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • Anales de Pediatría (English Edition), February 2019, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • BMC Medical Genomics, December 2018, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  38. Impaired proteostasis in rare neurological diseases

    Article • Seminars in Cell and Developmental Biology, November 2018, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • Virchows Archiv, July 2018, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  40. Craniofacial fibrous dysplasia and long-term untreated GH excess in McCune-Albright syndrome

    Article • Endocrine Abstracts, May 2018, Bioscientifica

    Dr Guiomar Perez de Nanclares

  41. Progressive osseous heteroplasia caused by a mosaic GNAS mutation

    Article • Clinical Endocrinology, March 2018, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • BMC Medical Genetics, March 2018, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

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

    Article • Anales de Pediatría, February 2018, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • Anales de Pediatría (English Edition), February 2018, Elsevier

    Dr Guiomar Perez de Nanclares

  45. The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation

    Article • January 2018, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

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

    Article • Human Molecular Genetics, July 2017, Oxford University Press (OUP)

    Dr Guiomar Perez de Nanclares

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

    Article • Endocrinología Diabetes y Nutrición, June 2017, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • American Journal of Medical Genetics Part A, February 2017, Wiley

    Dr Guiomar Perez de Nanclares

  49. Fe de errores de «Seudoseudohipoparatiroidismo frente a heteroplasia ósea progresiva en ausencia de historia familiar» [Med Clin (Barc). 2015;145(10):e25-e27]

    Article • Medicina Clínica, February 2017, Elsevier

    Dr Guiomar Perez de Nanclares

  50. Erratum to “Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history” [Med Clin (Barc). 2015;145(10):e25–e27]

    Article • Medicina Clínica (English Edition), February 2017, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • Pediatric Dermatology, December 2016, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • The Journal of Clinical Endocrinology & Metabolism, October 2016, Endocrine Society

    Dr Guiomar Perez de Nanclares

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

    Article • American Journal of Medical Genetics Part A, August 2016, Wiley

    Dr Guiomar Perez de Nanclares

  54. From pseudohypoparathyroidism to inactivating PTH/PTHrP signaling disorder (iPPSD), a novel classification proposed by the European EuroPHP-network

    Article • Endocrine Abstracts, May 2016, Bioscientifica

    Dr Guiomar Perez de Nanclares

  55. The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network

    Article • Endocrine Abstracts, May 2016, Bioscientifica

    Dr Guiomar Perez de Nanclares

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

    Article • Revista Española de Cardiología (English Edition), May 2016, Elsevier

    Dr Guiomar Perez de Nanclares

  57. Síndrome de Marfan causado por mosaicismo somático de una mutación en splicing en FBN1

    Article • Revista Española de Cardiología, May 2016, Elsevier

    Dr Guiomar Perez de Nanclares

  58. Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Article • Clinical Epigenetics, March 2016, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

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

    Article • Clinical Epigenetics, January 2016, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  60. Report of two novel mutations inPTHLHassociated with brachydactyly type E and literature review

    Article • American Journal of Medical Genetics Part A, December 2015, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • Clinical Epigenetics, November 2015, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  62. Seudoseudohipoparatiroidismo frente a heteroplasia ósea progresiva en ausencia de historia familiar

    Article • Medicina Clínica, November 2015, Elsevier

    Dr Guiomar Perez de Nanclares

  63. Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history

    Article • Medicina Clínica (English Edition), November 2015, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • European Journal of Human Genetics, April 2015, Nature

    Dr Guiomar Perez de Nanclares

  65. Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms

    Article • The Journal of Clinical Endocrinology & Metabolism, April 2015, Endocrine Society

    Dr Guiomar Perez de Nanclares

  66. Multilocus methylation defects in imprinting disorders

    Article • BioMolecular Concepts, January 2015, De Gruyter

    Dr Guiomar Perez de Nanclares

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

    Article • European Journal of Human Genetics, July 2014, Nature

    Dr Guiomar Perez de Nanclares

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

    Article • Diabetes, April 2014, American Diabetes Association

    Dr Guiomar Perez de Nanclares

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

    Article • European Journal of Human Genetics, February 2014, Nature

    Dr Guiomar Perez de Nanclares

  70. Pseudohypoparathyrodism vs. tricho-rhino-phalangeal syndrome: patient reclassification

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2014, De Gruyter

    Dr Guiomar Perez de Nanclares

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

    Article • Neuromuscular Disorders, January 2014, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • Molecular Syndromology, November 2013, Karger Publishers

    Dr Guiomar Perez de Nanclares

  73. Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

    Article • Human Mutation, May 2013, Wiley

    Dr Guiomar Perez de Nanclares

  74. Disomy as the Genetic Underlying Mechanisms of Loss of Heterozigosity in SDHD-Paragangliomas

    Article • The Journal of Clinical Endocrinology & Metabolism, May 2013, Endocrine Society

    Dr Guiomar Perez de Nanclares

  75. Endocrine Profile and Phenotype-(Epi)Genotype Correlation in Spanish Patients with Pseudohypoparathyroidism

    Article • The Journal of Clinical Endocrinology & Metabolism, May 2013, Endocrine Society

    Dr Guiomar Perez de Nanclares

  76. GNAS (GNAS complex locus)

    Article • Atlas of Genetics and Cytogenetics in Oncology and Haematology, March 2013, INIST-CNRS

    Dr Guiomar Perez de Nanclares

  77. Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes

    Article • Human Mutation, February 2013, Wiley

    Dr Guiomar Perez de Nanclares

  78. Brachydactyly E: isolated or as a feature of a syndrome

    Article • Orphanet Journal of Rare Diseases, January 2013, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  79. PRKAR1AandPDE4DMutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

    Article • The Journal of Clinical Endocrinology & Metabolism, December 2012, Endocrine Society

    Dr Guiomar Perez de Nanclares

  80. Clinical utility gene card for: Pseudohypoparathyroidism

    Article • European Journal of Human Genetics, September 2012, Nature

    Dr Guiomar Perez de Nanclares

  81. Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review

    Article • Clinical Dysmorphology, July 2012, Wolters Kluwer Health

    Dr Guiomar Perez de Nanclares

  82. Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at theGNASLocus

    Article • The Journal of Clinical Endocrinology & Metabolism, June 2012, Endocrine Society

    Dr Guiomar Perez de Nanclares

  83. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Article • Clinical Endocrinology, April 2012, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • PLOS One, January 2012, PLOS

    Dr Guiomar Perez de Nanclares

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

    Article • Journal of Bone and Mineral Research, July 2011, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • Journal of Bone and Mineral Research, July 2011, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • European Journal of Pediatrics, June 2011, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  88. Diferente expresividad de la mutacion Asn264LysfsX35 del gen GNAS en una familia afecta de pseudohipoparatiroidismo

    Article • Anales de Pediatría, February 2011, Elsevier

    Dr Guiomar Perez de Nanclares

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

    Article • The Journal of Clinical Endocrinology & Metabolism, December 2010, Endocrine Society

    Dr Guiomar Perez de Nanclares

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

    Article • Journal of Medical Genetics, November 2010, BMJ

    Dr Guiomar Perez de Nanclares

  91. Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations

    Article • American Journal of Medical Genetics Part A, October 2010, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • Endocrine Reviews, October 2010, Endocrine Society

    Dr Guiomar Perez de Nanclares

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

    Article • Molecular Endocrinology, October 2010, Endocrine Society

    Dr Guiomar Perez de Nanclares

  94. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    Article • European Journal of Endocrinology, September 2010, Bioscientifica

    Dr Guiomar Perez de Nanclares

  95. Heterozygous glucokinase mutations and birth weight in Spanish children

    Article • Diabetic Medicine, April 2010, Wiley

    Dr Guiomar Perez de Nanclares

  96. IntragenicGNASDeletion 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

    Article • The Journal of Clinical Endocrinology & Metabolism, February 2010, Endocrine Society

    Dr Guiomar Perez de Nanclares

  97. IntragenicGNASDeletion 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

    Article • Endocrine Reviews, February 2010, Endocrine Society

    Dr Guiomar Perez de Nanclares

  98. The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP-binding residue

    Article • Diabetic Medicine, February 2010, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • Proceedings of the National Academy of Sciences, January 2010, Proceedings of the National Academy of Sciences

    Dr Guiomar Perez de Nanclares

  100. Familial Hyperinsulinism-Hyperammonemia Syndrome in a Family with Seizures: Case Report

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2010, De Gruyter

    Dr Guiomar Perez de Nanclares

  101. IntragenicGNASDeletion 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

    Article • Molecular Endocrinology, January 2010, Endocrine Society

    Dr Guiomar Perez de Nanclares

  102. HETEROZYGOUS GLUCOKINASE MUTATIONS AND BIRTH WEIGHT IN SPANISH CHILDREN.

    Article • Diabetic Medicine, December 2009, Wiley

    Dr Guiomar Perez de Nanclares

  103. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs  coding mutations and GNAS imprinting defects

    Article • Journal of Medical Genetics, October 2009, BMJ

    Dr Guiomar Perez de Nanclares

  104. Mutations inMAFAandIAPPare not a common cause of monogenic diabetes

    Article • Diabetic Medicine, July 2009, Wiley

    Dr Guiomar Perez de Nanclares

  105. Glibenclamide treatment in relapsed transient neonatal diabetes as a result of aKCNJ11activating mutation (N48D)

    Article • Diabetic Medicine, May 2009, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • European Journal of Endocrinology, March 2009, Bioscientifica

    Dr Guiomar Perez de Nanclares

  107. Genética del seudohipoparatiroidismo: bases para el consejo genético

    Article • Endocrinología y Nutrición, December 2008, Elsevier

    Dr Guiomar Perez de Nanclares

  108. New mutation type in pseudohypoparathyroidism type Ia

    Article • Clinical Endocrinology, November 2008, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • Clinical Endocrinology, June 2008, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • European Journal of Pediatrics, April 2008, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

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

    Article • Cancer Research, October 2007, American Association for Cancer Research (AACR)

    Dr Guiomar Perez de Nanclares

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

    Article • Diabetic Medicine, July 2007, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • Clinical Endocrinology, June 2007, Wiley

    Dr Guiomar Perez de Nanclares

  114. Epigenetic Defects ofGNASin Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

    Article • The Journal of Clinical Endocrinology & Metabolism, June 2007, Endocrine Society

    Dr Guiomar Perez de Nanclares

  115. New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features

    Article • Diabetes, March 2007, American Diabetes Association

    Dr Guiomar Perez de Nanclares

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

    Article • Genes & Immunity, January 2007, Nature

    Dr Guiomar Perez de Nanclares

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

    Article • Autoimmunity, January 2007, Taylor & Francis

    Dr Guiomar Perez de Nanclares

  118. Panhypopituitarism: Genetic Versus Acquired Etiological Factors

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2007, De Gruyter

    Dr Guiomar Perez de Nanclares

  119. No Association of TLR2 and TLR4 Polymorphisms with Type I Diabetes Mellitus in the Basque Population

    Article • Annals of the New York Academy of Sciences, October 2006, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • Pflügers Archiv - European Journal of Physiology, September 2006, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

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

    Article • Genes & Immunity, August 2006, Nature

    Dr Guiomar Perez de Nanclares, Dr Ana Maria Aransay

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

    Article • The Journal of Clinical Endocrinology & Metabolism, May 2006, Endocrine Society

    Dr Guiomar Perez de Nanclares

  123. Contribution of MIC-A Polymorphism to Type 1 Diabetes Mellitus in Basques

    Article • Annals of the New York Academy of Sciences, January 2006, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • Human Immunology, January 2006, Elsevier

    Dr Guiomar Perez de Nanclares

  125. Neoplasia endocrina múltiple: estudio genético

    Article • Endocrinología y Nutrición, May 2005, Elsevier

    Dr Guiomar Perez de Nanclares

  126. Heterogeneity of vitamin D receptor gene association with celiac disease and type 1 diabetes mellitus

    Article • Autoimmunity, January 2005, Taylor & Francis

    Dr Guiomar Perez de Nanclares

  127. No Association ofINS-VNTR Genotype and IAA Autoantibodies

    Article • Annals of the New York Academy of Sciences, December 2004, Wiley

    Dr Guiomar Perez de Nanclares

  128. Short CommunicationNo Evidence of Association ofCTLA4Polymorphisms with Addison's Disease

    Article • Autoimmunity, September 2004, Taylor & Francis

    Dr Guiomar Perez de Nanclares

  129. 5′-Insulin Gene VNTR Polymorphism Is Specific for Type 1 Diabetes

    Article • Annals of the New York Academy of Sciences, November 2003, Wiley

    Dr Guiomar Perez de Nanclares

  130. HLA-DRB1 andMICAin Autoimmunity

    Article • Annals of the New York Academy of Sciences, November 2003, Wiley

    Dr Guiomar Perez de Nanclares

  131. No Association of CTLA4 Gene With Celiac Disease in the Basque Population

    Article • Journal of Pediatric Gastroenterology and Nutrition, August 2003, Wolters Kluwer Health

    Dr Guiomar Perez de Nanclares

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

    Article • Clinical Genetics, April 2003, Wiley

    Dr Guiomar Perez de Nanclares

  133. Familial hypercalcemia and hypercalciuria: no mutations in the Ca 2+ -sensing receptor gene

    Article • Pediatric Nephrology, September 2001, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  134. Analysis of Chromosome 6q in Basque Families with Type 1 Diabetes

    Article • Autoimmunity, January 2001, Taylor & Francis

    Dr Guiomar Perez de Nanclares

  135. Excess Iron Storage in Patients with Type 2 Diabetes Unrelated to Primary Hemochromatosis

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, September 2000, New England Journal of Medicine (NEJM/MMS)

    Dr Guiomar Perez de Nanclares

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

    Article • Clinical Endocrinology, March 1999, Wiley

    Dr Guiomar Perez de Nanclares

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

    Article • Diabetologia, January 1999, Springer Science + Business Media

    Dr Guiomar Perez de Nanclares

  138. A case of Prader-Willi syndrome associated with mosaicism: Cytogenetic and FISH study.

    Article • Genes & Genetic Systems, January 1996, Genetics Society of Japan

    Dr Guiomar Perez de Nanclares