Guiomar Pérez de Nanclares

Author

Also Known As

D Perez, D Pérez, D. Perez, D. Pérez, Eneritz Rueda-Alaña, G Perez de Nanclares, G Pérez de Nanclares, G. P. De Nanclares, G. P. de Nanclares, G. Perez De Nanclares

213

Publications

5.2K

Citations

H-Index

Concepts

All Affiliations

Hospital de Cruces Hospital Universitario Araba University of the Basque Country Hospital Txagorritxu Centre for Biomedical Network Research on Rare Diseases

About

Guiomar Pérez de Nanclares is an author at Hospital de Cruces specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	15	648
2	Natural Sciences	3	3	138
3	Allergy	1	1	24
4	Biochemistry	1	1	82
5	Cell Biology	1	1	22

Guiomar Pérez de Nanclares

Publications

3.1K

Citations

H-Index

Page 1

	Year	Citations
The Human Phenotype Ontology in 2024: phenotypes around the world Michael Gargano, Nicolas Matentzoglu, Ben Coleman, Nucleic Acids Research	2023	311
Epigenetic Defects of<i>GNAS</i>in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy Guiomar Pérez de Nanclares, Eduardo Fernández‐Rebollo, Izortze Santín, The Journal of Clinical Endocrinology & Metabolism	2007	160
<i>GATA4</i> Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes Charles Shaw‐Smith, Elisa De Franco, Hana Lango Allen, Diabetes	2014	127
<i>PRKAR1A</i>and<i>PDE4D</i>Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance Agnès Linglart, Helena Fryssira, Olaf Hiort, The Journal of Clinical Endocrinology & Metabolism	2012	108
New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism Eduardo Fernández‐Rebollo, Beatriz Lecumberri, Intza Garin, European Journal of Endocrinology	2010	107
Mutations in <i>GCK</i> and <i>HNF‐1α</i> explain the majority of cases with clinical diagnosis of MODY in Spain Itziar Estalella, Itxaso Rica, Guiomar Pérez de Nanclares, Clinical Endocrinology	2007	105
Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes Franck Court, Álex Martín-Trujillo, Valeria Romanelli, Human Mutation Epigenetic ChangeGeneticsDna MethylationPathologyMethylation Defects	2013	100
Functional Study of a Novel Single Deletion in the<i>TITF1/NKX2.1</i>Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress Christian M. Moya, Guiomar Pérez de Nanclares, Luís Castaño, The Journal of Clinical Endocrinology & Metabolism	2006	84
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network Francesca Marta Elli, Agnès Linglart, Intza Garin, The Journal of Clinical Endocrinology & Metabolism	2016	83
New <i>ABCC8</i> Mutations in Relapsing Neonatal Diabetes and Clinical Features Martine Vaxillaire, Aurélie Dechaume, Kanetee Busiah, Diabetes GeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene IdentificationInsulin Signaling	2007	82

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