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Gustavo Pérez de Nanclares

Observed names: G. Pérez de Nanclares Leal, Gustavo Perez de Nanclares, Gustavo Perez de Nanclares Leal, Gustavo Perez-Nanclares, Gustavo Pérez De Nanclares, Gustavo Pérez-Nanclares, Gustavo Pérez‐Nanclares
Observed institutions: University of the Basque Country, Instituto de Salud Carlos III, BioCruces Health research Institute, Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas, Centre for Biomedical Network Research on Rare Diseases, Hospital de Cruces
ORCID: 0000-0002-1692-8976
Observed ORCID: 0000-0002-1692-8976
OpenAlex ID: A5043682120
Novel mutations in MEN1 , CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain
2011 · Oihana Belar, Carmen De La Hoz, et al. · Clinical Endocrinology · 71
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Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at theGNASLocus
2012 · Gustavo Perez-Nanclares, Valeria Romanelli, et al. · The Journal of Clinical Endocrinology & Metabolism · 47
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Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes
2013 · Donia Elhayek, Gustavo Perez de Nanclares, et al. · BMC Medical Genetics · 45
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Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
2017 · Alejandro García Castaño, Gustavo Pérez de Nanclares, et al. · PLoS ONE · 43
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Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?
2011 · Eduardo Fernández-Rebollo, Guiomar Pérez de Nanclares, et al. · Journal of Bone and Mineral Research · 42
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain
2005 · Juan Rodríguez-Soriano, Alfredo Vallo, et al. · Pediatric Nephrology · 41
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients
2008 · Intza Garin, Itxaso Rica, et al. · Clinical Endocrinology · 30
Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
2015 · Gustavo Perez-Nanclares, Teresa Velayos, et al. · PLoS ONE · 29
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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
2015 · RenalTube Group, Alejandro García Castaño, et al. · European Journal of Pediatrics · 28
Analysis of the Expression of MICA in Small Intestinal Mucosa of Patients with Celiac Disease
2003 · Ainhoa Martín-Pagola, Lourdes Ortiz, et al. · Journal of Clinical Immunology · 28
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study
2018 · Alejandro García-Castaño, Leire Madariaga, et al. · European Journal of Endocrinology · 22
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
2020 · Alejandro García-Castaño, Leire Madariaga, et al. · PLoS ONE · 19
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Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
2013 · Alejandro García Castaño, Gustavo Pérez de Nanclares, et al. · PLoS ONE · 17
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ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation
2008 · Diego Yeste, Cristina González-Niño, et al. · European Journal of Pediatrics · 17
Five patients with disorders of calcium metabolism presented with GCM2 gene variants
2021 · Alejandro García-Castaño, Leire Madariaga, et al. · Scientific Reports · 16
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Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene
2016 · Teresa Velayos, Gema Grau, et al. · Endocrinología y Nutrición · 16
Hyperhomocysteinemia in children with renal transplants
2002 · Luis Aldámiz-Echevarría, Pablo Sanjurjo, et al. · Pediatric Nephrology · 15
Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus
2020 · Alejandro García-Castaño, Leire Madariaga, et al. · The Journal of Clinical Endocrinology & Metabolism · 11
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A Novel Mutation in a Patient with Hyperparathyroidism–Jaw Tumour Syndrome
2016 · Virginia Bellido, Ihintza Larrañaga, et al. · Endocrine Pathology · 11
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome
2009 · Eduardo Fernández-Rebollo, Olga Pérez, et al. · European Journal of Endocrinology · 10
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
2023 · Alejandro García-Castaño, Sara Gómez-Conde, et al. · Scientific Reports · 6
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A new dominant branchiogenic‐deafness syndrome with internal auditory canal hypoplasia and abnormal extremities
2003 · André Mégarbané, Simon Rassi, et al. · American Journal of Medical Genetics Part A · 6
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine
2011 · Cristina Aparicio López, Pilar Anton-Martin, et al. · European Journal of Pediatrics · 5
Response to Letter to the Editor: “Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus
2020 · Alejandro García-Castaño, Leire Madariaga, et al. · The Journal of Clinical Endocrinology & Metabolism · 3
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Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
2018 · Alejandro García-Castaño, Leire Madariaga, et al. · Endocrinology Diabetes and Metabolism Case Reports · 3
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Works count: 35
Citation count: 591
H-index: 16
I10-index: 20
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