Suivre
Guiomar Perez de Nanclares
Guiomar Perez de Nanclares
Instituto Investigación Sanitaria Bioaraba, Hospital Universitario Araba, Osakidetza
Adresse e-mail validée de osakidetza.eus
Titre
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Année
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
G Mantovani, M Bastepe, D Monk, L De Sanctis, S Thiele, A Usardi, ...
Nature Reviews Endocrinology 14 (8), 476-500, 2018
2742018
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
I Garin, EL Edghill, I Akerman, O Rubio-Cabezas, I Rica, JM Locke, ...
Proceedings of the National Academy of Sciences 107 (7), 3105-3110, 2010
2192010
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
T Eggermann, GP de Nanclares, ER Maher, IK Temple, Z Tümer, D Monk, ...
Clinical epigenetics 7 (1), 123, 2015
1912015
Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy
GP de Nanclares, E Fernández-Rebollo, I Santin, B Garcia-Cuartero, ...
The Journal of Clinical Endocrinology & Metabolism 92 (6), 2370-2373, 2007
1682007
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network
S Thiele, G Mantovani, A Barlier, V Boldrin, P Bordogna, L De Sanctis, ...
European journal of endocrinology 175 (6), P1-P17, 2016
1442016
Mutations in GCK and HNF‐1α explain the majority of cases with clinical diagnosis of MODY in Spain
I Estalella, I Rica, GP De Nanclares, JR Bilbao, JA Vazquez, JI San Pedro, ...
Clinical endocrinology 67 (4), 538-546, 2007
1412007
GATA4 mutations are a cause of neonatal and childhood-onset diabetes
C Shaw-Smith, E De Franco, HL Allen, M Batlle, SE Flanagan, ...
Diabetes 63 (8), 2888-2894, 2014
1362014
PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance
A Linglart, H Fryssira, O Hiort, PM Holterhus, G Perez de Nanclares, ...
The Journal of Clinical Endocrinology & Metabolism 97 (12), E2328-E2338, 2012
1082012
New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features
M Vaxillaire, A Dechaume, K Busiah, H Cavé, S Pereira, R Scharfmann, ...
Diabetes 56 (6), 1737-1741, 2007
1022007
Functional Study of a Novel Single Deletion in the TITF1/NKX2.1 Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not …
CM Moya, G Perez de Nanclares, L Castaño, N Potau, JR Bilbao, ...
The Journal of Clinical Endocrinology & Metabolism 91 (5), 1832-1841, 2006
872006
New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
E Fernández-Rebollo, B Lecumberri, I Garin, J Arroyo, A Bernal-Chico, ...
European journal of endocrinology 163 (6), 953-962, 2010
822010
Heterogeneity of vitamin D receptor gene association with celiac disease and type 1 diabetes mellitus
JIS Pedro, JR Bilbao, G Perez de Nanclares, JC Vitoria, P Martul, ...
Autoimmunity 38 (6), 439-444, 2005
812005
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network
FM Elli, A Linglart, I Garin, L De Sanctis, P Bordogna, V Grybek, A Pereda, ...
The Journal of Clinical Endocrinology & Metabolism 101 (10), 3657-3668, 2016
792016
Genome‐wide allelic methylation analysis reveals disease‐specific susceptibility to multiple methylation defects in imprinting syndromes
F Court, A Martin‐Trujillo, V Romanelli, I Garin, I Iglesias‐Platas, ...
Human mutation 34 (4), 595-602, 2013
792013
Functional analysis of six Kir6. 2 (KCNJ11) mutations causing neonatal diabetes
CAJ Girard, K Shimomura, P Proks, N Absalom, L Castano, ...
Pflügers Archiv 453 (3), 323-332, 2006
732006
Killer cell immunoglobulin-like receptor (KIR) genes in the Basque population: association study of KIR gene contents with type 1 diabetes mellitus
I Santin, GP de Nanclares, B Calvo, A Gaafar, L Castaño, JR Bilbao, ...
Human immunology 67 (1-2), 118-124, 2006
652006
Endocrine profile and phenotype-(epi) genotype correlation in Spanish patients with pseudohypoparathyroidism
E Fernández-Rebollo, B Lecumberri, S Gaztambide, L Martinez-Indart, ...
The Journal of Clinical Endocrinology & Metabolism 98 (5), E996-E1006, 2013
582013
Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease
JR Bilbao, B Calvo, AM Aransay, A Martin-Pagola, G Perez de Nanclares, ...
Genes & Immunity 7 (7), 550-554, 2006
582006
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
G Mantovani, M Bastepe, D Monk, L De Sanctis, S Thiele, SF Ahmed, ...
Hormone research in paediatrics 93 (3), 182-196, 2020
562020
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus
C Zazo, S Thiele, C Martín, E Fernandez‐Rebollo, L Martinez‐Indart, ...
Journal of Bone and Mineral Research 26 (8), 1864-1870, 2011
562011
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