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Guiomar Perez de Nanclares
Guiomar Perez de Nanclares
Instituto Investigación Sanitaria Bioaraba, Hospital Universitario Araba, Osakidetza
Verified email at osakidetza.eus
Title
Cited by
Cited by
Year
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
2672018
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
2182010
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
1852015
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
1662007
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
1432016
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
1392007
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
1072012
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
862006
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
802005
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
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
772016
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
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
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
572013
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
Simultaneous Hyper‐ and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of …
S Maupetit‐Méhouas, S Azzi, V Steunou, N Sakakini, C Silve, C Reynes, ...
Human mutation 34 (8), 1172-1180, 2013
542013
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