Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome von Elalaoui, S.C., Garin, I., Sefiani, A., Perez de Nanclares, G.

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Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4 von Santin, I, Castellanos-Rubio, A, Perez de Nanclares, G, Vitoria, J C, Castaño, L, Bilbao, J R

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Neonatal Diabetes With End-Stage Nephropathy: Pancreas transplantation decision von Esmatjes, Enric, Jimenez, Amanda, Diaz, Gonzalo, Mora, Mireia, Casamitjana, Roser, Pérez de Nanclares, G, Castaño, Luis, José Ricart, Maria

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Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease von Bilbao, J R, Calvo, B, Aransay, A M, Martin-Pagola, A, Perez de Nanclares, G, Aly, T A, Rica, I, Vitoria, J C, Gaztambide, S, Noble, J, Fain, P R, Awdeh, Z L, Alper, C A, Castaño, L

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Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract von Madariaga, Leire, García-Castaño, Alejandro, Ariceta, Gema, Martínez-Salazar, Rosa, Aguayo, Aníbal, Castaño, Luis

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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects von Lecumberri, B, Fernández-Rebollo, E, Sentchordi, L, Saavedra, P, Bernal-Chico, A, Pallardo, L F, Bustos, J M Jiménez, Castaño, L, de Santiago, M, Hiort, O, Pérez de Nanclares, G, Bastepe, M

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Heterogeneity of vitamin D receptor gene association with celiac disease and type 1 diabetes mellitus von Pedro, J.I. San, Bilbao, J.R., Perez de Nanclares, G., Vitoria, J.C., Martul, P., Castaño, L.

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Mutations in MAFA and IAPP are not a common cause of monogenic diabetes von Garin, I., Martinez, R., De Las Heras, J., Perez-Nanclares, G., Castano, L., Perez de Nanclares, G.

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Glibenclamide treatment in relapsed transient neonatal diabetes as a result of a KCNJ11 activating mutation (N48D) von Martín-Frías, M., Colino, E., Pérez de Nanclares, G., Alonso, M., Ros, P., Barrio, R.

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PO-0786 Prenatal Diagnosis Of Glomerulocystic Kidney Disease Due To Mutation Hnf 1b. Importance Of Genetic Test von Len Aguilera, JC, Salado Marín, C, Montiano Jorge, JI, Perez de Nanclares Leal, G

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The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities von Rica, I., Luzuriaga, C., Pérez de Nanclares, G., Estalella, I., Aragonés, A., Barrio, R., Bilbao, J. R., Carlés, C., Fernández, C., Fernández, J. M., Fernández-Rebollo, E., Gastaldo, E., Giralt, P, Gomez Vida, J. M., Gutiérrez, A., López Siguero, J. P., Martínez-Aedo, M. J., Muñoz, M., Prieto, J., Rodrigo, J., Vargas, F., Castano, L.

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Diferente expresividad de la mutacion Asn264LysfsX35 del gen GNAS en una familia afecta de pseudohipoparatiroidismo von de Arriba Muñoz, A, Labarta Aizpún, J.I, Dehesa, E. Mayayo, Calvo, M.T, Pérez de Nanclares, G, Ferrández-Longás, A

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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects von Lecumberri, B, Fernández-Rebollo, E, Sentchordi, L, Saavedra, P, Bernal-Chico, A, Pallardo, L F, Bustos, J M Jiménez, Castaño, L, de Santiago, M, Hiort, O, Pérez de Nanclares, G, Bastepe, M

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Hipercalcemia hipocalciúrica familiar: a propósito de una nueva mutación von Ubetagoyena Arrieta, M, Castaño González, L, Pérez de Nanclares Leal, G, Arruebarrena Lizarraga, D, Imaz Murguiondo, M, Areses Trapote, R

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Tailles finales et IMC chez les patients atteints de différents types de pseudohypoparathyroïdie von Hanna, P, Mantovani, G, Grybek, V, Jueppner, H, Brehin, A.C, Kottler, M.L, Rothenbuhler, A, De Nanclares, G. Perez, Linglart, A

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Inactivating PTH/PTHrP Signalling Disorder (iPPSD), une nouvelle proposition de classification pour les pseudohypoparathyroïdies par le réseau européen EuroPHP von Thiele, S, Mantovani, G, Barlier, A, De Sanctis, L, Freson, K, Garin, I, Hanna, P, Lecumberri, B, Pereda, A, Saraff, V, Silve, C, Turan, S, Usardi, A, De Nanclares, G. Perez, Linglart, A

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Nonisotopic, PCR-Based Method for 5¢ Insulin Gene VNTR Allele Class Assignment von Calvo, B, Bilbao, J.R, Nanclares, G. Pérez de, Vázquez, J.A, Castaño, L

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Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism. von de Arriba Muñoz, A, Labarta Aizpún, J I, Dehesa, E Mayayo, Calvo, M T, Pérez de Nanclares, G, Ferrández-Longás, A

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Malabsorción de glucosa y galactosa. Nuevo caso en España von Lodoso-Torrecilla, Blanca, Perez de Nanclares, Guiomar, Garin, Intza, Calvo-Saez, Ariane, Martinez-Fernandez de Pinedo, Idoya

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Prenatal diagnosis of glomerulocystic kidney disease due to mutation hnf 1b: importance of genetic test von Aguilera, JC Len, Marin, C Salado, Jorge, JI Montiano, Leal, G Perez de Nanclares

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