Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review
Thomas-Teinturier, Cecile, Pereda, Arrate, Garin, Intza, Diez-Lopez, Ignacio, Linglart, Agnès, Silve, Caroline, de Nanclares, Guiomar Pérez
Published in American journal of medical genetics. Part A (01.03.2016)
Published in American journal of medical genetics. Part A (01.03.2016)
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Journal Article
Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review
Lecumberri, Beatriz, Pozo-Kreilinger, José Juan, Esteban, Isabel, Gomes, Mariana, Royo, Aránzazu, Gómez de la Riva, Álvaro, Pérez de Nanclares, Guiomar
Published in Virchows Archiv : an international journal of pathology (01.11.2018)
Published in Virchows Archiv : an international journal of pathology (01.11.2018)
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Journal Article
New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
Fernández-Rebollo, Eduardo, Lecumberri, Beatriz, Garin, Intza, Arroyo, Javier, Bernal-Chico, Ana, Goñi, Fernando, Orduña, Rosa, Castaño, Luis, Pérez de Nanclares, Guiomar
Published in European journal of endocrinology (01.12.2010)
Published in European journal of endocrinology (01.12.2010)
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Journal Article
Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy
de Nanclares, Guiomar Pérez, Fernández-Rebollo, Eduardo, Santin, Izortze, García-Cuartero, Beatriz, Gaztambide, Sonia, Menéndez, Edelmiro, Morales, Maria Jose, Pombo, Manuel, Bilbao, José Ramón, Barros, Francisco, Zazo, Nuria, Ahrens, Wiebke, Jüppner, Harald, Hiort, Olaf, Castaño, Luis, Bastepe, Murat
Published in The journal of clinical endocrinology and metabolism (01.06.2007)
Published in The journal of clinical endocrinology and metabolism (01.06.2007)
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Journal Article
Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B
Fernandez-Rebollo, Eduardo, García-Cuartero, Beatriz, Garin, Intza, Largo, Cristina, Martínez, Francisco, Garcia-Lacalle, Concepcion, Castaño, Luis, Bastepe, Murat, Pérez de Nanclares, Guiomar
Published in The journal of clinical endocrinology and metabolism (01.02.2010)
Published in The journal of clinical endocrinology and metabolism (01.02.2010)
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Journal Article
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances
Monteagudo-Sánchez, Ana, Hernandez Mora, Jose Ramon, Simon, Carlos, Burton, Adam, Tenorio, Jair, Lapunzina, Pablo, Clark, Stephen, Esteller, Manel, Kelsey, Gavin, López-Siguero, Juan Pedro, de Nanclares, Guiomar Perez, Torres-Padilla, Maria-Elena, Monk, David
Published in Nucleic acids research (18.11.2020)
Published in Nucleic acids research (18.11.2020)
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Journal Article
Exclusion of the GNAS locus in PHP‐Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP‐Ib?
Fernández‐Rebollo, Eduardo, Pérez de Nanclares, Guiomar, Lecumberri, Beatriz, Turan, Serap, Anda, Emma, Pérez‐Nanclares, Gustavo, Feig, Denice, Nik‐Zainal, Serena, Bastepe, Murat, Jüppner, Harald
Published in Journal of bone and mineral research (01.08.2011)
Published in Journal of bone and mineral research (01.08.2011)
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Journal Article
Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report
Expósito Raspeño, Mónica, Sánchez Escudero, Verónica, Pérez de Nanclares Leal, Guiomar, Ortiz Santamaría, María, Sánchez-Dehesa Sáez, Rosa, García Cuartero, Beatriz, González Vergaz, Amparo
Published in Journal of Pediatric Endocrinology and Metabolism (25.03.2024)
Published in Journal of Pediatric Endocrinology and Metabolism (25.03.2024)
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Journal Article
Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: Comparison of IgG and IgA
Martín-Pagola, Ainhoa, Ortiz-Paranza, Lourdes, Bilbao, Jose Ramon, Pérez de Nanclares, Guiomar, Estevez, Elena Perez, Castaño, Luis, Vitoria, Juan Carlos
Published in Autoimmunity (Chur, Switzerland) (01.01.2007)
Published in Autoimmunity (Chur, Switzerland) (01.01.2007)
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Journal Article
Killer Cell Immunoglobulin-Like Receptor ( KIR) Genes in the Basque Population: Association Study of KIR Gene Contents With Type 1 Diabetes Mellitus
Santin, Izortze, de Nanclares, Guiomar Pérez, Calvo, Begoña, Gaafar, Ayman, Castaño, Luis, Bilbao, Jose Ramon
Published in Human Immunology (01.01.2006)
Published in Human Immunology (01.01.2006)
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Journal Article
Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma
RUIZ-LLORENTE, Sergio, MONTERO-CONDE, Cristina, PEREZ DE NANCLARES, Guiomar, ALVAREZ-ESCOLA, Cristina, DIAZ-PEREZ, José Angel, CARRACEDO, Angel, URIOSTE, Miguel, GONZALEZ-NEIRA, Anna, BENITEZ, Javier, SANTISTEBAN, Pilar, DOPAZO, Joaquin, FONDER, Bruce A, MILNE, Roger L, ROBLEDO, Mercedes, MOYA, Christian M, CEBRIAN, Arancha, LETON, Rocio, CASCON, Alberto, MERCADILLO, Fatima, LANDA, Inigo, BORREGO, Salud
Published in Cancer research (Chicago, Ill.) (01.10.2007)
Published in Cancer research (Chicago, Ill.) (01.10.2007)
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Journal Article
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism
Romanelli, Valeria, Nevado, Julián, Fraga, Mario, Trujillo, Alex Martín, Mori, Maria Ángeles, Fernández, Luis, de Nanclares, Guiomar Pérez, Martínez-Glez, Víctor, Pita, Guillermo, Meneses, Heloisa, Gracia, Ricardo, García-Miñaur, Sixto, de Miguel, Purificación García, Lecumberri, Beatriz, Rodríguez, José Ignacio, Neira, Anna González, Monk, David, Lapunzina, Pablo
Published in Journal of medical genetics (01.03.2011)
Published in Journal of medical genetics (01.03.2011)
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Journal Article
Brachydactyly type C due to a nonsense mutation in the GDF5 gene
Travieso-Suárez, Lourdes, Pereda, Arrate, Pozo-Román, Jesús, Pérez de Nanclares, Guiomar, Argente, Jesús
Published in Anales de Pediatría (01.02.2018)
Published in Anales de Pediatría (01.02.2018)
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Journal Article
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network
Elli, Francesca Marta, Linglart, Agnès, Garin, Intza, de Sanctis, Luisa, Bordogna, Paolo, Grybek, Virginie, Pereda, Arrate, Giachero, Federica, Verrua, Elisa, Hanna, Patrick, Mantovani, Giovanna, Perez de Nanclares, Guiomar
Published in The journal of clinical endocrinology and metabolism (01.10.2016)
Published in The journal of clinical endocrinology and metabolism (01.10.2016)
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Journal Article
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients
Garin, Intza, Rica, Itxaso, Estalella, Itziar, Oyarzabal, Mirentxu, Rodríguez-Rigual, Mercedes, Pedro, Jose Ignacio San, Pérez-Nanclares, Gustavo, Fernández-Rebollo, Eduardo, Busturia, Maria Angeles, Castaño, Luis, De Nanclares, Guiomar Pérez
Published in Clinical endocrinology (Oxford) (01.06.2008)
Published in Clinical endocrinology (Oxford) (01.06.2008)
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Journal Article
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome
Fernández-Rebollo, Eduardo, Pérez, Olga, Martinez-Bouzas, Cristina, Cotarelo-Pérez, Maria Carmen, Garin, Intza, Ruibal, Jose Luis, Pérez-Nanclares, Gustavo, Castaño, Luis, Pérez de Nanclares, Guiomar
Published in European journal of endocrinology (01.04.2009)
Published in European journal of endocrinology (01.04.2009)
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Journal Article
GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes
SHAW-SMITH, Charles, DE FRANCO, Elisa, MIEDZYBRODZKA, Zosia, DEJA, Grazyna, WLODARSKA, Iwona, MLYNARSKI, Wojciech, FERRER, Jorge, HATTERSLEY, Andrew T, ELLARD, Sian, ALLEN, Hana Lango, BATLLE, Marta, FLANAGAN, Sarah E, BOROWIEC, Maciej, TAPLIN, Craig E, VAN ALFEN-VAN DER VELDEN, Janiëlle, CRUZ-ROJO, Jaime, PEREZ DE NANCLARES, Guiomar
Published in Diabetes (New York, N.Y.) (01.08.2014)
Published in Diabetes (New York, N.Y.) (01.08.2014)
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Journal Article
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity
Hanna, Patrick, Grybek, Virginie, Perez de Nanclares, Guiomar, Tran, Léa C, de Sanctis, Luisa, Elli, Francesca, Errea, Javier, Francou, Bruno, Kamenicky, Peter, Linglart, Léa, Pereda, Arrate, Rothenbuhler, Anya, Tessaris, Daniele, Thiele, Susanne, Usardi, Alessia, Shoemaker, Ashley H, Kottler, Marie‐Laure, Jüppner, Harald, Mantovani, Giovanna, Linglart, Agnès
Published in Journal of bone and mineral research (01.08.2018)
Published in Journal of bone and mineral research (01.08.2018)
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Journal Article
New pathogenic variant in DLX5 : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
Sifre-Ruiz, Anna, Sagasta, Amaia, Santos, Erika, Perez de Nanclares, Guiomar, Heath, Karen E
Published in Frontiers in genetics (13.04.2023)
Published in Frontiers in genetics (13.04.2023)
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Journal Article