What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis by Arrate Pereda, Intza Garin, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares

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Genetic counselling in the era of next generation sequencing by Diego Espada-Musitu, África Manero-Azua, Yerai Vado, Guiomar Perez de Nanclares

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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed? by Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares

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Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2 by Yerai Vado, Arrate Pereda, Africa Manero-Azua, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares

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Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3) by Africa Manero-Azua, Yerai Vado, Judith Gonzàlez Morlà, Eduard Mogas, Arrate Pereda, Guiomar Perez de Nanclares

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Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene. by Intza Garin, Guiomar Perez de Nanclares, Elena Gastaldo, Lorna W Harries, Oscar Rubio-Cabezas, Luis Castaño

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

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Glucose and galactose malabsorption: A new case in Spain by Blanca Lodoso-Torrecilla, Guiomar Perez de Nanclares, Intza Garin, Ariane Calvo-Saez, Idoya Martinez-Fernandez de Pinedo

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New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly by Anna Sifre-Ruiz, Amaia Sagasta, Erika Santos, Guiomar Perez de Nanclares, Karen E. Heath, Karen E. Heath, Karen E. Heath

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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report by Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares

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Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells by Yerai Vado, Gustavo Puras, Melania Rosique, Cesar Martin, Jose Luis Pedraz, Shifa Jebari-Benslaiman, Marian M. de Pancorbo, Jon Zarate, Guiomar Perez de Nanclares

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Nutrition recommendations for patients with pseudohypoparathyroidism by Lorena Miñones-Suarez, Guiomar Pérez de Nanclares, Silvia Marín-del Barrio, María José Alcázar Villar, Diego de Sotto-Esteban, Eduard Mogas, Lourdes Rey Cordo, Isolina Riaño-Galán, Javier Lumbreras Fernández, Rosaura Leis

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Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction by Ana Monteagudo-Sánchez, Marta Sánchez-Delgado, Jose Ramon Hernandez Mora, Nuria Tubío Santamaría, Eduard Gratacós, Manel Esteller, Miguel López de Heredia, Virgina Nunes, Cecile Choux, Patricia Fauque, Guiomar Perez de Nanclares, Lauren Anton, Michal A. Elovitz, Isabel Iglesias-Platas, David Monk

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A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions by Hasier Eraña, Cristina Sampedro-Torres-Quevedo, Jorge M. Charco, Carlos M. Díaz-Domínguez, Francesca Peccati, Maitena San-Juan-Ansoleaga, Enric Vidal, Nuno Gonçalves-Anjo, Miguel A. Pérez-Castro, Ezequiel González-Miranda, Patricia Piñeiro, Leire Fernández-Veiga, Josu Galarza-Ahumada, Eva Fernández-Muñoz, Guiomar Perez de Nanclares, Glenn Telling, Mariví Geijo, Gonzalo Jiménez-Osés, Joaquín Castilla

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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes by Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil, Mariana Bastos-Oreiro, Guiomar Perez de Nanclares, Virginia Leiro-Fernández, Maria-Luz Uria, Cristina Diaz-Heredia, Claudia Valenzuela, Sara Martín, Belén López-Muñiz, Pablo Lapunzina, Julian Sevilla, María Molina-Molina, Rosario Perona, Leandro Sastre

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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis by Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

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