EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms
Cassiman, David, Kauppinen, Raili, Monroy, Susana, Lee, Ming‐Jen, Bonkovsky, Herbert L., Thapar, Manish, Guillén‐Navarro, Encarna, Minder, Anna‐Elisabeth, Hale, Cecilia, Sweetser, Marianne T., Ivanova, Aneta
Published in Journal of inherited metabolic disease (01.11.2022)
Published in Journal of inherited metabolic disease (01.11.2022)
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Identification of copy‐number variants in patients with overgrowth disorders
Parra, Alejandro, Tenorio‐Castano, Jair, Nevado, Julián, Cazalla, Mario, Miranda‐Alcaraz, Lucía, Gallego‐Zazo, Natalia, Silván, Cristina, Arias, Pedro, Pozo‐Román, Jesús, Ballesta‐Martínez, María Juliana, Guillén‐Navarro, Encarna, Arroyo, Ignacio, Lotersztein, Vanesa, Cosentino, Viviana, González‐Meneses, Antonio, Galán, Enrique, Rosell, Jordi, Ramos, Feliciano, Lapunzina, Pablo
Published in Clinical genetics (01.08.2024)
Published in Clinical genetics (01.08.2024)
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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum
Puig-Hervás, Maria Trinidad, Temtamy, Samia, Aglan, Mona, Valencia, Maria, Martínez-Glez, Víctor, Ballesta-Martínez, María Juliana, López-González, Vanesa, Ashour, Adel M., Amr, Khalda, Pulido, Veronica, Guillén-Navarro, Encarna, Lapunzina, Pablo, Caparrós-Martín, José A., Ruiz-Perez, Victor L.
Published in Human mutation (01.10.2012)
Published in Human mutation (01.10.2012)
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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco-Pérez, Laura, Costa-Roger, Mar, Leno-Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina-Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M, Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna, Costa-Comellas, Laura, Munell, Francina, Boronat, Susana, Rojas-García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano, Eduardo F
Published in International journal of molecular sciences (27.07.2022)
Published in International journal of molecular sciences (27.07.2022)
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HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases
Martínez-Romero, María Carmen, Hernández-Contreras, María Encarnación, Bafalliu-Vidal, Juan Antonio, Barreda-Sánchez, María, Martínez-Menchón, Teresa, Cabello-Chaves, Virginia, Guillén-Navarro, Encarna
Published in Genes (01.06.2024)
Published in Genes (01.06.2024)
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Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study
López‐Rodríguez, Rosario, Ruiz‐Hornillos, Javier, Cortón, Marta, Almoguera, Berta, Minguez, Pablo, Pérez‐Tomás, María Elena, Barreda‐Sánchez, María, Mancebo, Esther, Ondo, Lorena, Martínez‐Ramas, Andrea, Fernández‐Caballero, Lidia, Taracido‐Fernández, Juan Carlos, Herrero‐González, Antonio, Mahillo, Ignacio, Paz‐Artal, Estela, Guillén‐Navarro, Encarna, Ayuso, Carmen
Published in Andrology (Oxford) (01.01.2023)
Published in Andrology (Oxford) (01.01.2023)
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A new seipin-associated neurodegenerative syndrome
Guillén-Navarro, Encarna, Sánchez-Iglesias, Sofía, Domingo-Jiménez, Rosario, Victoria, Berta, Ruiz-Riquelme, Alejandro, Rábano, Alberto, Loidi, Lourdes, Beiras, Andrés, González-Méndez, Blanca, Ramos, Adriana, López-González, Vanesa, Ballesta-Martínez, María Juliana, Garrido-Pumar, Miguel, Aguiar, Pablo, Ruibal, Alvaro, Requena, Jesús R, Araújo-Vilar, David
Published in Journal of medical genetics (01.06.2013)
Published in Journal of medical genetics (01.06.2013)
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Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
Plaisancié, Julie, Bailleul-Forestier, Isabelle, Gaston, Véronique, Vaysse, Fréderic, Lacombe, Didier, Holder-Espinasse, Muriel, Abramowicz, Marc, Coubes, Christine, Plessis, Ghislaine, Faivre, Laurence, Demeer, Bénédicte, Vincent-Delorme, Catherine, Dollfus, Hélène, Sigaudy, Sabine, Guillén-Navarro, Encarna, Verloes, Alain, Jonveaux, Philippe, Martin-Coignard, Dominique, Colin, Estelle, Bieth, Eric, Calvas, Patrick, Chassaing, Nicolas
Published in American journal of medical genetics. Part A (01.04.2013)
Published in American journal of medical genetics. Part A (01.04.2013)
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Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
Parra, Alejandro, Rabin, Rachel, Pappas, John, Pascual, Patricia, Cazalla, Mario, Arias, Pedro, Gallego-Zazo, Natalia, Santana, Alfredo, Arroyo, Ignacio, Artigas, Mercè, Pachajoa, Harry, Alanay, Yasemin, Akgun-Dogan, Ozlem, Ruaud, Lyse, Couque, Nathalie, Levy, Jonathan, Porras-Hurtado, Gloria Liliana, Santos-Simarro, Fernando, Ballesta-Martinez, Maria Juliana, Guillén-Navarro, Encarna, Muñoz-Hernández, Hugo, Nevado, Julián, Spanish OverGrowth Registry Initiative, Tenorio-Castano, Jair, Lapunzina, Pablo
Published in Genes (29.05.2023)
Published in Genes (29.05.2023)
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A New Overgrowth Syndrome is due to Mutations in RNF125
Tenorio, Jair, Mansilla, Alicia, Valencia, María, Martínez-Glez, Víctor, Romanelli, Valeria, Arias, Pedro, Castrejón, Nerea, Poletta, Fernando, Guillén-Navarro, Encarna, Gordo, Gema, Mansilla, Elena, García-Santiago, Fé, González-Casado, Isabel, Vallespín, Elena, Palomares, María, Mori, María A., Santos-Simarro, Fernando, García-Miñaur, Sixto, Fernández, Luis, Mena, Rocío, Benito-Sanz, Sara, del Pozo, Ángela, Silla, Juan Carlos, Ibañez, Kristina, López-Granados, Eduardo, Martín-Trujillo, Alex, Montaner, David, Heath, Karen E., Campos-Barros, Ángel, Dopazo, Joaquín, Nevado, Julián, Monk, David, Ruiz-Pérez, Víctor L., Lapunzina, Pablo
Published in Human mutation (01.12.2014)
Published in Human mutation (01.12.2014)
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Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies
Vera-Carbonell, Ascensión, López-González, Vanesa, Bafalliu, Juan Antonio, Ballesta-Martínez, María J, Fernández, Asunción, Guillén-Navarro, Encarna, López-Expósito, Isabel
Published in American journal of medical genetics. Part A (01.04.2015)
Published in American journal of medical genetics. Part A (01.04.2015)
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Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta
Guillén-Navarro, Encarna, Ballesta-Martínez, María Juliana, Valencia, María, Bueno, Ana María, Martinez-Glez, Victor, López-González, Vanesa, Burnyte, Birute, Utkus, Algirdas, Lapunzina, Pablo, Ruiz-Perez, Victor L.
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
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Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency
García-Martínez, Victoria-Eugenia, Galiana-Vallés, Ximo, Zomeño-Alcalá, Otilia, Rodríguez-López, Raquel, Llena, Carmen, Martínez-Romero, María Del Carmen, Guillén-Navarro, Encarna
Published in Children (Basel) (10.02.2023)
Published in Children (Basel) (10.02.2023)
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Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations
Barraza-García, Jimena, Iván Rivera-Pedroza, Carlos, Salamanca, Luis, Belinchón, Alberta, López-González, Vanesa, Sentchordi-Montané, Lucía, del Pozo, Ángela, Santos-Simarro, Fernando, Campos-Barros, Ángel, Lapunzina, Pablo, Guillén-Navarro, Encarna, González-Casado, Isabel, García-Miñaur, Sixto, Heath, Karen E.
Published in American journal of medical genetics. Part A (01.01.2016)
Published in American journal of medical genetics. Part A (01.01.2016)
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CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms
Romanelli, Valeria, Belinchón, Alberta, Benito-Sanz, Sara, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, Heath, Karen E., Campos-Barros, Angel, García-Miñaur, Sixto, Fernandez, Luís, Meneses, Heloisa, López-Siguero, Juan Pedro, Guillén-Navarro, Encarna, Gómez-Puertas, Paulino, Wesselink, Jan-Jaap, Mercado, Graciela, Esteban-Marfil, Victoria, Palomo, Rebeca, Mena, Rocío, Sánchez, Aurora, del Campo, Miguel, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
Pintos-Morell, Guillem, Blasco-Alonso, Javier, Couce, María L., Gutiérrez-Solana, Luís G., Guillén-Navarro, Encarna, O'Callaghan, Mar, del Toro, Mireia
Published in Molecular genetics and metabolism reports (01.06.2018)
Published in Molecular genetics and metabolism reports (01.06.2018)
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Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome
Vera-Carbonell, Ascensión, López-González, Vanesa, Bafalliu, Juan Antonio, Piñero-Fernández, Juan, Susmozas, Joaquín, Sorli, Moisés, López-Pérez, Rocío, Fernández, Asunción, Guillén-Navarro, Encarna, López-Expósito, Isabel
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial
Kuter, David J., Bonkovsky, Herbert L., Monroy, Susana, Ross, Gayle, Guillén-Navarro, Encarna, Cappellini, Maria Domenica, Minder, Anna-Elisabeth, Hother-Nielsen, Ole, Ventura, Paolo, Jia, Gang, Sweetser, Marianne T., Thapar, Manish
Published in Journal of hepatology (01.11.2023)
Published in Journal of hepatology (01.11.2023)
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Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
Colomer, Jaume, Gooding, Rebecca, Angelicheva, Dora, King, Rosalind H.M., Guillén-Navarro, Encarna, Parman, Yesim, Nascimento, Andres, Conill, Joan, Kalaydjieva, Luba
Published in Neuromuscular disorders : NMD (01.07.2006)
Published in Neuromuscular disorders : NMD (01.07.2006)
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Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement
Vera-Carbonell, Ascensión, López-Expósito, Isabel, Bafalliu, Juan Antonio, Ballesta-Martínez, María, Glóver, Guillermo, Llópis, Carina, Moya-Quiles, Rosa, Suela, Javier, Fernández, Asunción, Guillén-Navarro, Encarna
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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