Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain

بواسطة Vicente, Esther, Ruiz de Sabando, Ainara, García, Fermín, Gastón, Itziar, Ardanaz, Eva, Ramos-Arroyo, María A.
الحاوية / القاعدة Orphanet J Rare Dis (2021)

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

بواسطة Quarrell, Oliver W, Handley, Olivia, O'Donovan, Kirsty, Dumoulin, Christine, Ramos-Arroyo, Maria, Biunno, Ida, Bauer, Peter, Kline, Margaret, Landwehrmeyer, G Bernhard
منشور في 2012

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

بواسطة Moreno-Igoa, María, Hernández-Charro, Blanca, Bengoa-Alonso, Amaya, Pérez-Juana-del-Casal, Aranzazu, Romero-Ibarra, Carlos, Nieva-Echebarria, Beatriz, Ramos-Arroyo, María Antonia
الحاوية / القاعدة BMC Med Genet (2015)

Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain)

بواسطة Ruiz de Sabando, Ainara, Urrutia Lafuente, Edurne, García-Amigot, Fermín, Alonso Sánchez, Angel, Morales Garofalo, Lourdes, Moreno, Sira, Ardanaz, Eva, Ramos-Arroyo, Maria A.
الحاوية / القاعدة BMC Cancer (2019)

Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain)

بواسطة de Sabando, Ainara Ruiz, Lafuente, Edurne Urrutia, García-Amigot, Fermín, Sánchez, Angel Alonso, Garofalo, Lourdes Morales, Moreno, Sira, Ardanaz, Eva, Ramos-Arroyo, Maria A.
الحاوية / القاعدة BMC Cancer (2019)

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population

بواسطة Garcia-Solaesa, Virginia, Serrano-Lorenzo, Pablo, Ramos-Arroyo, Maria Antonia, Blázquez, Alberto, Pagola-Lorz, Inmaculada, Artigas-López, Mercè, Arenas, Joaquín, Martín, Miguel A., Jericó-Pascual, Ivonne
الحاوية / القاعدة Genes (Basel) (2019)

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

بواسطة García-García, Gema, Aparisi, María J., Rodrigo, Regina, Sequedo, María D., Espinós, Carmen, Rosell, Jordi, Olea, José L., Mendívil, M. Paz, Ramos-Arroyo, María A, Ayuso, Carmen, Jaijo, Teresa, Aller, Elena, Millán, José M.
منشور في 2012

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

بواسطة Pérez‐Grijalba, Virginia, García‐Oguiza, Alberto, López, María, Armstrong, Judith, García‐Miñaur, Sixto, Mesa‐Latorre, Jose María, O'Callaghan, Mar, Pineda Marfa, Mercé, Ramos‐Arroyo, Maria Antonia, Santos‐Simarro, Fernando, Seidel, Verónica, Domínguez‐Garrido, Elena
الحاوية / القاعدة Mol Genet Genomic Med (2019)

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

بواسطة Tejada, María-Isabel, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam, de Diego-Otero, Yolanda, Fernández-Carvajal, Isabel, Ramos, Feliciano J., Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat
منشور في 2014

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

بواسطة Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos‐Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.
الحاوية / القاعدة Hum Mutat (2016)

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

بواسطة Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A
الحاوية / القاعدة Eur J Hum Genet (2017)

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

بواسطة Lemmers, Richard J.L.F., Goeman, Jelle J., van der Vliet, Patrick J., van Nieuwenhuizen, Merlijn P., Balog, Judit, Vos-Versteeg, Marianne, Camano, Pilar, Ramos Arroyo, Maria Antonia, Jerico, Ivonne, Rogers, Mark T., Miller, Daniel G., Upadhyaya, Meena, Verschuuren, Jan J.G.M., Lopez de Munain Arregui, Adolfo, van Engelen, Baziel G.M., Padberg, George W., Sacconi, Sabrina, Tawil, Rabi, Tapscott, Stephen J., Bakker, Bert, van der Maarel, Silvère M.
الحاوية / القاعدة Hum Mol Genet (2015)