Molecular Testing for Fragile X : Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain von Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat, Tejada, María-Isabel, Ramos, Feliciano J., Fernández-Carvajal, Isabel, de Diego-Otero, Yolanda, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam

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

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Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion von Bengoa-Alonso, Amaya, Artigas-López, Mercè, Moreno-Igoa, María, Cattalli, Claudio, Hernández-Charro, Blanca, Ramos-Arroyo, Maria Antonia

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Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes von Plaza-Izurieta, Leticia, Castellanos-Rubio, Ainara, Irastorza, Iñaki, Fernández-Jimenez, Nora, Gutierrez, Galder, Bilbao, Jose Ramon

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THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge von Bondar, Constanza, Plaza-Izurieta, Leticia, Fernandez-Jimenez, Nora, Irastorza, Iñaki, Withoff, Sebo, Wijmenga, Cisca, Chirdo, Fernando, Bilbao, Jose Ramon

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

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Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy von Funalot, Benoît, Topilko, Piotr, Arroyo, Maria Antonia Ramos, Sefiani, Abdelaziz, Hedley-Whyte, E. Tessa, Yoldi, Maria E., Richard, Laurence, Touraille, Estelle, Laurichesse, Mathieu, Khalifa, Emmanuel, Chauzeix, Jasmine, Ouedraogo, Adama, Cros, Didier, Magdelaine, Corinne, Sturtz, Franck G., Urtizberea, J. Andoni, Charnay, Patrick, Bragado, Federico Garcia, Vallat, Jean-Michel

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KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome von Moreno-Igoa, María, Hernández-Charro, Blanca, Bengoa-Alonso, Amaya, Pérez-Juana-del-Casal, Aranzazu, Romero-Ibarra, Carlos, Nieva-Echebarria, Beatriz, Ramos-Arroyo, María Antonia

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

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Intermediate CAG repeats in Huntington´s disease. A longitudinal analysis of the European Huntington´s Disease Network REGISTRY Cohort (S25.003) von Cubo, Esther, Ramos-Arroyo, Maria Antonia, Martinez-Horta, Saul, Martinez-Descalls, Asunción, Gil-Polo, Cecilia

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Clinical manifestations of homozigote allele carriers in Huntington’s disease (P4.038) von Delgado, Esther Cubo, Martinez-Horta, Saul, Ramos-Arroyo, Maria Antonia, Polo, Cecilia Gil, Sampedro, Frederic, Descalls, Asuncion Martinez, Calvo, Sara, LLano, Katia, Muñoz-Siscart, Ignacio

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Intermediate CAG repeats in Huntington´s disease. Analysis of the European Huntington´s Disease Cohort Network´s Registry. (P5.293) von Cubo Delgado, Esther, Ramos-Arroyo, Maria Antonia, Martinez-Horta, Saul, Martinez-Descalls, Asuncion

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Implementando un registro poblacional de enfermedades raras en España: la experiencia de Navarra () von Vicente, Esther, Guevara, Marcela, Lasanta, María J., Ramos-Arroyo, María A., Ardanaz, Eva

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A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33 von Bayés, M, Goldaracena, B, Martínez-Mir, A, Iragui-Madoz, M I, Solans, T, Chivelet, P, Bussaglia, E, Ramos-Arroyo, M A, Baiget, M, Vilageliu, L, Balcells, S, Gonzàlez-Duarte, R, Grinberg, D

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Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting thePMP22 gene von NADAL, MARGA, VALIENTE, ALBERTO, DOMÈNECH, ANNA, PRITCHARD, MELANIE, ESTIVILL, XAVIER, RAMOS-ARROYO, MARIA ANTONIA

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Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor von Cabral de Almeida Cardoso, Leila, Rodriguez-Laguna, Lara, Del Carmen Crespo, María, Vallespín, Elena, Palomares-Bralo, María, Martin-Arenas, Rubén, Rueda-Arenas, Inmaculada, Silvestre de Faria, Paulo Antonio, García-Miguel, Purificación, Lapunzina, Pablo, Regla Vargas, Fernando, Seuanez, Hector N, Martínez-Glez, Víctor

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Recomendaciones de buena práctica para el diagnóstico genético de la enfermedad de Huntington von Ramos Arroyo, María Antonia, Trujillo-Tiebas, María José, Milá, Montserrat

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ACT/AA polymorphism could duplicate the APOEepsilon4-associated Alzheimer's disease risk von Hernández-Charro, Blanca, Moreno, Sira, Valiente, Alberto, Manubens, José María, Villar, María Dolores, Ramos-Arroyo, María Antonia

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El polimorfismo ACT/AA podría duplicar el riesgo de enfermedad de Alzheimer asociado al alelo APOEε4 von Hernández-Charro, Blanca, Moreno, Sira, Valiente, Alberto, María Manubens, José, Dolores Villar, María, Ramos-Arroyo, María Antonia

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El polimorfismo ACT/AA podria duplicar el riesgo de enfermedad de Alzheimer asociado al alelo APOEε4 von Hernández-Charro, Blanca, Moreno, Sira, Valiente, Alberto, María Manubens, José, Dolores Villar, María, Antonia Ramos-Arroyo, María

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