The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome by Schönewolf-Greulich, B., Tejada, M.-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A.-M., Tümer, Z.

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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk... by Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, Oliveira, Carla

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Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the basque country with respect to the spanish population : implicati... by BERISTAIN, E, MARINEZ-BOUZAS, C, GOROSTIAGA, J, DE PABLO, J. L, MENDIZABAL, J. L, TEJADA, M. I, GUERRA, I, VIGUERA, N, MORENO, J, IBANEZ, E, DIEZ, J, RODRIGUEZ, F, MALLABIABARRENA, G, LUJAN, S

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The Basques according to polymorphic Alu insertions by DE PANCORBO, M. M, LOPEZ-MARTINEZ, M, MARTINEZ-BOUZAS, C, CASTRO, A, FERNANDEZ-FERNANDEZ, I, ANTUNEZ DE MAYOLO, G, DE MAYOLO, A. Antunez, DE MAYOLO, P. Antunez, ROWOLD, D. J, HERRERA, R. J

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Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer by Kastrinos, Fay, Ojha, Rohit P, Leenen, Celine, Alvero, Carmelita, Mercado, Rowena C, Balmaña, Judith, Valenzuela, Irene, Balaguer, Francesc, Green, Roger, Lindor, Noralane M, Thibodeau, Stephen N, Newcomb, Polly, Win, Aung Ko, Jenkins, Mark, Buchanan, Daniel D, Bertario, Lucio, Sala, Paola, Hampel, Heather, Syngal, Sapna, Steyerberg, Ewout W

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Mitochondrial DNA haplogroup diversity in Basques: A reassessment based on HVI and HVII polymorphisms by Alfonso-Sánchez, M. A., Cardoso, S., Martínez-Bouzas, C., Peña, J. A., Herrera, R. J., Castro, A., Fernández-Fernández, I., De Pancorbo, M. M.

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Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study by Beristain, E, Martínez-Bouzas, C, Mallabiabarrena, G, Tejada, MI

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Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation by Tejada, M-I, Peñagarikano, O, Rodriguez-Revenga, L, Martinez-Bouzas, C, García, B, Bádenas, C, Guitart, M, Minguez, M, García-Alegría, E, Sanz-Parra, A, Beristain, E, Milá, M

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The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins by Infante, Mar, Durán, Mercedes, Acedo, Alberto, Sánchez-Tapia, Eva María, Díez-Gómez, Beatriz, Barroso, Alicia, García-González, María, Feliubadaló, Lídia, Lasa, Adriana, de la Hoya, Miguel, Esteban-Cardeñosa, Eva, Díez, Orland, Martínez-Bouzas, Cristina, Godino, Javier, Teulé, Alexandre, Osorio, Ana, Lastra, Enrique, González-Sarmiento, Rogelio, Miner, Cristina, Velasco, Eladio A

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The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome by Schönewolf‐Greulich, B., Tejada, M.‐I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum‐Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez‐Bouzas, C., Piton, A., Rouleau, G., Clayton‐Smith, J., Kleefstra, T., Bisgaard, A.‐M., Tümer, Z.

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Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration by Plaja, Alberto, Lloveras, Elisabet, Martinez-Bouzas, Cristina, Barreña, Beatriz, Campo, Miguel Del, Fernández, Asunción, Herrero, Marta, Barranco, Laura, Palau, Nuria, López-Aríztegui, M. Asunción, Català, Vicenç, Tejada, Maria-Isabel

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Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models by García-Alegría, Eva, Ibáñez, Berta, Mínguez, Mónica, Poch, Marisa, Valiente, Alberto, Sanz-Parra, Arantza, Martinez-Bouzas, Cristina, Beristain, Elena, Tejada, Maria-Isabel

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Cytochrome b and HVI sequences of mitochondrial DNA to identify domestic animal hair in forensic casework by de Pancorbo, M.M, Castro, A, Fernández-Fernández, I, González-Fernández, M.C, Martı́nez-Bouzas, C, Cuevas, N

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Genetic structure of autochthonous Basques through analysis of the HVI and HVII regions of mitochondrial DNA by Martı́nez-Bouzas, C, Castro, A, Fernández-Fernández, I, Rodrı́guez-Filgueira, J.L, de Pancorbo, M.M

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Gene symbol: MECP2. Disease: Rett syndrome (atypical) by Penagarikano, O, Martinez-Bouzas, Cristina, Mínguez, Mónica, Sanz-Parra, Arantza, García-Alegría, Eva, Beristain, Elena, Tejada, M Isabel

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The first genotype-phenotype study on European carriers of CDH1 germline mutations by Garcia-Pelaez, J, Monteiro, R, Sousa, L, Pinheiro, H, Castedo, S, Garrido, L, Teixeira, M, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Ranzani, G, Genuardi, M, Silveira, C, Silva, I, Krajc, M, Blatnik, A, Novakovic, S, Patino-Garcia, A, Soto, J, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Egas, C, Martinez-Bouzas, C, Dahan, K, Feret, D, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

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Population genetic data of eight tetrameric short tandem repeats (STRs) in Casablanca resident population to use in forensic casework by Chbel, Faiza, Nadifi, Sellama, Martinez-Bouzas, Cristina, Louahlia, Said, Azeddoug, Houssine, Martinez De Pancorbo, Marian

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Short Report: Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation by M-I Tejada, Peñagarikano, O, Rodriguez-Revenga, L, Martinez-Bouzas, C, García, B, Bádenas, C, Guitart, M, Minguez, M, García-Alegría, E, Sanz-Parra, A, Beristain, E, Milá, M

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A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3 by Tejada, María-Isabel, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Larrucea, Susana, Acquadro, Francesco, Cigudosa, Juan-C, Belet, Stefanie, Froyen, Guy, López-Aríztegui, Maria-Asun

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A Child With Mild X-Linked Intellectual Disability and a Microduplication at Xp22.12 Including RPS6KA^sub 3 by Tejada, María-Isabel, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Larrucea, Susana, Acquadro, Francesco, Cigudosa, Juan-C, Belet, Stefanie, Froyen, Guy, López-Aríztegui, Maria-Asun

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