Prenatal diagnosis of severe structural congenital malformations in Europe
Garne, E., Loane, M., Dolk, H., De Vigan, C., Scarano, G., Tucker, D., Stoll, C., Gener, B., Pierini, A., Nelen, V., Rösch, C., Gillerot, Y., Feijoo, M., Tincheva, R., Queisser‐Luft, A., Addor, M.‐C., Mosquera, C., Gatt, M., Barisic, I.
Published in Ultrasound in obstetrics & gynecology (01.01.2005)
Published in Ultrasound in obstetrics & gynecology (01.01.2005)
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Journal Article
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder
Cuscó, Ivon, Medrano, Andrés, Gener, Blanca, Vilardell, Mireia, Gallastegui, Fátima, Villa, Olaya, González, Eva, Rodríguez-Santiago, Benjamín, Vilella, Elisabet, Del Campo, Miguel, Pérez-Jurado, Luis A.
Published in Human molecular genetics (15.05.2009)
Published in Human molecular genetics (15.05.2009)
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The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil
Castro, L.P., Sahbatou, M., Kehdy, F.S.G., Farias, A.A., Yurchenko, A.A., de Souza, T.A., Rosa, R.C.A., Mendes-Junior, C.T., Borda, V., Munford, V., Zanardo, É.A., Chehimi, S.N., Kulikowski, L.D., Aquino, M.M., Leal, T.P., Tarazona-Santos, E., Chaibub, S.C., Gener, B., Calmels, N., Laugel, V., Sarasin, A., Menck, C.F.M.
Published in Mutation research (01.04.2020)
Published in Mutation research (01.04.2020)
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Journal Article
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
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.
Published in Clinical genetics (01.06.2016)
Published in Clinical genetics (01.06.2016)
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Journal Article
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches
Baquero-Montoya, C., Gil-Rodríguez, M.C., Braunholz, D., Teresa-Rodrigo, M.E., Obieglo, C., Gener, B., Schwarzmayr, T., Strom, T.M., Gómez-Puertas, P., Puisac, B., Gillessen-Kaesbach, G., Musio, A., Ramos, F.J., Kaiser, F.J., Pié, J.
Published in Clinical genetics (01.12.2014)
Published in Clinical genetics (01.12.2014)
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Journal Article
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
Bijlsma, E.K, Collins, A, Papa, F.T, Tejada, M.I, Wheeler, P, Peeters, E.A.J, Gijsbers, A.C.J, van de Kamp, J.M, Kriek, M, Losekoot, M, Broekma, A.J, Crolla, J.A, Pollazzon, M, Mucciolo, M, Katzaki, E, Disciglio, V, Ferreri, M.I, Marozza, A, Mencarelli, M.A, Castagnini, C, Dosa, L, Ariani, F, Mari, F, Canitano, R, Hayek, G, Botella, M.P, Gener, B, Mínguez, M, Renieri, A, Ruivenkamp, C.A.L
Published in European journal of medical genetics (01.06.2012)
Published in European journal of medical genetics (01.06.2012)
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Journal Article
Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999
Dolk, H., Loane, M., Garne, E., De Walle, H., Queisser-Luft, A., de Vigan, C., Addor, M.C., Gener, B., Haeusler, M., Jordan, H., Tucker, D., Stoll, C., Feijoo, M., Lillis, D., Bianchi, F.
Published in Revue d'épidémiologie et de santé publique (01.11.2005)
Published in Revue d'épidémiologie et de santé publique (01.11.2005)
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Journal Article
Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe
Garne, Ester, Loane, Maria, de Vigan, Catherine, Scarano, Gioacchino, de Walle, Hermien, Gillerot, Yves, Stoll, Claude, Addor, Marie-Claude, Stone, David, Gener, Blanca, Feijoo, Maria, Mosquera-Tenreiro, Carmen, Gatt, Miriam, Queisser-Luft, Annette, Baena, Neus, Dolk, Helen
Published in Prenatal diagnosis (01.11.2004)
Published in Prenatal diagnosis (01.11.2004)
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Journal Article
HP48 : Coexistence of unilateral and bilateral retinitis pigmentosa in the same family
Melgar Jiménez, B., Zabalo San Juan, J., Echeverría Guibert, T., Cascón Fuertes, G., Sánchez Aparicio, J.A., Gener, B., Fernández Bedoya, A.I., Yurrebaso Santamaría, I.
Published in Clinical neurophysiology (01.03.2022)
Published in Clinical neurophysiology (01.03.2022)
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Journal Article
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
de Pontual, Loïc, Gener, Blanca, Simonneau, Michel, Munnich, Arnold, Etchevers, Heather, Amiel, Jeanne, Lyonnet, Stanislas, Attié-Bitach, Tania, Trochet, Delphine, Gaultier, Claude, Laudier, Béatrice, Trang, Ha, Ray, Pierre, Vekemans, Michel
Published in Nature genetics (01.04.2003)
Published in Nature genetics (01.04.2003)
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Journal Article
The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome
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.
Published in Clinical genetics (01.06.2016)
Published in Clinical genetics (01.06.2016)
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Journal Article
Mutations in RNF135 , a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
Rahman, Nazneen, Douglas, Jenny, Cilliers, Deirdre, Coleman, Kim, Tatton-Brown, Katrina, Barker, Karen, Bernhard, Brigitte, Burn, John, Huson, Susan, Josifova, Dragana, Lacombe, Didier, Malik, Mohsin, Mansour, Sahar, Reid, Evan, Cormier-Daire, Valerie, Cole, Trevor, Childhood Overgrowth Collaboration, The
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
Pereda, Arrate, Garin, Intza, Perez de Nanclares, Guiomar
Published in BMC medical genetics (02.03.2018)
Published in BMC medical genetics (02.03.2018)
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Journal Article
Preventing neural tube defects in Europe: A missed opportunity
Busby, Araceli, Armstrong, Ben, Dolk, Helen, Armstrong, Nicola, Haeusler, Martin, Berghold, Andrea, Gillerot, Yves, Baguette, Andre, Gjergja, Romana, Barisic, Ingeborg, Christiansen, Marianne, Goujard, Janine, Steinbicker, Volker, Rösch, Christine, McDonnell, Robert, Scarano, Gioacchino, Calzolari, Elisa, Neville, Amanda, Cocchi, Guido, Bianca, Sebastiano, Gatt, Miriam, Walle, Hermien De, Braz, Paula, Latos-Bielenska, Anna, Gener, Blance, Portillo, Isabel, Addor, Marie-Claude, Abramsky, Lenore, Ritvanen, Annukka, Robert-Gnansia, Elisabeth, Daltveit, Anne Kjersti, Aneren, Goran, Olars, Birgitta, Edwards, Grace
Published in Reproductive toxicology (Elmsford, N.Y.) (01.09.2005)
Published in Reproductive toxicology (Elmsford, N.Y.) (01.09.2005)
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Journal Article
Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
RAINGER, Joe, BENGANI, Hemant, MERCER, Catherine, MCKENZIE, Kathryn, LENGFELD, Tobias, QUEROKL, Blanca Gener, BRANNEY, Peter, MCKAY, Stewart, MORRISON, Harris, MEDINA, Bethan, ROBERTSON, Morag, KOHLHASE, Jurgen, CAMPBELL, Leigh, GORDON, Colin, KIRK, Jean, WIECZOREK, Dagmar, FITZPATRICK, David R, ANDERSON, Eve, SOKHI, Kishan, LAM, Wayne, RIESS, Angelika, ANSARI, Morad, SMITHSON, Sarah, LEES, Melissa
Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
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Journal Article
Episodic spontaneous hypothermia: a periodic childhood syndrome
Ruiz, Cynthia, Gener, Blanca, Garaizar, Carmen, Prats, José M
Published in Pediatric neurology (01.04.2003)
Published in Pediatric neurology (01.04.2003)
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Journal Article
Can acute disseminated encephalomyelitis progress in a deferred way?
Gener, B, Garaizar-Axpe, C, Ruiz Espinosa, C, Prats-Viñas, J M
Published in Revista de neurologiá (16.06.2001)
Published in Revista de neurologiá (16.06.2001)
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Journal Article
Neuropediatric clinical practice in a tertiary hospital of Basque Country
Garaizar, C, Martínez-González, M J, Sobradillo, I, Ferrer, M, Gener, B, Prats, J M
Published in Revista de neurologiá (16.12.1999)
Published in Revista de neurologiá (16.12.1999)
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