Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis von Armengol, Lluís, Nevado, Julián, Serra-Juhé, Clara, Plaja, Alberto, Mediano, Carmen, García-Santiago, Fe Amalia, García-Aragonés, Manel, Villa, Olaya, Mansilla, Elena, Preciado, Cristina, Fernández, Luis, Mori, María Ángeles, García-Pérez, Lidia, Lapunzina, Pablo Daniel, Pérez-Jurado, Luis Alberto

Volltext

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization von García-Santiago, Fe Amalia, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Mansilla, Elena, Meneses, Antonio González, Rosell, Jordi, Granero, Ángeles Pérez, Vallespín, Elena, Fernández, Luis, Sierra, Blanca, Oliver-Bonet, María, Palomares, María, de Torres, María Luisa, Mori, María Ángeles, Nevado, Julián, Heath, Karen E., Delicado, Alicia, Lapunzina, Pablo

Volltext

Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome von García‐Santiago, Fe Amalia, Martínez‐Payo, Cristina, Mansilla, Elena, Santos‐Simarro, Fernando, Ruiz de Azua Ballesteros, Miguel, Mori, María Ángeles, Antolín Alvarado, Eugenia, Nieto, Yolanda, Vallcorba, Isabel, Tenorio, Jair, Nevado, Julián, Lapunzina, Pablo

Volltext

Is Nuchal Translucency of 3.0–3.4 mm an Indication for cfDNA Testing or Microarray? – A Multicenter Retrospective Clinical Cohort Study von Rybak-Krzyszkowska, Magda, Madetko-Talowska, Anna, Szewczyk, Katarzyna, Bik-Multanowski, Mirosław, Sakowicz, Agata, Stejskal, David, Trková, Marie, Smetanová, Dagmar, Serafim, Sílvia, Correia, Hildeberto, Nevado, Julian, Angeles Mori, Maria, Mansilla, Elena, Rutkowska, Lena, Kucińska, Agata, Gach, Agnieszka, Huras, Hubert, Kołak, Magdalena, Srebniak, Malgorzata Ilona

Volltext

Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele von Gómez-González, Clara, Rosas-Alonso, Rocío, Rodríguez-Antolín, Carlos, García-Guede, Alvaro, Ibáñez de Caceres, Inmaculada, Sanguino, Javier, Pascual, Samuel I., Esteban, Isabel, Pozo, Angela del, Mori, María Ángeles, Torres, Rosa J., Prior, Carmen

Volltext

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system von Espeche, Lucía Daniela, Solari, Andrea Paula, Mori, María Ángeles, Arenas, Rubén Martín, Palomares, María, Pérez, Myriam, Martínez, Cinthia, Lotersztein, Vanesa, Segovia, Mabel, Armando, Romina, Dain, Liliana Beatriz, Nevado, Julián, Lapunzina, Pablo, Rozental, Sandra

Volltext

De novo unbalanced translocations have a complex history/aetiology von Bonaglia, Maria Clara, Kurtas, Nehir Edibe, Errichiello, Edoardo, Bertuzzo, Sara, Beri, Silvana, Mehrjouy, Mana M., Provenzano, Aldesia, Vergani, Debora, Pecile, Vanna, Novara, Francesca, Reho, Paolo, Di Giacomo, Marilena Carmela, Discepoli, Giancarlo, Giorda, Roberto, Aldred, Micheala A., Santos-Rebouças, Cíntia Barros, Goncalves, Andressa Pereira, Abuelo, Diane N., Giglio, Sabrina, Ricca, Ivana, Franchi, Fabrizia, Patsalis, Philippos, Sismani, Carolina, Morí, María Angeles, Nevado, Julián, Tommerup, Niels, Zuffardi, Orsetta

Volltext

Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital von Sandoval-Talamantes, Ana Karen, Mori, María Ángeles, Santos-Simarro, Fernando, García-Miñaur, Sixto, Mansilla, Elena, Tenorio, Jair Antonio, Peña, Carolina, Adan, Carmen, Fernández-Elvira, María, Rueda, Inmaculada, Lapunzina, Pablo, Nevado, Julián

Volltext

New microdeletion and microduplication syndromes: A comprehensive review von Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo

Volltext

Mortality in Patients with 22q11.2 Rearrangements von Cilio Arroyuelo, Melisa, Tenorio-Castano, Jair, García-Moya, Luis Fernández, Parra, Alejandro, Cazalla, Mario, Gallego, Natalia, Miranda, Lucía, Mori, María Ángeles, García-Gueretta, Luis, Labrandero, Carlos, Mansilla, Elena, Rikeros, Emi, García-Santiago, Fe, Vallcorba, Isabel, Arias, Pedro, Silván, Cristina, Deiros Bronte, Lucia, Nevado, Julián, Lapunzina, Pablo

Volltext

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals von Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, Del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C, Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo

Volltext

Direct tandem duplication in chromosome 19q characterized by array CGH von Palomares Bralo, Maria, Delicado, Alicia, Lapunzina, Pablo, Velázquez Fragua, Ramón, Villa, Olaya, Ángeles Mori, Maria, Luisa de Torres, Maria, Fernández, Luis, Pérez Jurado, Luis A, López Pajares, Isidora

Volltext

46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy von Grinspon, Romina P., Nevado, Julián, Mori Alvarez, María de los Ángeles, del Rey, Graciela, Castera, Roberto, Venara, Marcela, Chiesa, Ana, Podestá, Miguel, Lapunzina, Pablo, Rey, Rodolfo A.

Volltext

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome von Nevado, Julián, Bel-Fenellós, Cristina, Sandoval-Talamantes, Ana Karen, Hernández, Adolfo, Biencinto-López, Chantal, Martínez-Fernández, María Luisa, Barrúz, Pilar, Santos-Simarro, Fernando, Mori-Álvarez, María Ángeles, Mansilla, Elena, García-Santiago, Fé Amalia, Valcorba, Isabel, Sáenz-Rico, Belén, Martínez-Frías, María Luisa, Lapunzina, Pablo

Volltext

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism von Romanelli, Valeria, Nevado, Julián, Fraga, Mario, Trujillo, Alex Martín, Mori, Maria Ángeles, Fernández, Luis, de Nanclares, Guiomar Pérez, Martínez-Glez, Víctor, Pita, Guillermo, Meneses, Heloisa, Gracia, Ricardo, García-Miñaur, Sixto, de Miguel, Purificación García, Lecumberri, Beatriz, Rodríguez, José Ignacio, Neira, Anna González, Monk, David, Lapunzina, Pablo

Volltext

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier von Delicado, Alicia, Fernández, Luis, de Torres, María Luisa, Nevado, Julián, García-Santiago, Fe Amalia, Rodríguez, Roberto, Mansilla, Elena, Palomares, María, Santos-Simarro, Fernando, Vallespín, Elena, Mori, María Ángeles, Lapunzina, Pablo

Volltext

FOXP1-related intellectual disability syndrome: a recognisable entity von Meerschaut, Ilse, Rochefort, Daniel, Revençu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel de l'Argentière, Thomy, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, Callewaert, Bert

Volltext

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome von Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, Del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo

Volltext

Constitutional Mosaic Genome-Wide Uniparental Disomy due to Diploidization: an Unusual Cancer-Predisposing Mechanism von Romanelli, Valeria, Nevado, Julian, Fraga, Mario, Martín Trujillo, Alex, Mori, Maria Ángeles, Fernández, Luis, Pérez de Nanclares, Guiomar, Martínez-Glez, Víctor, Pita, Guillermo, Meneses, Heloisa, Gracia, Ricardo, García-Miñaur, Sixto, García de Miguel, Purificación, Lecumberri, Beatriz, Rodríguez, José Ignacio, González Neira, Anna, Monk, David, Lapunzina, Pablo

Volltext

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis von Armengol i Dulcet, Lluís, Nevado, Julián, Serra Juhé, Clara, 1984, Mediano, Carmen, García Santiago, Fe Amalia, García Aragonés, Manel, Villa Marcos, Olaya, Mansilla, Elena, Preciado, Cristina, Fernández, Luis, Mori, María Ángeles, García Pérez, Lidia, Lapunzina, Pablo Daniel, Pérez Jurado, Luis Alberto

Volltext