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Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia
Published in Annals of neurology (01.11.2001)
Published in Annals of neurology (01.11.2001)
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Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques
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Published in European journal of human genetics : EJHG (01.04.2011)
Published in European journal of human genetics : EJHG (01.04.2011)
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Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria
Martínez‐Glez, Víctor, Romanelli, Valeria, Mori, María A., Gracia, Ricardo, Segovia, Mabel, González‐Meneses, Antonio, López‐Gutierrez, Juan C., Gean, Esther, Martorell, Loreto, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.12.2010)
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Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
Vergés, Laia, Molina, Oscar, Geán, Esther, Vidal, Francesca, Blanco, Joan
Published in Molecular cytogenetics (25.11.2014)
Published in Molecular cytogenetics (25.11.2014)
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Pseudoachondroplasia: Descriptions of a de novo and familial case
Casas-Alba, Dídac, Fernández López, Anna, Gean Molins, Esther, Suero Toledano, Patricia, Martínez-Monseny, Antonio
Published in Anales de Pediatría (01.07.2018)
Published in Anales de Pediatría (01.07.2018)
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Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity
González-Enseñat, M Antonia, Vicente, Asunción, Poo, Pilar, Catalá, Vicenç, Mar Pérez-Iribarne, M, Fuster, Carme, Geán, Esther, Happle, Rudolf
Published in Archives of dermatology (1960) (01.05.2009)
Published in Archives of dermatology (1960) (01.05.2009)
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The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia
Caparrós-Martín, Jose A, Valencia, María, Reytor, Edel, Pacheco, María, Fernandez, Margarita, Perez-Aytes, Antonio, Gean, Esther, Lapunzina, Pablo, Peters, Heiko, Goodship, Judith A, Ruiz-Perez, Victor L
Published in Human molecular genetics (01.01.2013)
Published in Human molecular genetics (01.01.2013)
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Identification of copy‐number variants in patients with overgrowth disorders
Miranda‐Alcaraz, Lucía, Silván, Cristina, Arias, Pedro, Pozo‐Román, Jesús, Arroyo, Ignacio, Galán, Enrique, Blanquer, Aleixandre, Garcı'a‐Alix, Alfredo, Santana, Alfredo, Alonso, Almudena, Gar‐cía, Ana Patiño, Bredani, Analía, Villavicencio, Andrea, Acosta, Angelina, González, Anna María Cueto, Baldellón, Antonio, Meneses, Antonio González, Gener, Blanca, Groisman, Boris, Perando‐nes, Claudia, Olivas, Cristina, Armenta, Daniel, Elorza, Dolores, Zamora, Elena, Zambrano, Elisa, Steichen, Elisabeth, Cruz, Enrique Caro, Gómez, Enrique Galán, Román, Enriqueta, Goldschmidt, Ernesto, Marfil, Esteban, Antolín, Eugenia, Ramos, Feliciano, Grondona, Fermina López, Martínez, Francisco, Uzielli, Giovannucci, Mercado, Graciela, Cassinelli, Hamilton, Arroyo, Ignacio, Pascual, Ignacio Pascual, Rio, Ignacio Vázquez, Bueno, Inés, Sánchez, Isabel Lorda, Campistol, Jaume, Arcas, Javier, Planells, Javier García, Liria, María José Jiménez, Almeida, José Carlos Cabral, Labarta, José Ignacio, Fuster, José Luis, Gutiérrez, Juan Carlos López, López Siguero, Juan P., Lara, Julián, Arranz, Leonor, Soriano, Leandro, De Alba, Liliana, Mar‐torell, Loreto, Jurado, Luis Pérez, Lozano, M. Ferrer, Merillas, M. Jesús Alija, Pérez, María Asunción García, Segovia, Mabel, Martínez, Margarita, Tabernero, Margarita, Ramos, María Antonia, Ballesta, Maria, Guardia, M. Nieves Martínez, Artigas, Mercedes, Villanueva, Mercedes, Campo, Miguel, Rosello, Mónica, Kantaputra, Nik, Matos, Pablo Prieto, Casano, Paula, Mallada, Paula Lalaguna, Olivares, Pe‐dro, Delgado, Raquel Perez, Bernardi, Priscila, León, Rafael Camino, Villaverde, Raquel Sáez, Gracia, Ricardo, Scott, Richard, Valdez, Rita, Arteaga, Rosa, Cazorla, Rosario, Iglesias, Rosario Marín, Bronberg, Rubén, Barreiro, Santiago Conde, Kapoor, Seema, Lopez, Trinidad García, Vendrell, Teresa, Tirado, Pilar, Huertos, Alicia Ureta, Lotersztein, Vanesa, Martín, Selma Vázquez, Seidel, Verónica, Albiach, Vicente, Soler, Virgina, Cosentino, Viviana, Lapunzina, Pablo
Published in Clinical genetics (01.11.2024)
Published in Clinical genetics (01.11.2024)
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
Tenorio, Jair, Alarcón, Pablo, Arias, Pedro, Dapía, Irene, García-Miñaur, Sixto, Palomares Bralo, María, Campistol, Jaume, Climent, Salvador, Valenzuela, Irene, Ramos, Sergio, Monseny, Antonio Martínez, Grondona, Fermina López, Botet, Javier, Serrano, Mercedes, Solís, Mario, Santos-Simarro, Fernando, Álvarez, Sara, Teixidó-Tura, Gisela, Fernández Jaén, Alberto, Gordo, Gema, Bardón Rivera, María Belén, Nevado, Julián, Hernández, Alicia, Cigudosa, Juan C, Ruiz-Pérez, Víctor L, Tizzano, Eduardo F, Lapunzina, Pablo
Published in European journal of human genetics : EJHG (01.04.2020)
Published in European journal of human genetics : EJHG (01.04.2020)
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith
Published in Scientific reports (19.08.2019)
Published in Scientific reports (19.08.2019)
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Front Cover
Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, del Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK? dene deletion
Bardaro, Tiziana, Falco, Geppino, Sparago, Angela, Mercadante, Vincenzo, Gean Molins, Esther, Tarantino, Enrico, Valeria Ursini, Matilde, D'Urso, Michele
Published in Human mutation (01.01.2003)
Published in Human mutation (01.01.2003)
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Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person
Fickie, Matthew R., Lapunzina, Pablo, Gentile, Jennifer K., Tolkoff-Rubin, Nina, Kroshinsky, Daniela, Galan, Enrique, Gean, Esther, Martorell, Loreto, Romanelli, Valeria, Toral, Joaquín Fernandez, Lin, Angela E.
Published in American journal of medical genetics. Part A (01.09.2011)
Published in American journal of medical genetics. Part A (01.09.2011)
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Diploid/triploid mosaicism: a variable but characteristic phenotype
Natera-De Benito, Daniel, Poo, Pilar, Gean, Esther, Vicente-Villa, Asunción, García-Cazorla, Angels, Fons-Estupiña, M Carmen
Published in Revista de neurologiá (16.08.2014)
Published in Revista de neurologiá (16.08.2014)
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Oral manifestations in Ellis-van Creveld syndrome: report of five cases
Cahuana, Abel, Palma, Camila, Gonzáles, Wilber, Geán, Esther
Published in Pediatric dentistry (01.05.2004)
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Published in Pediatric dentistry (01.05.2004)
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Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, V, Vicenç, Monrós, Eugènia
Published in Annals of neurology (01.11.2001)
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Published in Annals of neurology (01.11.2001)
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