Zobrazeno 1 - 10
of 24
pro vyhledávání: '"María Ángeles Mori"'
Autor:
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that p
Externí odkaz:
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57
Autor:
Julián Nevado, Cristina Bel-Fenellós, Ana Karen Sandoval-Talamantes, Adolfo Hernández, Chantal Biencinto-López, María Luisa Martínez-Fernández, Pilar Barrúz, Fernando Santos-Simarro, María Ángeles Mori-Álvarez, Elena Mansilla, Fé Amalia García-Santiago, Isabel Valcorba, Belén Sáenz-Rico, María Luisa Martínez-Frías, Pablo Lapunzina
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental disorder of genetic cause. So far, a
Externí odkaz:
https://doaj.org/article/693608ff923e4dd8a5de9360da12054c
Autor:
Fe Amalia García‐Santiago, Cristina Martínez‐Payo, Elena Mansilla, Fernando Santos‐Simarro, Miguel Ruiz de Azua Ballesteros, María Ángeles Mori, Eugenia Antolín Alvarado, Yolanda Nieto, Isabel Vallcorba, Jair Tenorio, Julián Nevado, Pablo Lapunzina
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract Objective Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in four foetuses diagnosed
Externí odkaz:
https://doaj.org/article/cbde468b65524b1f9ca1fe71bd535868
Autor:
Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 210-219 (2014)
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum
Externí odkaz:
https://doaj.org/article/6101bc0de0dd4288ba9efef3ffc10c8e
Autor:
Ana Karen Sandoval-Talamantes, María Ángeles Mori, Fernando Santos-Simarro, Sixto García-Miñaur, Elena Mansilla, Jair Antonio Tenorio, Carolina Peña, Carmen Adan, María Fernández-Elvira, Inmaculada Rueda, Pablo Lapunzina, Julián Nevado
Publikováno v:
Genes; Volume 14; Issue 4; Pages: 820
Autism spectrum disorders (ASD) comprise a group of neurodevelopmental disorders (NDD) characterized by deficits in communication and social interaction, as well as repetitive and restrictive behaviors, etc. The genetic implications of ASD have been
Autor:
Romina Armando, Julián Nevado, Vanesa Lotersztein, Cinthia Martínez, María Ángeles Mori, Sandra Rozental, María Palomares, Lucía D. Espeche, Rubén Martín Arenas, Pablo Lapunzina, Myriam Perez, Andrea Solari, Mabel Segovia, Liliana Dain
Publikováno v:
Molecular Biology Reports. 47:6863-6878
Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination of its etiology is usually complex. Though many countries have migrated from conventional
Autor:
Lucía Daniela, Espeche, Andrea Paula, Solari, María Ángeles, Mori, Rubén Martín, Arenas, María, Palomares, Myriam, Pérez, Cinthia, Martínez, Vanesa, Lotersztein, Mabel, Segovia, Romina, Armando, Liliana Beatriz, Dain, Julián, Nevado, Pablo, Lapunzina, Sandra, Rozental
Publikováno v:
Molecular biology reports. 47(9)
Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination of its etiology is usually complex. Though many countries have migrated from conventional
Autor:
Roberto Giorda, Maria Clara Bonaglia, Philippos C. Patsalis, Debora Vergani, Diane N Abuelo, María Ángeles Mori, Marilena Carmela Di Giacomo, Julián Nevado, Fabrizia Franchi, Vanna Pecile, Mana M. Mehrjouy, Giancarlo Discepoli, Carolina Sismani, Andressa Pereira Gonçalves, Sabrina Giglio, Silvana Beri, Ivana Ricca, Francesca Novara, Micheala A. Aldred, Paolo Reho, Edoardo Errichiello, Aldesia Provenzano, Cíntia Barros Santos-Rebouças, Sara Bertuzzo, Nehir Edibe Kurtas, Orsetta Zuffardi, Niels Tommerup
Publikováno v:
Bonaglia, M C, Kurtas, N E, Errichiello, E, Bertuzzo, S, Beri, S, Mehrjouy, M M, Provenzano, A, Vergani, D, Pecile, V, Novara, F, Reho, P, Di Giacomo, M C, Discepoli, G, Giorda, R, Aldred, M A, Santos-Rebouças, C B, Goncalves, A P, Abuelo, D N, Giglio, S, Ricca, I, Franchi, F, Patsalis, P, Sismani, C, Morí, M A, Nevado, J, Tommerup, N & Zuffardi, O 2018, ' De novo unbalanced translocations have a complex history/aetiology ', Human Genetics, vol. 137, no. 10, pp. 817-829 . https://doi.org/10.1007/s00439-018-1941-9
Human Genetics
Human Genetics
We investigated 52 cases of de novo unbalanced translocations, consisting in a terminally deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal portion of another chromosome or its opposite end was transposed. Array
Autor:
Carlos Rodriguez-Antolin, C. Prior, Rosa J. Torres, Clara Gómez-González, Angela del Pozo, Javier Sanguino, Alvaro García-Guede, Rocío Rosas-Alonso, Samuel I. Pascual, Inmaculada Ibáñez de Cáceres, María Ángeles Mori, Isabel Esteban
Publikováno v:
European Journal of Medical Genetics. 64:104170
X-linked myotubular myopathy (XLMTM; OMIM 310400) is a centronuclear congenital muscular disorder of X-linked recessive inheritance. Although female carriers are typically asymptomatic, affected heterozygous females have been described. Here, we desc
Autor:
Elena Vallespín, Jordi Rosell, Fe Amalia García-Santiago, María Ángeles Mori, María Luisa de Torres, Julián Nevado, Blanca Sierra, Antonio González Meneses, Victor Martinez-Glez, Alicia Delicado, Fernando Santos, Maria Oliver-Bonet, Luis Fernández, Pablo Lapunzina, Ángeles Pérez Granero, Sixto García-Miñaur, Karen E. Heath, María Palomares, Elena Mansilla
Publikováno v:
Universitat Autònoma de Barcelona
Inverted duplication 8p associated with deletion of the short arms of chromosome 8 (invdupdel[8p]) is a relatively uncommon complex chromosomal rearrangement, with an estimated incidence of 1 in 10,000-30,000 live borns. The chromosomal rearrangement