Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Antonio Martinez-Monseny"'
Autor:
Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract Background Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypoton
Externí odkaz:
https://doaj.org/article/92ae34d47439495b8fb61f31cc49ae89
Autor:
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández-Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
SUMMARYBackgroundKBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been published. Both loss-of-function sequence variants and large deletions (CNVs) involving ANKRD11 hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772e2630b0edef5f7aa24d37fceea547
https://doi.org/10.1101/2022.04.11.22271283
https://doi.org/10.1101/2022.04.11.22271283
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Autor:
Katherine A. Bosanko, Jennifer L. Fish, Antonio Martinez-Monseny, Amy M. DiMarino, Yuri A. Zarate, Demitrios Dedousis, Anna L. Mitchell, Mir Reza Bekheirnia, Veronica Seidel, David T. Miller, Lea Velsher, Cynthia J. Curry, Aisling R. Caffrey, Mary Ann Thomas, Tyler Mark Pierson, Meena Balasubramanian, Nicole Fleischer, John M. Graham, Angelika Riess, Kristina Cusmano-Ozog, Ronald V. Lacro
Publikováno v:
CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
SATB2-Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (ΔSAS) have been describe
Autor:
Jordi Muchart, Dídac Casas-Alba, Alfredo García-Alix, Antonio Martinez-Monseny, Federico Ramos, César Arjona, Mercè Bolasell, Paula Casano, Loreto Martorell, Mercedes Serrano, Francesc Palau
Publikováno v:
American Journal of Medical Genetics Part A. 182:20-24
Okur-Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. It is characterized by intellectual disability, hypotonia, feeding and speech difficulties, dysmorphic features, and multisy
Autor:
Mario Solís, Bardón Rivera Mb, Jair Tenorio, Salvador Climent, Pablo Lapunzina, Pablo Alarcón, Gisela Teixido-Tura, Fermina López Grondona, Victor L. Ruiz-Perez, Antonio Martinez Monseny, Juan C. Cigudosa, Mercedes Serrano, Eduardo F. Tizzano, Sara Alvarez, Irene Valenzuela, Gema Gordo, Sergio Ramos, Fernando Santos-Simarro, Fernández Jaén A, Julián Nevado, Palomares Bralo M, Sixto García-Miñaur, Irene Dapía, Jaime Campistol, Alicia Hernández, Pedro Arias, Javier Botet
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Eur J Hum Genet
instname
Eur J Hum Genet
Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially duri
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9610, p 9610 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitous expression. Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affects mainly
Autor:
E. Aísa, V. Freniche, Oscar Jerez García, Belén Pérez-Dueñas, N. Conde-Lorenzo, Celia Pérez-Cerdá, M.C. Miranda, Mercè Bolasell, Jordi Muchart, Manuel B. Morales, D. Itzep, F. Carratalá, I. Sebastián-García, Maria Eugenia Yoldi, E. de la Morena, S. Gassiot, L. López, María L. Couce, Jaak Jaeken, Sergio Aguilera-Albesa, Rafael Artuch, Raquel Montero, P. Arango, Luis González Gutiérrez-Solana, Dídac Casas-Alba, Daniel Cuadras, Mercedes Serrano, Susana Roldán, M.L. Carrasco-Marina, Antonio Martinez-Monseny, Alfons Macaya, Belén Pérez, Eduardo López-Laso, Javier Corral, L. Callejón-Póo, Ramón Velázquez-Fragua, M.C. Sierra-Córcoles, Ramón Cancho-Candela
Publikováno v:
Annals of Neurology. 85:740-751
Objective: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for
Autor:
Antonio, Martinez-Monseny, Daniel, Cuadras, Mercè, Bolasell, Jordi, Muchart, César, Arjona, Mar, Borregan, Adi, Algrabli, Raquel, Montero, Rafael, Artuch, Ramón, Velázquez-Fragua, Alfons, Macaya, Celia, Pérez-Cerdá, Belén, Pérez-Dueñas, Belén, Pérez, Mercedes, Serrano, Oscar, Garcia
Publikováno v:
Journal of Medical Genetics. 56:236-245
IntroductionPhosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype–genotype correlation. We performed a detailed dysmorphology evaluatio
Autor:
Cdg Spanish-Consortium, D. Itzep, Daniel Cuadras, Belén Pérez-Dueñas, Luis González Gutiérrez-Solana, Antonio Martinez-Monseny, Mercè Bolasell, Ramón Velázquez-Fragua, Alfons Macaya, Mercedes Serrano
Publikováno v:
Neuropediatrics. 49:408-413
Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively
Autor:
Antonio Martinez-Monseny, Maddy Ashwin Reddy, Alice Gardham, Marios Kaliakatsos, L. Jeanjean, Elisabeth Rosser, Sabine Defoort, Mariona Vidal-Santacana, Nadia Giordano, Grant T. Liu, Ngozi Oluonye, Matteo Caleo, Sung Jun Ahn, Ungsoo Samuel Kim, Jinu Han, Isabelle Meunier, Michele Bertacchi, Richard Bowman, Emma Bedoukian, Gavin Arno, Patrick Yu-Wai-Man, Majida Charif, Guy Lenaers, Neringa Jurkute, Patrizia Amati-Bonneau, Andrew R. Webster, Catherine Vincent-Delorme, James Acheson, Elaine Clark, Chloé Dominici, Indran Davagnanam, Adam M Kruszewski, Graham E. Holder, Anthony G. Robson, Emma Wakeling, Robert A. Avery, Nikolas Pontikos, Chiara Tocco, Cedric Gaggioli, Michèle Studer
Publikováno v:
Brain Communications
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch–Boonstra–Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cel