Pesquisa | Portal de Pesquisa da BVS

1.

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Bedoni, Nicola; Quinodoz, Mathieu; Pinelli, Michele; Cappuccio, Gerarda; Torella, Annalaura; Nigro, Vincenzo; Testa, Francesco; Simonelli, Francesca; Corton, Marta; Lualdi, Susanna; Lanza, Federica; Morana, Giovanni; Ayuso, Carmen; Di Rocco, Maja; Filocamo, Mirella; Banfi, Sandro; Brunetti-Pierri, Nicola; Superti-Furga, Andrea; Rivolta, Carlo.

Hum Mol Genet ; 29(13): 2250-2260, 2020 Aug 03.

Artigo em Inglês | MEDLINE | ID: mdl-32533184

2.

Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.

Tarilonte, Maria; Ramos, Patricia; Moya, Jennifer; Fernandez-Sanz, Guilermo; Blanco-Kelly, Fiona; Swafiri, Saoud Tahsin; Villaverde, Cristina; Romero, Raquel; Tamayo, Alejandra; Gener, Blanca; Calvas, Patrick; Ayuso, Carmen; Corton, Marta.

J Med Genet ; 2021 Mar 29.

Artigo em Inglês | MEDLINE | ID: mdl-33782094

3.

CSVS, a crowdsourcing database of the Spanish population genetic variability.

Peña-Chilet, María; Roldán, Gema; Perez-Florido, Javier; Ortuño, Francisco M; Carmona, Rosario; Aquino, Virginia; Lopez-Lopez, Daniel; Loucera, Carlos; Fernandez-Rueda, Jose L; Gallego, Asunción; García-Garcia, Francisco; González-Neira, Anna; Pita, Guillermo; Núñez-Torres, Rocío; Santoyo-López, Javier; Ayuso, Carmen; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Moreno-Pelayo, Miguel Ángel; Morin, Matías; Gallego-Martinez, Alvaro; Lopez-Escamez, Jose A; Borrego, Salud; Antiñolo, Guillermo; Amigo, Jorge; Salgado-Garrido, Josefa; Pasalodos-Sanchez, Sara; Morte, Beatriz; Carracedo, Ángel; Alonso, Ángel; Dopazo, Joaquín.

Nucleic Acids Res ; 2020 Sep 29.

Artigo em Inglês | MEDLINE | ID: mdl-32990755

4.

IL-6-based mortality prediction model for COVID-19: Validation and update in multicenter and second wave cohorts.

Utrero-Rico, Alberto; Ruiz-Hornillos, Javier; González-Cuadrado, Cecilia; Rita, Claudia Geraldine; Almoguera, Berta; Minguez, Pablo; Herrero-González, Antonio; Fernández-Ruiz, Mario; Carretero, Octavio; Taracido-Fernández, Juan Carlos; López-Rodriguez, Rosario; Corton, Marta; Aguado, José María; Villar, Luisa María; Ayuso-García, Carmen; Paz-Artal, Estela; Laguna-Goya, Rocio.

J Allergy Clin Immunol ; 2021 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-33662370

5.

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.

Olivier, Guillaume; Corton, Marta; Intartaglia, Daniela; Verbakel, Sanne K; Sergouniotis, Panagiotis I; Le Meur, Guylène; Dhaenens, Claire-Marie; Naacke, Hélène; Avila-Fernández, Almudena; Hoyng, Carel B; Klevering, Jeroen; Bocquet, Béatrice; Roubertie, Agathe; Sénéchal, Audrey; Banfi, Sandro; Muller, Agnès; Hamel, Christian L; Black, Graeme C; Conte, Ivan; Roosing, Susanne; Zanlonghi, Xavier; Ayuso, Carmen; Meunier, Isabelle; Manes, Gaël.

J Med Genet ; 2020 Aug 17.

Artigo em Inglês | MEDLINE | ID: mdl-32817297

6.

Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells.

Artero-Castro, Ana; Long, Kathleen; Bassett, Andrew; Ávila-Fernandez, Almudena; Cortón, Marta; Vidal-Puig, Antonio; Jendelova, Pavla; Rodriguez-Jimenez, Francisco Javier; Clemente, Eleonora; Ayuso, Carmen; Slaven, Erceg.

Int J Mol Sci ; 22(4)2021 Feb 20.

Artigo em Inglês | MEDLINE | ID: mdl-33672445

7.

CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.

Bonet-Fernández, Juan-Manuel; Aroca-Aguilar, José-Daniel; Corton, Marta; Ramírez, Ana-Isabel; Alexandre-Moreno, Susana; García-Antón, María-Teresa; Salazar, Juan-José; Ferre-Fernández, Jesús-José; Atienzar-Aroca, Raquel; Villaverde, Cristina; Iancu, Ionut; Tamayo, Alejandra; Méndez-Hernández, Carmen-Dora; Morales-Fernández, Laura; Rojas, Blanca; Ayuso, Carmen; Coca-Prados, Miguel; Martinez-de-la-Casa, José-Maria; García-Feijoo, Julián; Escribano, Julio.

Hum Genet ; 139(10): 1209-1231, 2020 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-32274568

8.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Zazo-Seco, Celia; Plaisancié, Julie; Bitoun, Pierre; Corton, Marta; Arteche, Ana; Ayuso, Carmen; Schneider, Adele; Zafeiropoulou, Dimitra; Gilissen, Christian; Roche, Olivier; Frémont, Felix; Calvas, Patrick; Slavotinek, Anne; Ragge, Nicola; Chassaing, Nicolas.

J Hum Genet ; 65(5): 487-491, 2020 May.

Artigo em Inglês | MEDLINE | ID: mdl-32015378

9.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

García-García, Gema; Sanchez-Navarro, Iker; Aller, Elena; Jaijo, Teresa; Fuster-Garcia, Carla; Rodríguez-Munoz, Ana; Vallejo, Elena; Tellería, Juan José; Vázquez, Selma; Beltrán, Sergi; Derdak, Sophia; Zurita, Olga; Villaverde-Montero, Cristina; Avila-Fernández, Almudena; Corton, Marta; Blanco-Kelly, Fiona; Hakonarson, Hakon; Millán, José M; Ayuso, Carmen.

Mol Vis ; 26: 216-225, 2020.

Artigo em Inglês | MEDLINE | ID: mdl-32214787

10.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Ragge, Nicola; Isidor, Bertrand; Bitoun, Pierre; Odent, Sylvie; Giurgea, Irina; Cogné, Benjamin; Deb, Wallid; Vincent, Marie; Le Gall, Jessica; Morton, Jenny; Lim, Derek; Le Meur, Guylène; Zazo Seco, Celia; Zafeiropoulou, Dimitra; Bax, Dorine; Zwijnenburg, Petra; Arteche, Anara; Swafiri, Saoud Tahsin; Cleaver, Ruth; McEntagart, Meriel; Kini, Usha; Newman, William; Ayuso, Carmen; Corton, Marta; Herenger, Yvan; Jeanne, Médéric; Calvas, Patrick; Chassaing, Nicolas.

Hum Genet ; 138(8-9): 1051-1069, 2019 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-29974297

11.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Ceroni, Fabiola; Aguilera-Garcia, Domingo; Chassaing, Nicolas; Bax, Dorine Arjanne; Blanco-Kelly, Fiona; Ramos, Patricia; Tarilonte, Maria; Villaverde, Cristina; da Silva, Luciana Rodrigues Jacy; Ballesta-Martínez, Maria Juliana; Sanchez-Soler, Maria Jose; Holt, Richard James; Cooper-Charles, Lisa; Bruty, Jonathan; Wallis, Yvonne; McMullan, Dominic; Hoffman, Jonathan; Bunyan, David; Stewart, Alison; Stewart, Helen; Lachlan, Katherine; Fryer, Alan; McKay, Victoria; Roume, Joëlle; Dureau, Pascal; Saggar, Anand; Griffiths, Michael; Calvas, Patrick; Ayuso, Carmen; Corton, Marta; Ragge, Nicola K.

Hum Genet ; 138(8-9): 1027-1042, 2019 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-29464339

12.

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F; Banfi, Sandro; De Baere, Elfride.

Genet Med ; 21(4): 1028, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30607024

13.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F; Banfi, Sandro; De Baere, Elfride.

Genet Med ; 21(6): 1319-1329, 2019 06.

Artigo em Inglês | MEDLINE | ID: mdl-30377383

14.

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

Martin-Merida, Inmaculada; Avila-Fernandez, Almudena; Del Pozo-Valero, Marta; Blanco-Kelly, Fiona; Zurita, Olga; Perez-Carro, Raquel; Aguilera-Garcia, Domingo; Riveiro-Alvarez, Rosa; Arteche, Ana; Trujillo-Tiebas, Maria Jose; Tahsin-Swafiri, Saoud; Rodriguez-Pinilla, Elvira; Lorda-Sanchez, Isabel; Garcia-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen.

Ophthalmology ; 126(8): 1181-1188, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-30902645

15.

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Avila-Fernandez, Almudena; Perez-Carro, Raquel; Corton, Marta; Lopez-Molina, Maria Isabel; Campello, Laura; Garanto, Alejandro; Fernandez-Sanchez, Laura; Duijkers, Lonneke; Lopez-Martinez, Miguel Angel; Riveiro-Alvarez, Rosa; Da Silva, Luciana Rodrigues Jacy; Sanchez-Alcudia, Rocío; Martin-Garrido, Esther; Reyes, Noelia; Garcia-Garcia, Francisco; Dopazo, Joaquin; Garcia-Sandoval, Blanca; Collin, Rob W J; Cuenca, Nicolas; Ayuso, Carmen.

Hum Mol Genet ; 24(14): 4037-48, 2015 Jul 15.

Artigo em Inglês | MEDLINE | ID: mdl-25882705

16.

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

Blanco-Kelly, Fiona; Rodrigues-Jacy da Silva, Luciana; Sanchez-Navarro, Iker; Riveiro-Alvarez, Rosa; Lopez-Martinez, Miguel Angel; Corton, Marta; Ayuso, Carmen.

BMC Med Genet ; 18(1): 1, 2017 Jan 07.

Artigo em Inglês | MEDLINE | ID: mdl-28061825

17.

Mutations in IMPG1 cause vitelliform macular dystrophies.

Manes, Gaël; Meunier, Isabelle; Avila-Fernández, Almudena; Banfi, Sandro; Le Meur, Guylène; Zanlonghi, Xavier; Corton, Marta; Simonelli, Francesca; Brabet, Philippe; Labesse, Gilles; Audo, Isabelle; Mohand-Said, Saddek; Zeitz, Christina; Sahel, José-Alain; Weber, Michel; Dollfus, Hélène; Dhaenens, Claire-Marie; Allorge, Delphine; De Baere, Elfride; Koenekoop, Robert K; Kohl, Susanne; Cremers, Frans P M; Hollyfield, Joe G; Sénéchal, Audrey; Hebrard, Maxime; Bocquet, Béatrice; Ayuso García, Carmen; Hamel, Christian P.

Am J Hum Genet ; 93(3): 571-8, 2013 Sep 05.

Artigo em Inglês | MEDLINE | ID: mdl-23993198

18.

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.

Castro-Sánchez, Sheila; Álvarez-Satta, María; Cortón, Marta; Guillén, Encarna; Ayuso, Carmen; Valverde, Diana.

J Med Genet ; 52(8): 503-13, 2015 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-26082521

19.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Corton, Marta; Avila-Fernandez, Almudena; Vallespín, Elena; López-Molina, María Isabel; Almoguera, Berta; Martín-Garrido, Esther; Tatu, Sorina D; Khan, M Imran; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Brión, María; García-Sandoval, Blanca; Cremers, Frans P M; Carracedo, Angel; Ayuso, Carmen.

Ophthalmology ; 121(1): 399-407, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-24144451

20.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi, Koji M; Avila-Fernandez, Almudena; van Huet, Ramon A C; Corton, Marta; Pérez-Carro, Raquel; Martín-Garrido, Esther; López-Molina, María Isabel; Blanco-Kelly, Fiona; Hoefsloot, Lies H; van Zelst-Stams, Wendy A; García-Ruiz, Pedro J; Del Val, Javier; Di Gioia, Silvio Alessandro; Klevering, B Jeroen; van de Warrenburg, Bart P C; Vazquez, Carlos; Cremers, Frans P M; García-Sandoval, Blanca; Hoyng, Carel B; Collin, Rob W J; Rivolta, Carlo; Ayuso, Carmen.

Ophthalmology ; 121(8): 1620-7, 2014 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-24697911

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