Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Lorena Fernández-Martínez"'
Publikováno v:
Access Microbiology. 4
Most of the antibiotic biosynthetic gene clusters (BGCs) in Streptomyces are not expressed under laboratory conditions, however these clusters are maintained in the genomes, therefore indicating that they must play important roles in adaptation and s
Publikováno v:
Edge Hill University
Bioprospecting of underexplored environments and microbiomes remains one of the core strategies for drug discovery. Páramos, a high-altitude ecosystem and evolutionary hotspot in the northern Andes of South America, harbour microbial diversity yet t
Publikováno v:
Edge Hill University
The current threat of antimicrobial resistance, the surge in antimicrobial compounds rendered obsolete and the slow emergence of new classes of antibiotics havetriggeredan urgent call for novel alternatives to treat infectious diseases. The vast micr
Autor:
Pilar Blay, Soledad Fernández, Héctor Torres, Marta G. Alvarado, Íñigo Santamaría, Lorena Fernández-Martínez, Ana S. Pitiot, Ángeles Paredes, José Antonio Villegas, Milagros Balbín
Publikováno v:
Scopus
BMC Cancer
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
BMC Cancer
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Background DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood.
Autor:
Gunnar Houge, Axel von der Wense, Christian Becker, Pierre Bitoun, Francesca Pasutto, Gudrun Nürnberg, David Chitayat, John Tolmie, Peter Meinecke, David R. FitzPatrick, André Reis, Anne Slavotinek, Geert Mortier, Gerhard Hammersen, Sarah Keating, Raoul C.M. Hennekam, Heinrich Sticht, Peter Nürnberg, Heidemarie Schirmer-Zimmermann, Lorena Fernández-Martínez, Gabriele Gillessen-Kaesbach, Frank Brasch, Anita Rauch
Publikováno v:
American journal of human genetics, 80(3), 550-560. Cell Press
Pasutto, F, Sticht, H, Hammersen, G, Gillessen-Kaesbach, G, Fitzpatrick, D R, Nürnberg, G, Brasch, F, Schirmer-Zimmermann, H, Tolmie, J L, Chitayat, D, Houge, G, Fernández-Martínez, L, Keating, S, Mortier, G, Hennekam, R C M, von der Wense, A, Slavotinek, A, Meinecke, P, Bitoun, P, Becker, C, Nürnberg, P, Reis, A & Rauch, A 2007, ' Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation ', American Journal of Human Genetics, vol. 80, no. 3, pp. 550-60 . https://doi.org/10.1086/512203
Pasutto, F, Sticht, H, Hammersen, G, Gillessen-Kaesbach, G, Fitzpatrick, D R, Nürnberg, G, Brasch, F, Schirmer-Zimmermann, H, Tolmie, J L, Chitayat, D, Houge, G, Fernández-Martínez, L, Keating, S, Mortier, G, Hennekam, R C M, von der Wense, A, Slavotinek, A, Meinecke, P, Bitoun, P, Becker, C, Nürnberg, P, Reis, A & Rauch, A 2007, ' Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation ', American Journal of Human Genetics, vol. 80, no. 3, pp. 550-60 . https://doi.org/10.1086/512203
We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic herni
Autor:
Stef J.F. Letteboer, Nicole Weisschuh, Friedrich E. Kruse, Bernhard H. F. Weber, Francesca Pasutto, Paulo Ademar Avelar Ferreira, André Reis, Eugen Gramer, Lorena Fernández-Martínez, Christian Y. Mardin, Bernd Rautenstrauss, Ronald Roepman
Publikováno v:
European Journal of Human Genetics, 19, 445-51
European Journal of Human Genetics, 19, 4, pp. 445-51
European Journal of Human Genetics, 19, 4, pp. 445-51
Item does not contain fulltext Glaucoma is a genetically heterogeneous disorder and is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons. Very few genes causing glaucoma were identified to this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dab40183a7533327c6655d998c7b89a
http://hdl.handle.net/2066/96893
http://hdl.handle.net/2066/96893
Autor:
Lorena Fernández-Martínez, Gabriela Chavarria-Soley, Christian Y. Mardin, Karin Michels-Rautenstrauss, André Reis, Magnus Ingelman-Sundberg, Bernhard H. F. Weber, Bernd Rautenstrauss, Francesca Pasutto
Publikováno v:
Investigative Ophthalmology & Visual Science, vol. 51(1), pp. 249-254
Kérwá
Universidad de Costa Rica
instacron:UCR
Kérwá
Universidad de Costa Rica
instacron:UCR
Purpose.: Although primary congenital glaucoma (PCG)–associated CYP1B1 mutations in the heterozygous state have been evaluated for association with primary open-angle glaucoma (POAG) in several small studies, their contribution to the occurrence of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af8362063dfdba327e9f7aca8c08ee1c