Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome

Autor: Perez-Aytes, Antonio, Marin-Reina, Purificacion, Boso, Virginia, Ledo, Ana, Carey, John C., Vento, Maximo

Publikováno v: In European Journal of Medical Genetics January 2017 60(1):16-21

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Autor: Vergult, Sarah, Hoogeboom, A. Jeannette M., Bijlsma, Emilia K., Sante, Tom, Klopocki, Eva, De Wilde, Bram, Jongmans, Marjolijn, Thiel, Christian, Verheij, Joke B.G.M., Perez-Aytes, Antonio, Esch, Hilde Van, Kuechler, Alma, Barge-Schaapveld, Daniela Q.C.M., Sznajer, Yves, Mortier, Geert, Menten, Björn

Publikováno v: In Genetics in Medicine March 2013 15(3):195-202

Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía

Autor: Ezquieta, Begoña, Santomé, José L., Carcavilla, Atilano, Guillén-Navarro, Encarna, Pérez-Aytés, Antonio, Sánchez del Pozo, Jaime, García-Miñaur, Sixto, Castillo, Emilia, Alonso, Milagros, Vendrell, Teresa, Santana, Alfredo, Maroto, Enrique, Galbis, Liliana

Publikováno v: In Revista Española de Cardiología May 2012 65(5):447-455

Genomic newborn screening. Perspective from the Ethics Commission of the Spanish Society for Human Genetics. Part II: Ethical, legal and social issues (ELSIs) of the introduction of next generation sequencing technologies in a public health newborn screening program

Autor: Pàmpols Ros, T., Pérez Aytés, A., García Sagredo, J. M., Díaz Bustamante, A., Ignacio Blanco

Publikováno v: REVISTA ESPANOLA DE SALUD PUBLICA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scopus-Elsevier

Genome sequencing is a very attractive technology as it is also the idea of sequencing children at birth, with the aim to establish medical care and preventive actions during their whole life, tailo-red to the genome of each newborn. Part I of this a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bb5b503ce793e9d50489ec4e3e97a573
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15728

[Genomic newborn screening. Perspective from the Ethics Commission of the Spanish Society for Human Genetics. Part II: Ethical, legal and social issues (ELSIs) of the introduction of next generation sequencing technologies in a public health newborn screening program.]

Autor: Teresa, Pàmpols Ros, Antonio, Pérez Aytés, José Miguel, García Sagredo, Aránzazu, Díaz de Bustamante, Ignacio, Blanco Guillermo

Publikováno v: Revista espanola de salud publica. 96

Genome sequencing is a very attractive technology as it is also the idea of sequencing children at birth, with the aim to establish medical care and preventive actions during their whole life, tailored to the genome of each newborn. Part I of this ar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b8b03eec1fb334241a0a87b6b0b118cf
https://pubmed.ncbi.nlm.nih.gov/35283479