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: Ros, TP, Aytes, AP, Sagredo, JMG, de Bustamante, AD, Guillermo, IB

Publikováno v: Revista Espanola de Salud Publica
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

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=RECOLECTA___::b9b7fc0252856a17e323abe7362b46f2
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7158

Half a century of newborn screening in Spain: Evolution of ethical, legal and social issues (ELSIs). Part III, social issues

Autor: Canadas, MVL, Ros, TP, Iniguez, ED, Aytes, AP, Sagredo, JMG, de Bustamante, AD, Arribas, CM, Lopez, FJG, Jimenez, PN

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

Decision making for the development of newborn screening programs is based on not only medical but also social concerns and involves different stakeholders. Part III of the article focuses on their role in the governance of the programs. First of all

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b8819af900fadd1455a170df423dac12
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13916

X-linked hydrocephalus: Another two families with an L1 mutation

Autor: Criado, GR, Aytes, AP, Martinez, F, Vos, YJ, Verlind, E, Lopez, AGM, Sanchez, IGD, Schrander-Stumpel, C

Publikováno v: GENET COUNSEL
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetic counseling, 14(1), 57-65

X-linked hydrocephalus: another two families with an Ll mutation: X-linked hydrocephalus is a variable condition caused by mutations in the gene encoding for LICAM. This gene is located at Xq28. Clinically the spectrum ranges from males with lethal c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e6633be54b377900315b3037ec8ad81b
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3970

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Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.

Autor: Martinez-Garcia M; Servicio de Genética, Hospital Fundación Jiménez Díaz, Avenida Reyes Católicos 2, 28040, Madrid, Spain. monmarga@hotmail.com.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain. monmarga@hotmail.com., Garcia-Canto E; Servicio de Pediatría, Hospital Marina Baixa, Villajoyosa, Alicante, Spain., Fenollar-Cortes M; Sección de Genética Clínica, Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, Spain., Aytes AP; Unidad de Dismorfología y Genética Reproductiva, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Grupo de Investigación en Perinatología, Instituto de Investigación Sanitaria Hospital La Fe, Valencia, Spain., Trujillo-Tiebas MJ; Servicio de Genética, Hospital Fundación Jiménez Díaz, Avenida Reyes Católicos 2, 28040, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

Publikováno v: Journal of bone and mineral metabolism [J Bone Miner Metab] 2016 Sep; Vol. 34 (5), pp. 599-603. Date of Electronic Publication: 2015 Aug 15.