X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Autor: Martínez F, Sánchez A, Badenas C, Rodriguez B, Armengol L, González E, Rodríguez-Revenga L, Madrigal I, Guitart M, Fernández-Carvajal I, Arranz JA, Tejada MI, Pérez-Jurado LA, Estivill X, Milà M

Publikováno v: BMC Genomics, Vol 8, Iss 1, p 443 (2007)

Abstract Background Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rear

Externí odkaz: https://doaj.org/article/49c04009876d4c6f9d634c4964a83c8b

A-265 - Phenocopies in melanoma families with germline mutations in CDKN2A are associated to MC1R polymorphisms and high total body nevus count

Autor: Luna, A., Serra, E., Abarzúa, A., Potrony, M., Badenas, C., Podlipnik, S., Carrera, C., Malvehy, J., Puig, S., Aguilera, P.

Publikováno v: In EJC Skin Cancer 2024 2 Supplement 1

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses

Autor: Xunclà, M., Badenas, C., Domínguez, M., Rodríguez-Revenga, L., Madrigal, I., Jiménez, L., Soler, A., Borrell, A., Sánchez, A., Milà, M.

Publikováno v: In Reproductive BioMedicine Online 2010 21(4):560-565

REAL-WORLD ASSESSMENT OF THE NON-INVASIVE RATIO OF EXCHANGEABLE COPPER (REC) AS A MARKER OF WILSON'S DISEASE IN A MULTICENTRIC COHORT OF PEDIATRIC AND ADULT PATIENTS

Autor: Molera C, Marino, Z, Bernabeu, JQ, Moreno-Garcia J, Forns, X, Larrarte, M, Mercadal, MM, Martín-de-Carpi J, Pascual, A, Juamperez, J, Badenas, C, Artuch-Iriberri R

Publikováno v: Hepatology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::9107e16affaa90ab7362be92725f0904
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20336

Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?

Autor: Miranda J, Paz Y Miño F, Borobio V, Badenas C, Rodriguez-Revenga L, Pauta M, Borrell A

Publikováno v: ULTRASOUND IN OBSTETRICS & GYNECOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

OBJECTIVE: To assess the frequency of atypical chromosomal and submicroscopic anomalies, as well as fetal structural abnormalities, observed on first-trimester ultrasound scan in fetuses with nuchal translucency (NT) thickness > 99(th) centile, in or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::05151738ba6184d3f14015bc81cfc556
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16421