Zobrazeno 1 - 10
of 70
pro vyhledávání: '"M, Rodriguez de Alba"'
Autor:
A. Mayas Flores, A. Delgado Martínez, J. Plaza Arranz, M. Álvaro Navidad, M. Rodriguez De Alba, M. Ruiz Ramos, R. Senosiain Echarte
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 58:18-18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::826233f1ae68a755d737986073198f46
https://doi.org/10.1002/uog.23812
https://doi.org/10.1002/uog.23812
Autor:
C. Velez-Monsalve, I. Galan, C. Hernandez-Rodriguez, A. Arteche-Lopez, M. Trujillo–Tiebas, M. Rodriguez de Alba, Laura Rodríguez, C. Linares, Jesus Gallego-Merlo, I. Lorda-Sánchez, Carmen Ayuso, M. Gago, Ana Bustamante-Aragones, Almudena Avila-Fernandez, B. Acebedo-Martin
Publikováno v:
Reproductive BioMedicine Online. 39:e60-e61
Introduction Genetic diagnosis has evolved dramatically mainly due to application of NGS approaches. Identification of mutations in different genes related with the disease and interpretation of pathogenicity of the new genetic variants found are som
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5de031a733e9d4235031f3dc0885ffa0
https://doi.org/10.1016/j.rbmo.2019.04.109
https://doi.org/10.1016/j.rbmo.2019.04.109
Akademický článek
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Autor:
M. Rodriguez de Alba, Jesus Gallego-Merlo, C. González-González, Diego Cantalapiedra, Carmen Ramos, M J Trujillo-Tiebas, Ana Bustamante-Aragones, Carmen Ayuso
Publikováno v:
European Journal of Neurology. 15:1338-1344
Background and purpose: The presence of cell-free fetal DNA in maternal plasma could allow performing a non-invasive prenatal diagnosis of Huntington disease (HD). The great advantage of this diagnosis is the absence of risk of fetal loss that it ent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b5e5517041e701f786ff4f956dfc868
https://doi.org/10.1111/j.1468-1331.2008.02312.x
https://doi.org/10.1111/j.1468-1331.2008.02312.x
Autor:
D. Diego Alvarez, Carmen Ayuso, Carmen Ramos, J. Díaz-Recasens, M. Cristina González-González, M. Rodriguez de Alba, M. Jose Trujillo-Tiebas, A. Bustamante Aragonés, Maria Garcia-Hoyos
We focused on the improvements of prenatal diagnosis by the analysis of DNA from maternal plasma, using Huntington disease as a model of disease.We studied plasma from a pregnancy at risk of having a fetus affected with Huntington disease by the use
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c47a376caf5f3243d51cd058adffd4
https://europepmc.org/articles/PMC2582097/
https://europepmc.org/articles/PMC2582097/
Autor:
Elena Vallespín, J. Plaza, Dan Diego-Alvarez, Carmen Ayuso, C. González-González, M J Trujillo-Tiebas, M. Rodriguez de Alba, Ana Bustamante-Aragones, Carmen Ramos
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 14(3)
The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c598bd5d8c65475c457a6196a3d6e5b
https://pubmed.ncbi.nlm.nih.gov/18328062
https://pubmed.ncbi.nlm.nih.gov/18328062
Autor:
I, Lorda-Sanchez, R, Sanz, M A, Diaz-Guillen, J, Fernandez-Toral, D, Heine-Suñer, M, Rodriguez De Alba, C, Gonzalez-Gonzalez, M J, Trujillo, C, Ramos, S, Rodriguez De Cordoba, C, Ayuso
Publikováno v:
Genetic counseling (Geneva, Switzerland). 13(2)
Aniridia can arise as part of the WAGR syndrome (Wilms tumour. aniridia, genitourinary anomalies, and mental retardation), due to a deletion or chromosomal region 11p13. We report a girl with a complete WAGR syndrome, whose brother presented hypospad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2fba3706dcc56119119cc5420a7f4aa2
https://pubmed.ncbi.nlm.nih.gov/12150218
https://pubmed.ncbi.nlm.nih.gov/12150218
Autor:
I, Lorda-Sanchez, C, Tejedor, R, Sanz, M, Rodriguez de Alba, A, de la Fuente, E, Fernandez, C, Ayuso, C, Ramos
Publikováno v:
Genetic counseling (Geneva, Switzerland). 12(1)
We report two infertile brothers presenting with azoospermia and oligozoospermia. Cytogenetic studies using G-banding and FISH analysis on lymphocyte cultures revealed an autosomal balanced reciprocal translocation t(1;22)(q11;p11) in both males. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::101693daf9372d504c5e8c4c9ebc5c82
https://pubmed.ncbi.nlm.nih.gov/11332984
https://pubmed.ncbi.nlm.nih.gov/11332984
Autor:
I, Lorda-Sanchez, I, Lopez-Pajares, M C, Roche, R, Sanz, M, Rodriguez de Alba, M C, Gonzalez-Gonzalez, A, Ibañez, C, Ramos, C, Ayuso
Publikováno v:
American journal of medical genetics. 95(4)
We report on a girl with minor anomalies and developmental delay carrying an apparently balanced paracentric inversion of chromosome 6q (q22qter). Fluorescent in situ hybridization analysis demonstrated a deletion of the subtelomeric region of 6q. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::542a2d974037b6b4b859c479e79ec382
https://pubmed.ncbi.nlm.nih.gov/11186887
https://pubmed.ncbi.nlm.nih.gov/11186887
Akademický článek
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