Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Anna M. Cueto‐González"'
Autor:
Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measu
Externí odkaz:
https://doaj.org/article/5fd90d6790484b2b99c860828ddbffb2
Autor:
Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
Publikováno v:
Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)
Resumen: Fundamento y objetivo: La citogenética convencional detecta un 3-5% de los pacientes con retraso global del desarrollo/discapacidad intelectual y/o malformaciones congénitas. La amplificación de sondas múltiples dependientes de ligación
Externí odkaz:
https://doaj.org/article/96b2da0718b8405fb1788e89fcee444a
Autor:
Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
Publikováno v:
Anales de Pediatría (English Edition), Vol 89, Iss 1, Pp 3-11 (2018)
Background and objective: Conventional cytogenetics diagnoses 3–5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnos
Externí odkaz:
https://doaj.org/article/9f076a269c284212af374c79ff0580c0
Autor:
Francisca Díaz‐González, Manuel Parrón‐Pajares, Elsa Lucas‐Castro, Silvia Modamio‐HØybjØr, Lucia Sentchordi‐Montané, Verónica Seidel, Pablo Prieto, Guillermo Tarraso‐Urios, Marta Codina‐Sola, Anna M. Cueto‐González, Mary J. Ballesta‐Martínez, Fernando Santos‐Simarro, Sergio B. Sousa, Karen E. Heath
Publikováno v:
Clinical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8294128d209711cf75222891ed0662a
https://doi.org/10.1111/cge.14351
https://doi.org/10.1111/cge.14351
Autor:
Celine Grenier, Filipa M. Lopes, Anna M. Cueto-González, Eulàlia Rovira-Moreno, Romy Gander, Benjamin W. Jarvis, Karen D. McCloskey, Alison M. Gurney, Glenda M. Beaman, William G. Newman, Adrian S. Woolf, Neil A. Roberts
Publikováno v:
Kidney International Reports.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e99cac17e249141bcf70ee1b164f9bc
https://doi.org/10.1016/j.ekir.2023.04.017
https://doi.org/10.1016/j.ekir.2023.04.017
Autor:
Celine Grenier, Filipa M. Lopes, Anna M Cueto-González, Eulàlia Rovira-Moreno, Romy Gander, Benjamin W Jarvis, Karen D. McCloskey, Alison M. Gurney, Glenda M. Beaman, William G. Newman, Adrian S. Woolf, Neil A. Roberts
Urinary tract malformations account for half of all children with kidney failure, and some have defined monogenic causes. One such disorder is urofacial, or Ochoa, syndrome (UFS), an autosomal recessive disease featuring a dyssynergic bladder with de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35e49d20332dfbc5e75ea504b3170f62
https://doi.org/10.1101/2022.12.06.22283097
https://doi.org/10.1101/2022.12.06.22283097
Autor:
Millan S. Patel, Halenur Yavuz-Kienle, Alicia P Acyinena, Diane Myles-Reid, Tim Van Mieghem, Anna M. Cueto-González, Causes Study, Susan Blaser, Miereia D T Riera, Silvia A Martínez, Shannon Rego, Walter Patrick Devine, Patrick Shannon, Karen Chong, Heyko Skladny, Sally L. Dunwoodie, Gavin Chapman, Justin O. Szot, Oliver Brandau, Dimitri J. Stavropoulos, Anne Slavotinek, Eduardo F. Tizzano, Alison M. Elliott, Vanda McNiven, Lucie Dupuis, Marjan M. Nezarati, Robert S. Phillips, Kristen Miller, Roberto Mendoza-Londono
Publikováno v:
Human mutation, 42(7), 862-876. Wiley-Liss Inc.
Hum Mutat
Hum Mutat
Nicotinamide adenine dinucleotide (NAD) is an essential cofactor involved in over 400 cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary L-tryptophan via the kynurenine pathway. Biallelic, inactivating variants in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cb52f60e935bbd489940ccdd80426e3
https://doi.org/10.1002/humu.24211
https://doi.org/10.1002/humu.24211
Autor:
María Antolín, Marta Codina-Solà, Teresa Vendrell, Paula Fernández-Álvarez, Ida Paramonov, Elena García-Arumí, Anna M. Cueto-González, Artur Evangelista, Irene Valenzuela, Eduardo F. Tizzano, Gisela Teixido-Tura, Fermina López-Grondona
Publikováno v:
Journal of Medical Genetics. 59:605-612
BackgroundA proportion of de novo variants in patients affected by genetic disorders, particularly those with autosomal dominant (AD) inheritance, could be the consequence of somatic mosaicism in one of the progenitors. There is growing evidence that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06c5233e8057a01e79a1447308644436
https://doi.org/10.1136/jmedgenet-2020-107604
https://doi.org/10.1136/jmedgenet-2020-107604
Autor:
Anna M, Cueto-González, Mónica, Fernández-Cancio, Paula, Fernández-Alvarez, Elena, García-Arumí, Eduardo F, Tizzano
Publikováno v:
Human Genome Variation
Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Patients with MCPH present head circumference values two or three standard deviations (SDs) significantly below the mean for age-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6b8af5b2185253a2dba0db8031bae6a3
https://pubmed.ncbi.nlm.nih.gov/32549991
https://pubmed.ncbi.nlm.nih.gov/32549991
Autor:
Fermina López-Grondona, Anna M. Cueto-González, Alberto Plaja, Neus Castells-Sarret, Mar Borregan, Rosa Miró, Eduardo F. Tizzano
Publikováno v:
Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)
Resumen: Fundamento y objetivo: La citogenética convencional detecta un 3-5% de los pacientes con retraso global del desarrollo/discapacidad intelectual y/o malformaciones congénitas. La amplificación de sondas múltiples dependientes de ligación
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f3ff328602151f3defdf9d1b4fd9ae9
http://www.sciencedirect.com/science/article/pii/S1695403317303065
http://www.sciencedirect.com/science/article/pii/S1695403317303065