The role of CDKN2A/B deletions in pediatric acute lymphoblastic leukemia
P Carrasco Salas, L Fernández, M Vela… - Pediatric hematology …, 2016 - Taylor & Francis
The CDKN2A/B genes in the 9p21 chromosomal region are frequently involved in human
cancer, including pediatric acute lymphoblastic leukemia (ALL). These genes encode 3 …
cancer, including pediatric acute lymphoblastic leukemia (ALL). These genes encode 3 …
Predisposición genética al cáncer infantil
P Carrasco Salas, P Lapunzina… - An. pediatr.(2003. Ed …, 2017 - pesquisa.bvsalud.org
… Carrasco Salas, Pilar; Lapunzina, Pablo; Pérez-Martínez, Antonio. … Carrasco Salas,
Pilar; Hospital Universitario La Paz. Instituto de Genética Médica y Molecular (INGEMM) …
Pilar; Hospital Universitario La Paz. Instituto de Genética Médica y Molecular (INGEMM) …
Estudios genéticos en diagnóstico prenatal. Recomendación (2018)
P Carrasco Salas, C Gómez González… - Rev. lab …, 2019 - pesquisa.bvsalud.org
El término diagnóstico prenatal comprende todas las modalidades de diagnóstico dirigidas
a detectar durante la gestación una anomalía congénita que incluya trastornos estructurales …
a detectar durante la gestación una anomalía congénita que incluya trastornos estructurales …
Language and cognitive impairment associated with a novel p. Cys63Arg change in the MED13L transcriptional regulator
S Jiménez-Romero, P Carrasco-Salas… - Molecular …, 2018 - karger.com
Mutations in the MED13L gene, which encodes a subunit of a transcriptional regulatory
complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep …
complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep …
Clinical and molecular characterization of hereditary spastic paraplegia in a spanish southern region
P Carrasco Salas, E Martínez Fernández… - International Journal …, 2022 - Taylor & Francis
Introduction Spastic paraplegia (SPG) is a syndrome characterised by lower limb spasticity,
occurring alone or in association with other neurological manifestations. Despite of the new …
occurring alone or in association with other neurological manifestations. Despite of the new …
Cambios clínicos e inmunológicos inducidos por el tratamiento con inmunoterapia específica en pacientes alérgicos a polen de gramíneas y/o olivo
P Carrasco Salas - 2015 - helvia.uco.es
… Carrasco Salas P, Urra Ardanaz JM, De la Roca F, Feo Brito F, Guerra F. … perenne se
nombran como Lol p 1, y los alérgenos del grupo 5 de Phleum protense se conocen como Phl p 5. …
nombran como Lol p 1, y los alérgenos del grupo 5 de Phleum protense se conocen como Phl p 5. …
Noonan syndrome: Severe phenotype and PTPN11 mutations
PC Salas, G Gómez-Molina, P Carreto-Alba… - … Clínica (English Edition), 2019 - Elsevier
… These mutations have been reported previously, and when they were germinal variants,
patients presented classic NS, NS with other malignancies and recently, p.Gly503Arg has been …
patients presented classic NS, NS with other malignancies and recently, p.Gly503Arg has been …
[HTML][HTML] Contingent prenatal screening for frequent aneuploidies with cell-free fetal DNA analysis
MRT Aguilar, PC Salas, CS Rosa, GB Rodríguez… - Taiwanese Journal of …, 2021 - Elsevier
Objective To analyze the results of contingent screening for common aneuploidies at our
center from June 2017 to June 2019. Materials and methods Traditional screening tests were …
center from June 2017 to June 2019. Materials and methods Traditional screening tests were …
Particularidades genéticas y bioquímicas de la hipercolesterolemia familiar en el suroeste de la Península Ibérica
JR Garrido, PC Salas, CT Pérez, TA Velilla… - Clínica e Investigación …, 2021 - Elsevier
Hasta el momento, la mayor parte de los casos de hipercolesterolemia familiar (60-80%) se
atribuyen a variantes patogénicas en el gen LDLR. Solo un 1-5% de los casos se produce …
atribuyen a variantes patogénicas en el gen LDLR. Solo un 1-5% de los casos se produce …
Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy
PC Salas, CP Milla, JL Montiel, C Benito… - … Clínica (English Edition), 2016 - Elsevier
… Please cite this article as: Carrasco Salas P, Palma Milla C, López Montiel J, Benito C,
Franco Freire S, López Siles J. Neuropatía óptica de Leber: utilidad de la secuenciación masiva …
Franco Freire S, López Siles J. Neuropatía óptica de Leber: utilidad de la secuenciación masiva …