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Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing

Autor: Rosello M, Caro-Llopis A, Orellana C, Oltra S, Alemany-Albert M, Marco-Hernandez AV, Monfort S, Pedrola L, Martinez F, Tomás M

Publikováno v: PEDIATRIC RESEARCH
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent research studies focused on genetic diagnosis in patients with CP of unknown etiology. The present study was carried out in 20 f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::774c8d9ae32dbc789982a8cf11e389bd
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13063

Whole blood gene expression reveals specific transcriptome changes in neonatal encephalopathy

Autor: Montaldo, P, Kaforou, M, Pollara, G, Hervas-Marin, D, Calabria, I, Panadero, J, Pedrola, L, Lally, PJ, Oliveira, V, Kage, A, Atreja, G, Mendoza, J, Soe, A, Pattnayak, S, Shankaran, S, Vento, M, Herberg, J, Thayyil, S

Publikováno v: Neonatology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Background: Variable responses to hypothermic neuroprotection are related to the clinical heterogeneity of encephalopathic babies; hence better disease stratification may facilitate the development of individualized neuroprotective therapies. Objecti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::33fbeb35912522c4a483bc2805d74df6
http://hdl.handle.net/10044/1/62898

Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)

Autor: Martín I, Such E, Navarro B, Vicente A, López-Pavía M, Ibáñez M, Tormo M, Villamón E, Gómez-Seguí I, Luna I, Oltra S, Pedrola L, Sanz MA, Cervera J, Sanz G

Publikováno v: LEUKEMIA & LYMPHOMA
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Leukemia & lymphoma
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
r-FISABIO. Repositorio Institucional de Producción Científica

The incidence of SF3B1 mutations in patients with RARS is high. Recently, it has been shown that SF3B1 and DNMT3A mutations overlap more often than expected, although it is not clear how this could affect the disease. We studied SF3B1 and DNMT3A in 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1367a0c875d48ab43a073d3127e0d953
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1748

El nuevo reto en oncologia: la secuenciacion NGS y su aplicacion a la medicina de precision

Autor: Calabria I, Pedrola L, Berlanga P, Aparisi MJ, Sánchez-Izquierdo D, Cañete A, Cervera J, Millán JM, Castel V

Publikováno v: ANALES DE PEDIATRIA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Precision Medicine is an emerging approach for the diagnosis, treatment and prognosis of genetic diseases that enables clinicians to more accurately predict which treatment strategy will be optimal in a patient. The aim of Precision Medicine in Oncol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::5fa9914dfc6b8dc50162915f66ea8717
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3049