Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.

Autor: Gabaldon-Albero A; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Pediatric Neurology Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Cordon L; Hematology Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, 20029 Madrid, Spain., Sempere A; Hematology Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, 20029 Madrid, Spain.; Hematology and Hemotherapy Service, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Pedrola L; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Martin-Grau C; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Oltra S; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Monfort S; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Caro-Llopis A; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Dominguez-Martinez M; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Hernandez-Muela S; Pediatric Neurology Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Rosello M; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Orellana C; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Martinez F; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain.

Publikováno v: Genes [Genes (Basel)] 2024 Jun 18; Vol. 15 (6). Date of Electronic Publication: 2024 Jun 18.

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

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

Autor: Rosello M; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain. rosello_mpi@gva.es., Caro-Llopis A; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Orellana C; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Oltra S; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Alemany-Albert M; Neuropediatric Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Marco-Hernandez AV; Neuropediatric Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Monfort S; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Pedrola L; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Martinez F; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Tomás M; Neuropediatric Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

Publikováno v: Pediatric research [Pediatr Res] 2021 Aug; Vol. 90 (2), pp. 284-288. Date of Electronic Publication: 2020 Nov 11.