Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families

Autor: Hernández V, Pascual-Camps I, Aparisi MJ, Martínez-Matilla M, Martínez F, Cerón JA, Pedrola L

Publikováno v: OPHTHALMIC GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Background : Nance-Horan syndrome (NHS) is an X-linked rare congenital disorder caused by mutations in the NHS gene. Clinical manifestations include congenital cataracts, facial and dental dysmorphism and, in some cases, intellectual disability. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::3927171f8501f59979f004a5fe9a7ec7
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=11700

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

Autor: Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM

Publikováno v: ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Background: Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous. To date, 10 genes have been asso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::06e2569e32f73f6dabc7770cdfca89b8
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1429

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome

Autor: Aller E, Jaijo T, García-García G, Aparisi MJ, Blesa D, Díaz-Llopis M, Ayuso C, Millán JM

Publikováno v: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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PCDH15, encoding protocadherin 15, is mutated in Usher syndrome type 1F (USH1F) patients. Not only point mutations, but also large deletions have been detected within this gene. However, the detection and characterization of gross deletions in the US

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::03fc15043ed7c482daedb0ad62e753c3
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2970

Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.

Autor: Nieto-Barcelo JJ; Hospital Universitari i Politecnic La Fe, Valencia, Spain., Gonzalez Montes N; Pediatrics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Gonzalo Alonso I; Pediatrics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Martinez F; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Aparisi MJ; Genomics Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Martinez-Matilla M; Genomics Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Marco Hernandez AV; Genomics Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Tomás Vila M; Neuropediatrics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2021 Feb 19; Vol. 12 (2), pp. 159-162. Date of Electronic Publication: 2021 Feb 19 (Print Publication: 2023).

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

Autor: Moreau-Le Lan S; Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Aller E; Genetics Unit, La Fe University Hospital, Valencia, Spain.; Research Group on Molecular, Cellular and Genomic Biomedicine, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Biomedical Network Research Center for Rare Diseases (CIBERER), Madrid, Spain., Calabria I; Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Gonzalez-Tarancon L; Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Cardona-Gay C; Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Martinez-Matilla M; Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Aparisi MJ; Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Selles J; Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Sagath L; The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland., Pitarch I; Unit of Rare Neuromuscular Diseases, La Fe University Hospital, Valencia, Spain., Muelas N; Biomedical Network Research Center in Oncology (CIBERONC), Madrid, Spain.; Neuromuscular Diseases Unit, Neurology Department, La Fe University Hospital, Valencia, Spain, and Neuromuscular & Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain., Cervera JV; Genetics Unit, La Fe University Hospital, Valencia, Spain.; Biomedical Network Research Center in Oncology (CIBERONC), Madrid, Spain., Millan JM; Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.; Research Group on Molecular, Cellular and Genomic Biomedicine, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Biomedical Network Research Center for Rare Diseases (CIBERER), Madrid, Spain., Pedrola L; Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.

Publikováno v: PloS one [PLoS One] 2018 Dec 05; Vol. 13 (12), pp. e0207296. Date of Electronic Publication: 2018 Dec 05 (Print Publication: 2018).