Výsledky vyhledávání

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

Autor: M, Stemerdink, B, García-Bohórquez, R, Schellens, G, Garcia-Garcia, E, Van Wijk, J M, Millan

Publikováno v: Human genetics. 141(3-4)

Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a combination of sensorineural hearing loss and a progressive loss of vision resulting from retinitis pigmentosa (RP), occasionally accompanied by an altered vestib

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::542ed4cebf1558ce15e5272255b599e9
https://pubmed.ncbi.nlm.nih.gov/34331125

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Management and return of incidental genomic findings in clinical trials

Autor: Rafael Dal-Ré, Carmen Ayuso, J M Millan

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

Whole-genome/exome sequencing used in clinical trials (CTs) to identify 'druggable' mutations and targets uncovers incidental findings unrelated to the trial objectives but of value for participants, although ethically challenging. To be disclosed to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::678f6bd45dda9e664c89f450d3a5d71a
https://doi.org/10.1038/tpj.2014.62

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Insights Into the Role of microRNAs in Cardiac Diseases: From Biological Signalling to Therapeutic Targets

Autor: Francisco Marín, Miguel A. Arnau, Antonio Salvador, J. M. Millan, Joaquín Osca, Francisco España, Esther Zorio, M. Beneyto, Joaquín Rueda, Juan R. Gimeno, Amparo Estellés, Pilar Medina

Publikováno v: Cardiovascular & Hematological Agents in Medicinal Chemistry. 7:82-90

microRNAs have recently opened new pathways to explain gene expression and disease biology in many scenarios, including cardiac diseases. microRNAs are endogenous small non-coding RNAs that mediate post-transcriptional repression or messenger RNA deg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67b4cda0f68fb4c27909f826c84553e
https://doi.org/10.2174/187152509787047676

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Molecular Genetic Analysis of HLA-DR and -DQ Alleles in Spanish Patients with Melanoma

Autor: M. D. Planelles, E. Ledesma, Eduardo Nagore, Amelia Insa, V. Oliver, J. M. Millan, José M. Fortea, Carlos Guillén

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

Controversial data have been reported about HLA alleles and susceptibility to melanoma. The relationship between distribution of HLA alleles in patients with melanoma and susceptibility to tumour was analysed, to study the possible correlation betwee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d563a2e0d770397d4e52bcacc3c00cf8
https://doi.org/10.1080/00015550252948095

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Endocrinological aspects of cancer; about your diagnosis and treatment

Autor: P M, BARLARO, A C, BARANAO, J M, MILLAN

Publikováno v: La Semana medica. 54(9)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5e5dfd3316d7cfb99c88ff629e96d2e9
https://pubmed.ncbi.nlm.nih.gov/20239612

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Public health risks of the flesh of farmed crocodiles

Autor: J M, Millan, J L, Purdie, L F, Melville

Publikováno v: Revue scientifique et technique (International Office of Epizootics). 16(2)

The farming of crocodiles in the Northern Territory of Australia is a rapidly growing industry. The saltwater crocodile produces a premium quality skin which is sought world-wide for the lucrative leather trade and manufacture of finished articles. F

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::63aaeec45061621d30a222d228a29d1e
https://pubmed.ncbi.nlm.nih.gov/9501375

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Suprasellar papillary squamous craniopharyngioma. A case report

Autor: M, Lopez-Carreira, P, Dominguez-Franjo, S, Madero, T, Zamora, J M, Millan, A, Cabrera

Publikováno v: Journal of neurosurgical sciences. 41(2)

Papillary squamous craniopharyngioma is an unusual variant of craniopharyngioma that presents almost exclusively in adults. We report a case of a 51-year-old man, who presented with visual and mental symptoms. A CT scan showed a suprasellar and intra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0bed16027accd5b10b3062f72651afda
https://pubmed.ncbi.nlm.nih.gov/9385568

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Study of a trimeric tandem repeat locus (SBMA) in the Basque population: comparison with other populations

Autor: M I, Arrieta, B, Martinez, J M, Millan, A, Gil, E, Monros, T, Nuñez, M, Telez, F, Martinez

Publikováno v: Gene geography : a computerized bulletin on human gene frequencies. 11(1)

Microsatellites can be highly unstable and show a high level of polymorphism between individuals. Here we present the analysis of the CAG trinucleotide repeat polymorphism at the SBMA locus in 57 phenotypically normal individuals rigorously assigned

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0e0158713e0c52de17a987ab6cce5553
https://pubmed.ncbi.nlm.nih.gov/9615216

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