Zobrazeno 1 - 10 of 35 pro vyhledávání: '"C. Amiñoso"'
1
Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations
Autor: Nadia Leban, Jemni Ben Chibani, E. Fariza-Requejo, C. Abarrategui-Garrido, Sheila Pinto, C. Amiñoso-Carbonero, Amel Haj Khelil, P. Sánchez-Corral
Publikováno v: International Journal of Immunogenetics. 39:110-113
Summary Several polymorphisms in the complement components factor H and CFHR1 are associated with higher risk to develop atypical Haemolytic Uraemic Syndrome (aHUS) in Caucasians. We have determined the prevalence of these polymorphisms in Tunisian c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5f7bca8f0c3d23c8b9039f3e97e84b6
https://doi.org/10.1111/j.1744-313x.2011.01071.x
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2
MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation
Autor: I López Pajares, C. Amiñoso, Pablo Lapunzina, Alicia Delicado, J Arcas, A Martínez Bermejo, Luis Morís Fernández, María Palomares, D Arjona
Publikováno v: Clinical Genetics. 69:228-233
Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::73cf2ffe14477fc93a430908bb9cceea
https://doi.org/10.1111/j.1399-0004.2006.00567.x
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3
Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations
Autor: N, Leban, C, Abarrategui-Garrido, E, Fariza-Requejo, C, Amiñoso-Carbonero, S, Pinto, J B, Chibani, A H, Khelil, P, Sánchez-Corral
Publikováno v: International journal of immunogenetics. 39(2)
Several polymorphisms in the complement components factor H and CFHR1 are associated with higher risk to develop atypical Haemolytic Uraemic Syndrome (aHUS) in Caucasians. We have determined the prevalence of these polymorphisms in Tunisian controls
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::74180a5f1f6263538b8618cc84e0f897
https://pubmed.ncbi.nlm.nih.gov/22136554
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5
MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation
Autor: M, Palomares, A, Delicado, P, Lapunzina, D, Arjona, C, Amiñoso, J, Arcas, A, Martinez Bermejo, L, Fernández, I, López Pajares
Publikováno v: Clinical genetics. 69(3)
Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b6b26a5a0fa43967565261c604e1bbd9
https://pubmed.ncbi.nlm.nih.gov/16542387
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6
Akademický článek
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8
Aberrant methylation of multiple genes in neuroblastic tumours. relationship with MYCN amplification and allelic status at 1p
Autor: P, Gonzalez-Gomez, M J, Bello, J, Lomas, D, Arjona, M E, Alonso, C, Amiñoso, I, Lopez-Marin, N P, Anselmo, J L, Sarasa, M, Gutierrez, C, Casartelli, J A, Rey
Publikováno v: European journal of cancer (Oxford, England : 1990). 39(10)
Aberrant hypermethylation occurs in tumour cell CpG islands and is an important pathway for the repression of gene transcription in cancers. We investigated aberrant hypermethylation of 11 genes by methylation-specific polymerase chain reaction (PCR)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cb000e703aa9977ca3f7657e1e966588
https://pubmed.ncbi.nlm.nih.gov/12826052
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9
Akademický článek
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10
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