Zobrazeno 1 - 10
of 290
pro vyhledávání: '"F, Ajmar"'
Autor:
P, Mandich, G, Jacopini, E, Di Maria, G, Sabbadini, G, Abbruzzese, F, Chimirri, E, Bellone, A, Novelletto, F, Ajmar, M, Frontali
Publikováno v:
Italian journal of neurological sciences. 19(2)
Pre-symptomatic testing for Huntington’ s disease (HD) has been available as a clinical service in the medical centres of Rome and Genoa since December 1987, initially by DNA-linkage and since mid-1993 by direct mutation analysis. A multidisciplina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1416b345f33cc6746cf88994f5539937
https://pubmed.ncbi.nlm.nih.gov/10935839
https://pubmed.ncbi.nlm.nih.gov/10935839
Autor:
P, Mandich, G L, Mancardi, A, Varese, S, Soriani, E, Di Maria, E, Bellone, M, Bado, L, Gross, A J, Windebank, F, Ajmar, A, Schenone
Publikováno v:
Annals of neurology. 45(5)
Congenital hypomyelination (CH) is a hereditary demyelinating peripheral neuropathy characterized by early infancy onset, distal muscle weakness, hypotonia, areflexia, and severe slowing of nerve conduction velocities. In the present report, the clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8999fecdeb9b82ca3d73a9397467888d
https://pubmed.ncbi.nlm.nih.gov/10319895
https://pubmed.ncbi.nlm.nih.gov/10319895
Publikováno v:
Contributions to nephrology. 122
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b548c7b8034769d490c6d1564edd403c
https://pubmed.ncbi.nlm.nih.gov/9399050
https://pubmed.ncbi.nlm.nih.gov/9399050
Publikováno v:
Human mutation. 7(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::82f9044eb77ff8b92e414d70ca48073c
https://pubmed.ncbi.nlm.nih.gov/8723697
https://pubmed.ncbi.nlm.nih.gov/8723697
Publikováno v:
Bollettino della Societa italiana di biologia sperimentale. 67(10-11)
A prenatal diagnosis of adult polycystic kidney disease (ADPKD) by DNA testing is reported. Evidence showing a linkage between the disease and the DNA markers on chromosome 16 was obtained in the family by linkage analysis and homogeneity testing wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::43a0a289377f5a6badbcb3d029c501e4
https://pubmed.ncbi.nlm.nih.gov/1821132
https://pubmed.ncbi.nlm.nih.gov/1821132
Publikováno v:
Bollettino della Societa italiana di biologia sperimentale. 67(10-11)
This paper describes a rapid method for VNTRs (variable number of tandem repeats) typing using polymerase chain reaction (PCR). Three VNTRs (YNZ22, Apo B, MCT118) were amplified and alleles mendelian segregation was confirmed. We also demonstrate the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b7c8bedc42083d1a3f22d47a2bb94d0c
https://pubmed.ncbi.nlm.nih.gov/1687950
https://pubmed.ncbi.nlm.nih.gov/1687950
Publikováno v:
Leukemia. 4(10)
Twenty-five patients who received bone marrow transplantation (BMT) for chronic granulocytic leukemia (CGL), acute leukemia and severe aplastic anemia were studied before and after BMT in order to document and characterize the events following transp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5823e3960ce8399d83c38ad889274756
https://pubmed.ncbi.nlm.nih.gov/2214874
https://pubmed.ncbi.nlm.nih.gov/2214874
Publikováno v:
Bollettino della Societa italiana di biologia sperimentale. 66(5)
Enzymatic DNA amplification has become a new important tool in the analysis of human genome. We report the use of this new technique for the detection of a polymorphic DNA sequence adjacent to the Huntington's disease locus for presymptomatic and pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::13a8e75db74666e471691e0aa39721a4
https://pubmed.ncbi.nlm.nih.gov/2144430
https://pubmed.ncbi.nlm.nih.gov/2144430
Autor:
P, Mandich, G, Restagno, G, Novelli, E, Bellone, L, Potenza, O, Varetto, B, Dallapiccola, A, Carbonara, F, Ajmar
Publikováno v:
American journal of medical genetics. 35(4)
A survey of 29 families with Adult Polycystic Kidney Disease (ADPKD) was performed to evaluate the genetic heterogeneity of the disease in Italy. The approach was through the linkage between the disease and 2 polymorphic DNA fragments as detected by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d31e36e4dfa766f2d0bb038e6f89db6b
https://pubmed.ncbi.nlm.nih.gov/2333889
https://pubmed.ncbi.nlm.nih.gov/2333889
Autor:
P. Mandich, G. Jacopini, E. Di Maria, G. Sabbadini, G. Abbruzzese, F. Chimirri, E. Bellone, A. Novelletto, F. Ajmar, M. Frontali
Publikováno v:
The Italian Journal of Neurological Sciences. 19:149-149
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::471351def6fa19234d176b12ca0ef36b
https://doi.org/10.1007/bf00831564
https://doi.org/10.1007/bf00831564