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Titolo Data di pubblicazione Autore(i) File
Correlation between transfusion requirement, blood volume and haemoglobin level in homozygous beta-thalassaemia. 1-gen-1980 V., Gabutti; A., Piga; Fortina, Paolo; R., Miniero; P., Nicola
A large deletion encompassing the entire alpha-like globin gene cluster in a family of northern European extraction. 1-gen-1988 Fortina, Paolo; K., Delgrosso; E., Rappaport; M., Poncz; S. K., Ballas; E., Schwartz; S., Surrey
RFLPs of the phenylalanine hydroxylase gene in the Italian population. 1-gen-1989 I., Dianzani; L., Farinasso; Fortina, Paolo; C., Camaschella; R., Ponzone; H. H., Dahl; R. G., Cotton; A., Ponzone
Large deletions encompassing the entire alpha- and beta-like globin gene clusters in humans. 1-gen-1989 Fortina, Paolo; K., Delgrosso; E., Rappaport; E., Werner; S., Ballas; E., Schwartz; S., Surrey
A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family. 1-gen-1991 Fortina, Paolo; I., Dianzani; A., Serra; E., Gottardi; G., Saglio; L., Farinasso; A., Piga; V., Gabutti; C., Camaschella
A greater than 200 kb deletion removing the entire beta-like globin gene cluster in a family of Irish descent. 1-gen-1991 Fortina, Paolo; K., Delgrosso; E., Werner; K., Haines; E., Rappaport; E., Schwartz; S., Surrey
Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex allele-specific polymerase chain reaction. 1-gen-1992 Fortina, Paolo; R., Conant; G., Monokian; G., Dotti; T., Parrella; W., Hitchcock; J., Kant; T., Scanlin; E., Rappaport; E., Schwartz
Fluorescence-based, multiplex allele-specific PCR (MASPCR) detection of the delta F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 1-gen-1992 Fortina, Paolo; R., Conant; T., Parrella; E., Rappaport; T., Scanlin; E., Schwartz; J. M., Robertson; S., Surrey
Detection of the most common mutations causing beta-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS). 1-gen-1992 Fortina, Paolo; G., Dotti; R., Conant; G., Monokian; T., Parrella; W., Hitchcock; E., Rappaport; E., Schwartz; S., Surrey
Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. 1-gen-1993 Elaine S., Mansfield; James M., Robertson; Roger V., Lebo; Micheal Y., Lucero; P., Eric Mayrand; Eric, Rappaport; Teresa, Parrella; Maria, Sartore; Saul, Surrey; Fortina, Paolo
Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status. 1-gen-1993 E. S., Mansfield; A., Blasband; M. N., Kronick; L., Wrabetz; P., Kaplan; E., Rappaport; M., Sartore; T., Parrella; S., Surrey; Fortina, Paolo
Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels. 1-gen-1994 A., Iolascon; T., Parrella; S., Perrotta; O., Guardamagna; P. M., Coates; M., Sartore; S., Surrey; Fortina, Paolo
Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia. 1-gen-1994 Fortina, Paolo; T., Parrella; M., Sartore; E., Gottardi; V., Gabutti; K., Delgrosso; E., Mansfield; E., Rappaport; E., Schwartz; C., Camaschella
Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies. 1-gen-1994 N. B., Spinner; E. B., Rand; Fortina, Paolo; A., Genin; R., Taub; A., Semeraro; D. A., Piccoli
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. 1-gen-1994 M., Poncz; S., Rifat; B. S., Coller; P. J., Newman; S. J., Shattil; T., Parrella; Fortina, Paolo; J. S., Bennett
Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: clinical observations and genetic analysis. 1-gen-1995 Megumi, Kobayashi; Bernard S., Kaplan; Richard D., Bellah; Maria, Sartore; Eric, Rappaport; Mark W., Steele; Elaine, Mansfield; Paolo, Gasparini; Saul, Surrey; Fortina, Paolo
Nucleic acid detection using non-radioactive labelling methods. 1-gen-1995 Elaine S., Mansfield; Jennifer M., Worley; Steven E., Mckenzie; Saul, Surrey; Eric, Rappaport; Fortina, Paolo
Fluorescence-based DNA minisequence analysis for detection of known single-base changes in genomic DNA. 1-gen-1995 Megumi, Kobayashi; Eric, Rappaport; Andy, Blasband; Antonio, Semeraro; Maria, Sartore; Saul, Surrey; Fortina, Paolo
Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction. 1-gen-1995 E., Arbustini; M., Grasso; R., Fasani; C., Klersy; M., Diegoli; E., Porcu; N., Banchieri; Fortina, Paolo; C., Danesino; G., Specchia
Sensitivity, reproducibility, and accuracy in short tandem repeat genotyping using capillary array electrophoresis. 1-gen-1996 E. S., Mansfield; M., Vainer; S., Enad; D. L., Barker; D., Harris; E., Rappaport; Fortina, Paolo
Mostrati risultati da 1 a 20 di 205
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