Novelli G - Search Results

1

Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.

Novelli G, Sangiuolo F, Dallapiccola B, Gasparini P, Savoia A, Pignatti PF, Fernandez E, Benitez J, Casals T, Nunes V, et al. Novelli G, et al. Prenat Diagn. 1990 Jun;10(6):413-4. doi: 10.1002/pd.1970100609. Prenat Diagn. 1990. PMID: 2217081 No abstract available.

2

A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.

Nunes V, Bonizzato A, Gaona A, Dognini M, Chillón M, Casals T, Pignatti PF, Novelli G, Estivill X, Gasparini P. Nunes V, et al. Among authors: novelli g. Am J Hum Genet. 1992 May;50(5):1140-2. Am J Hum Genet. 1992. PMID: 1373935 Free PMC article. No abstract available.

3

Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle.

Novelli G, Gennarelli M, Zelano G, Sangiuolo F, Lo Cicero S, Samson F, Dallapiccola B. Novelli G, et al. Cell Biochem Funct. 1992 Dec;10(4):251-6. doi: 10.1002/cbf.290100407. Cell Biochem Funct. 1992. PMID: 1473264

4

[The correlation between the genotype and the clinical expression of cystic fibrosis].

Lucidi V, Novelli G, Castro M, Sangiuolo F, Papadatou B, Ferretti F, Orrù M, Dallapiccola B. Lucidi V, et al. Among authors: novelli g. Pediatr Med Chir. 1992 Sep-Oct;14(5):513-5. Pediatr Med Chir. 1992. PMID: 1488308 Italian.

5

The cystic fibrosis delta F508 mutation in the Albanian population.

Novelli G, Sangiuolo F, Mokini V, Cikuli M, Piazza A, Dallapiccola B. Novelli G, et al. Am J Hum Genet. 1992 Apr;50(4):875-6. Am J Hum Genet. 1992. PMID: 1550133 Free PMC article. No abstract available.

6

Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction.

Novelli G, Gennarelli M, Rocchi M, Dallapiccola B. Novelli G, et al. Hum Genet. 1992 Mar;88(6):697-8. doi: 10.1007/BF02265301. Hum Genet. 1992. PMID: 1551677 No abstract available.

7

3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.

Gennarelli M, Novelli G, Cobo A, Baiget M, Dallapiccola B. Gennarelli M, et al. Among authors: novelli g. Hum Genet. 1991 Oct;87(6):654-6. doi: 10.1007/BF00201719. Hum Genet. 1991. PMID: 1682233

8

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis.

Sangiuolo F, Novelli G, Murru S, Dallapiccola B. Sangiuolo F, et al. Among authors: novelli g. Genomics. 1991 Apr;9(4):788-9. doi: 10.1016/0888-7543(91)90380-w. Genomics. 1991. PMID: 1903761 No abstract available.

9

Analysis of 14 cystic fibrosis mutations in five south European populations.

Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Giménez FJ, Dognini M, Ravnik-Glavac M, et al. Nunes V, et al. Among authors: novelli g. Hum Genet. 1991 Oct;87(6):737-8. doi: 10.1007/BF00201737. Hum Genet. 1991. PMID: 1937479

10

Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms.

Gasparini P, Mandich P, Novelli G, Bellone E, Sangiuolo F, De Stefano F, Potenza L, Trabetti E, Marigo M, Pignatti PF, et al. Gasparini P, et al. Among authors: novelli g. Hum Hered. 1991;41(3):174-81. doi: 10.1159/000153997. Hum Hered. 1991. PMID: 1937491

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