Sangiuolo F - Search Results

1

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

Ferradini V, Cassone M, Nuovo S, Bagni I, D'Apice MR, Botta A, Novelli G, Sangiuolo F. Ferradini V, et al. Among authors: sangiuolo f. Clin Chim Acta. 2017 Jul;470:1-7. doi: 10.1016/j.cca.2017.04.012. Epub 2017 Apr 17. Clin Chim Acta. 2017. PMID: 28427807

2

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. Among authors: sangiuolo f. Cell Biochem Funct. 1992 Dec;10(4):251-6. doi: 10.1002/cbf.290100407. Cell Biochem Funct. 1992. PMID: 1473264

3

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. Genomics. 1991 Apr;9(4):788-9. doi: 10.1016/0888-7543(91)90380-w. Genomics. 1991. PMID: 1903761 No abstract available.

4

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillon M, Sangiuolo F, Novelli G, et al. Gasparini P, et al. Among authors: sangiuolo f. Genomics. 1991 May;10(1):193-200. doi: 10.1016/0888-7543(91)90500-e. Genomics. 1991. PMID: 2045102

5

Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.

Sangiuolo F, Lo Cicero S, Maceratesi P, Quattrucci S, Novelli G, Dallapiccola B. Sangiuolo F, et al. Hum Mutat. 1993;2(5):422-4. doi: 10.1002/humu.1380020517. Hum Mutat. 1993. PMID: 7504970 No abstract available.

6

A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay.

Sangiuolo F, De Santis L, Cavicchini A, Angeloni U, Romanini C, Novelli G, Dallapiccola B. Sangiuolo F, et al. Int J Clin Lab Res. 1994;24(4):223-6. doi: 10.1007/BF02592468. Int J Clin Lab Res. 1994. PMID: 7894049

7

Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene.

Novelli G, Gennarelli M, Sangiuolo F, D'Agruma L, Lo Cicero S, Melchionda S, Dallapiccola B. Novelli G, et al. Among authors: sangiuolo f. Cell Biochem Funct. 1993 Sep;11(3):187-91. doi: 10.1002/cbf.290110306. Cell Biochem Funct. 1993. PMID: 8403232

8

Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay.

Sangiuolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B. Sangiuolo F, et al. Int J Clin Lab Res. 1995;25(3):142-5. doi: 10.1007/BF02592555. Int J Clin Lab Res. 1995. PMID: 8562976

9

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

Maceratesi P, Sangiuolo F, Novelli G, Ninfali P, Magnani M, Reichardt JK, Dallapiccola B. Maceratesi P, et al. Among authors: sangiuolo f. Hum Mutat. 1996;8(4):369-72. doi: 10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.0.CO;2-0. Hum Mutat. 1996. PMID: 8956044 No abstract available.

10

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B. Sangiuolo F, et al. Hum Mutat. 1998;11(4):331. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215406

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