Botta A - Search Results

1

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.

Botta A, Visconti VV, Fontana L, Bisceglia P, Bengala M, Massa R, Bagni I, Cardani R, Sangiuolo F, Meola G, Antonini G, Petrucci A, Pegoraro E, D'Apice MR, Novelli G. Botta A, et al. Front Genet. 2021 Jun 21;12:668094. doi: 10.3389/fgene.2021.668094. eCollection 2021. Front Genet. 2021. PMID: 34234810 Free PMC article.

2

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. Among authors: botta a. Int J Clin Lab Res. 1995;25(3):142-5. doi: 10.1007/BF02592555. Int J Clin Lab Res. 1995. PMID: 8562976

3

Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene.

Botta A, Jurecic V, Pizzuti A, Novelli G, Dallapiccola B, Baldini A. Botta A, et al. Cytogenet Cell Genet. 1997;77(3-4):264-5. doi: 10.1159/000134592. Cytogenet Cell Genet. 1997. PMID: 9284932 No abstract available.

4

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. Among authors: botta a. 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

5

Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.

Botta A, Sangiuolo F, Calza L, Giardino L, Potenza S, Novelli G, Dallapiccola B. Botta A, et al. Genomics. 1999 Dec 15;62(3):525-8. doi: 10.1006/geno.1999.5987. Genomics. 1999. PMID: 10644452

6

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.

Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B. Botta A, et al. J Med Genet. 1999 Jun;36(6):478-80. J Med Genet. 1999. PMID: 10874638 Free PMC article.

7

Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster.

Ratti A, Amati F, Bozzali M, Conti E, Sangiuolo F, Berloco M, Palumbo G, Botta A, Pizzuti A, Novelli G, Dallapiccola B. Ratti A, et al. Among authors: botta a. Cytogenet Cell Genet. 2001;92(3-4):279-82. doi: 10.1159/000056916. Cytogenet Cell Genet. 2001. PMID: 11435701

8

Association study of a promoter polymorphism of UFD1L gene with schizophrenia.

De Luca A, Pasini A, Amati F, Botta A, Spalletta G, Alimenti S, Caccamo F, Conti E, Trakalo J, Macciardi F, Dallapiccola B, Novelli G. De Luca A, et al. Among authors: botta a. Am J Med Genet. 2001 Aug 8;105(6):529-33. doi: 10.1002/ajmg.1489. Am J Med Genet. 2001. PMID: 11496370

9

Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L).

Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G. Botta A, et al. Gene. 2001 Sep 5;275(1):39-46. doi: 10.1016/s0378-1119(01)00649-7. Gene. 2001. PMID: 11574150

10

Causes of the phenotype-genotype dissociation in DiGeorge syndrome: clues from mouse models.

Botta A, Amati F, Novelli G. Botta A, et al. Trends Genet. 2001 Oct;17(10):551-4. doi: 10.1016/s0168-9525(01)02438-6. Trends Genet. 2001. PMID: 11585644 No abstract available.

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