Zappata S[au] - Search Results

Year	Number of Results
1966	1
1993	2
1994	3
1995	2
1996	4
1997	1
1999	2
2022	1
2024	0

1

Telemedicine for outpatient palliative care during COVID-19 pandemics: a longitudinal study.

Caraceni A, Pellegrini C, Shkodra M, Zecca E, Bracchi P, Lo Dico S, Caputo M, Zappata S, Zito E, Brunelli C. Caraceni A, et al. Among authors: zappata s. BMJ Support Palliat Care. 2022 Jun 16:bmjspcare-2022-003585. doi: 10.1136/bmjspcare-2022-003585. Online ahead of print. BMJ Support Palliat Care. 2022. PMID: 35710705 Free PMC article.

2

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.

Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G. Brahe C, et al. Among authors: zappata s. Lancet. 1995 Sep 16;346(8977):741-2. doi: 10.1016/s0140-6736(95)91507-9. Lancet. 1995. PMID: 7658877

3

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis.

Patrizi AL, Tiziano F, Zappata S, Donati MA, Neri G, Brahe C. Patrizi AL, et al. Among authors: zappata s. Eur J Hum Genet. 1999 Apr;7(3):301-9. doi: 10.1038/sj.ejhg.5200286. Eur J Hum Genet. 1999. PMID: 10234506

4

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I.

Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G. Brahe C, et al. Among authors: zappata s. Hum Mol Genet. 1996 Dec;5(12):1971-6. doi: 10.1093/hmg/5.12.1971. Hum Mol Genet. 1996. PMID: 8968751

5

Identification of key recombinants in multiplex SMA families.

van der Steege G, Cobben JM, Brahe C, Osinga J, Zappata S, Scheffer H, Neri G, van Ommen GJ, ten Kate LP, Buys CH. van der Steege G, et al. Among authors: zappata s. Genomics. 1994 Jul 1;22(1):219-22. doi: 10.1006/geno.1994.1367. Genomics. 1994. PMID: 7959774

6

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.

Vitali T, Sossi V, Tiziano F, Zappata S, Giuli A, Paravatou-Petsotas M, Neri G, Brahe C. Vitali T, et al. Among authors: zappata s. Hum Mol Genet. 1999 Dec;8(13):2525-32. doi: 10.1093/hmg/8.13.2525. Hum Mol Genet. 1999. PMID: 10556301

7

Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family.

Zappata S, Tiziano F, Neri G, Brahe C. Zappata S, et al. Hum Genet. 1996 Mar;97(3):315-8. doi: 10.1007/BF02185762. Hum Genet. 1996. PMID: 8786072

8

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.

van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJ, Brahe C, Buys CH. van der Steege G, et al. Among authors: zappata s. Am J Hum Genet. 1996 Oct;59(4):834-8. Am J Hum Genet. 1996. PMID: 8808598 Free PMC article.

9

Presymptomatic diagnosis of SMA III by genotype analysis.

Brahe C, Zappata S, Velonà I, Bertini E, Servidei S, Tonali P, Neri G. Brahe C, et al. Among authors: zappata s. Am J Med Genet. 1993 Feb 1;45(3):408-11. doi: 10.1002/ajmg.1320450331. Am J Med Genet. 1993. PMID: 8434634

10

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.

Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S, Pomponi MG, Mazzei A, Neri G, Andria G, Brahe C. Sebastio G, et al. Among authors: zappata s. Am J Med Genet. 1996 May 17;63(2):366-72. doi: 10.1002/(SICI)1096-8628(19960517)63:2<366::AID-AJMG8>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8725787

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