Saad FA - Search Results

1

A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron.

Galvagni F, Saad FA, Danieli GA, Miorin M, Vitiello L, Mostacciuolo ML, Angelini C. Galvagni F, et al. Among authors: saad fa. Hum Genet. 1994 Jul;94(1):83-7. doi: 10.1007/BF02272848. Hum Genet. 1994. PMID: 8034300

2

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.

Saad FA, Vitiello L, Merlini L, Mostacciuolo ML, Oliviero S, Danieli GA. Saad FA, et al. Hum Mol Genet. 1992 Aug;1(5):345-6. doi: 10.1093/hmg/1.5.345. Hum Mol Genet. 1992. PMID: 1303213 No abstract available.

3

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

Schiavon F, Mostacciuolo ML, Saad F, Merlini L, Siciliano G, Angelini C, Danieli GA. Schiavon F, et al. J Med Genet. 1994 Nov;31(11):880-3. doi: 10.1136/jmg.31.11.880. J Med Genet. 1994. PMID: 7853375 Free PMC article.

4

Single base substitutions are detected by double strand conformation analysis.

Saad FA, Halliger B, Müller CR, Roberts RG, Danieli GA. Saad FA, et al. Nucleic Acids Res. 1994 Oct 11;22(20):4352-3. doi: 10.1093/nar/22.20.4352. Nucleic Acids Res. 1994. PMID: 7937168 Free PMC article.

5

DXS997 localized to intron 48 of dystrophin.

Saad FA, Busque C, Vitiello L, Danieli GA. Saad FA, et al. Hum Mol Genet. 1994 Jun;3(6):1034. doi: 10.1093/hmg/3.6.1033. Hum Mol Genet. 1994. PMID: 7951226 No abstract available.

6

A possible missense mutation detected in the dystrophin gene by Double-Strand Conformation Analysis (DSCA).

Saad FA, Vita G, Toffolatti L, Danieli GA. Saad FA, et al. Neuromuscul Disord. 1994 Jul;4(4):335-41. doi: 10.1016/0960-8966(94)90069-8. Neuromuscul Disord. 1994. PMID: 7981590

7

Prevalent cardiac involvement in dystrophin Becker type mutation.

Siciliano G, Fanin M, Angelini C, Pollina LE, Miorin M, Saad FA, Freda MP, Muratorio A. Siciliano G, et al. Among authors: saad fa. Neuromuscul Disord. 1994 Jul;4(4):381-6. doi: 10.1016/0960-8966(94)90074-4. Neuromuscul Disord. 1994. PMID: 7981595

8

DXS997 localized to intron 48 of dystrophin.

Saad FA, Busque C, Vitiello L, Danieli GA. Saad FA, et al. Hum Mol Genet. 1993 Dec;2(12):2199. doi: 10.1093/hmg/2.12.2199. Hum Mol Genet. 1993. PMID: 8111398 No abstract available.

9

Detection of unknown gene mutations by multiplex single-strand conformation polymorphism (MSSCP).

Saad FA, Vitiello L, Oliviero S, Mostacciuolo ML, Danieli GA. Saad FA, et al. PCR Methods Appl. 1993 Aug;3(1):60-2. doi: 10.1101/gr.3.1.60. PCR Methods Appl. 1993. PMID: 8220186 Free article. No abstract available.

10

Reappraisal of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis.

Mostacciuolo ML, Miorin M, Pegoraro E, Fanin M, Schiavon F, Vitiello L, Saad FA, Angelini C, Danieli GA. Mostacciuolo ML, et al. Among authors: saad fa. Neuroepidemiology. 1993;12(6):326-30. doi: 10.1159/000110334. Neuroepidemiology. 1993. PMID: 8309507

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