Clementi M - Search Results

1

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L. Riva P, et al. Among authors: clementi m. Am J Hum Genet. 2000 Jan;66(1):100-9. doi: 10.1086/302709. Am J Hum Genet. 2000. PMID: 10631140 Free PMC article.

2

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.

Gervasini C, Venturin M, Orzan F, Friso A, Clementi M, Tenconi R, Larizza L, Riva P. Gervasini C, et al. Among authors: clementi m. Genomics. 2005 Feb;85(2):273-9. doi: 10.1016/j.ygeno.2004.10.014. Genomics. 2005. PMID: 15676286

3

Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved.

Mammi I, Iles DE, Smeets D, Clementi M, Tenconi R. Mammi I, et al. Among authors: clementi m. Hum Genet. 1996 Sep;98(3):317-20. doi: 10.1007/s004390050214. Hum Genet. 1996. PMID: 8707301 Free article.

4

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

Minelli A, Floridia G, Rossi E, Clementi M, Tenconi R, Camurri L, Bernardi F, Hoeller H, Previde Re C, Maraschio P, et al. Minelli A, et al. Among authors: clementi m. Hum Genet. 1993 Oct;92(4):391-6. doi: 10.1007/BF01247342. Hum Genet. 1993. PMID: 7901142

5

Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus.

Clementi M, Tenconi R, Forabosco P, Calzolari E, Milan M. Clementi M, et al. Hum Genet. 1997 Aug;100(2):204-9. doi: 10.1007/s004390050491. Hum Genet. 1997. PMID: 9254850

6

Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17.

Clementi M, Murgia A, Anglani F, Tenconi R, Turolla L, Picci L, Zacchello F. Clementi M, et al. Hum Genet. 1991 May;87(1):91-4. doi: 10.1007/BF01213101. Hum Genet. 1991. PMID: 1674720

7

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate.

Clementi M, Barbujani G, Turolla L, Tenconi R. Clementi M, et al. Hum Genet. 1990 Jan;84(2):116-8. doi: 10.1007/BF00208923. Hum Genet. 1990. PMID: 2105266

8

A new disease-causing mutation in the GAP-related domain of the NF1 gene.

Anglani F, Murgia A, Bedin S, Bresin E, Bernardi F, Clementi M, Tenconi R. Anglani F, et al. Among authors: clementi m. Hum Mol Genet. 1993 Jul;2(7):1057-9. doi: 10.1093/hmg/2.7.1057. Hum Mol Genet. 1993. PMID: 8364545 No abstract available.

9

Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: branchio-oto-costal syndrome?

Clementi M, Mammi I, Tenconi R. Clementi M, et al. Am J Med Genet. 1997 Jan 10;68(1):91-3. Am J Med Genet. 1997. PMID: 8986284

10

Inheritance of astigmatism: evidence for a major autosomal dominant locus.

Clementi M, Angi M, Forabosco P, Di Gianantonio E, Tenconi R. Clementi M, et al. Am J Hum Genet. 1998 Sep;63(3):825-30. doi: 10.1086/302014. Am J Hum Genet. 1998. PMID: 9718344 Free PMC article.

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