Clementi M - Search Results

1

Mutational spectrum of the CTNS gene in Italy.

Mason S, Pepe G, Dall'Amico R, Tartaglia S, Casciani S, Greco M, Bencivenga P, Murer L, Rizzoni G, Tenconi R, Clementi M. Mason S, et al. Among authors: clementi m. Eur J Hum Genet. 2003 Jul;11(7):503-8. doi: 10.1038/sj.ejhg.5200993. Eur J Hum Genet. 2003. PMID: 12825071

2

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.

3

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

4

Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance.

Clementi M, Notari L, Borghi A, Tenconi R. Clementi M, et al. Am J Med Genet. 1996 Apr 24;62(4):336-8. doi: 10.1002/(SICI)1096-8628(19960424)62:4<336::AID-AJMG2>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723060

5

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

6

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.

7

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Bassi MT, et al. Among authors: clementi m. Hum Genet. 2001 Jan;108(1):51-4. doi: 10.1007/s004390000440. Hum Genet. 2001. PMID: 11214907

8

Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene.

Clementi M, Di Gianantonio E, Fabris L, Forabosco P, Strazzabosco M, Tenconi R, Okolicsanyi L. Clementi M, et al. Dig Liver Dis. 2007 Apr;39(4):351-5. doi: 10.1016/j.dld.2006.12.019. Epub 2007 Mar 7. Dig Liver Dis. 2007. PMID: 17347060

9

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

10

How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

Turolla L, Clementi M, Tenconi R. Turolla L, et al. Among authors: clementi m. J Med Genet. 1990 Aug;27(8):516-8. doi: 10.1136/jmg.27.8.516. J Med Genet. 1990. PMID: 2103730 Free PMC article.

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