Novelli G - Search Results

1

Characterization of deletions in the dystrophin gene giving mild phenotypes.

Love DR, Flint TJ, Marsden RF, Bloomfield JF, Daniels RJ, Forrest SM, Gabrielli O, Giorgi P, Novelli G, Davies KE. Love DR, et al. Among authors: novelli g. Am J Med Genet. 1990 Sep;37(1):136-42. doi: 10.1002/ajmg.1320370132. Am J Med Genet. 1990. PMID: 2240031

2

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.

Amati F, Conti E, Novelli A, Bengala M, Diglio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B. Amati F, et al. Among authors: novelli g, novelli a. Eur J Hum Genet. 1999 Dec;7(8):903-9. doi: 10.1038/sj.ejhg.5200399. Eur J Hum Genet. 1999. PMID: 10602366

3

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al. Ryan AK, et al. Among authors: novelli g. J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798. J Med Genet. 1997. PMID: 9350810 Free PMC article.

4

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

Melchionda S, Cobo A, Gennarelli M, Martorell L, Fattorini C, Baiget M, Lopez de Munain A, Johnson K, Shelbourne P, Novelli G, et al. Melchionda S, et al. Among authors: novelli g. J Med Genet. 1992 Nov;29(11):789-90. doi: 10.1136/jmg.29.11.789. J Med Genet. 1992. PMID: 1453428 Free PMC article.

5

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.

Dallapiccola B, Mandich P, Bellone E, Selicorni A, Mokin V, Ajmar F, Novelli G. Dallapiccola B, et al. Among authors: novelli g. Am J Med Genet. 1993 Nov 1;47(6):921-4. doi: 10.1002/ajmg.1320470622. Am J Med Genet. 1993. PMID: 7904122

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. Among authors: novelli g, novelli a. J Med Genet. 1999 Jun;36(6):478-80. J Med Genet. 1999. PMID: 10874638 Free PMC article.

7

Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease.

Mandich P, Restagno G, Novelli G, Bellone E, Potenza L, Varetto O, Dallapiccola B, Carbonara A, Ajmar F. Mandich P, et al. Among authors: novelli g. Am J Med Genet. 1990 Apr;35(4):579-81. doi: 10.1002/ajmg.1320350426. Am J Med Genet. 1990. PMID: 2333889

8

Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.

Torrente I, Mangino M, Gennarelli M, Novelli G, Giannotti A, Vadalà P, Dallapiccola B. Torrente I, et al. Among authors: novelli g. Am J Med Genet. 1997 Oct 17;72(2):242-4. doi: 10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m. Am J Med Genet. 1997. PMID: 9382152 No abstract available.

9

Identification of a novel mutation in the SRY gene in a 46, XY female patient.

Salehi LB, Scarciolla O, Vanni GF, Nardone AM, Frajese G, Novelli G, Stuppia L. Salehi LB, et al. Among authors: novelli g. Eur J Med Genet. 2006 Nov-Dec;49(6):494-8. doi: 10.1016/j.ejmg.2006.03.003. Epub 2006 Apr 17. Eur J Med Genet. 2006. PMID: 16675314

10

Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.

Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K. Wuyts W, et al. Among authors: novelli g. Am J Med Genet A. 2005 May 15;135(1):66-8. doi: 10.1002/ajmg.a.30663. Am J Med Genet A. 2005. PMID: 15793835

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

1,181 results

Search Page