Pavone L - Search Results

1

The fragile X in Sicily: an epidemiological survey.

Neri G, Sanfilippo S, Pavone L, Mollica F, Barberi I, Giuffrè L, Romano C, Mattina T, Cammarata M, Ragusa MG, et al. Neri G, et al. Among authors: pavone l. Am J Med Genet. 1988 May-Jun;30(1-2):665-72. doi: 10.1002/ajmg.1320300167. Am J Med Genet. 1988. PMID: 3177477

2

Seizures in patients with trisomy 21.

Romano C, Tiné A, Fazio G, Rizzo R, Colognola RM, Sorge G, Bergonzi P, Pavone L. Romano C, et al. Among authors: pavone l. Am J Med Genet Suppl. 1990;7:298-300. doi: 10.1002/ajmg.1320370758. Am J Med Genet Suppl. 1990. PMID: 2149964

3

A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome.

Pavone L, Rizzo R, Tiné A, Micali G, Sorge G, Neri G. Pavone L, et al. Am J Med Genet. 1989 Jun;33(2):190-3. doi: 10.1002/ajmg.1320330211. Am J Med Genet. 1989. PMID: 2764029

4

Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields.

Pavone L, Viljoen D, Ardito S, Rizzo R, Neri G, Longo G, Beighton P. Pavone L, et al. Am J Med Genet. 1989 Jun;33(2):161-4. doi: 10.1002/ajmg.1320330203. Am J Med Genet. 1989. PMID: 2764023

5

Partial trisomy 12q: report of a case and review.

Roberts SH, Mattina T, Laurence KM, Sorge G, Pavone L. Roberts SH, et al. Among authors: pavone l. J Med Genet. 1981 Dec;18(6):470-3. doi: 10.1136/jmg.18.6.470. J Med Genet. 1981. PMID: 7334509 Free PMC article.

6

Routine clinical application of the FRAXA Pfu PCR assay: limits and utility.

Condorelli DF, Milana G, Dell'Albani P, Roccazzello AM, Insirello E, Pavone L, Mollica F. Condorelli DF, et al. Among authors: pavone l. Clin Genet. 1996 Nov;50(5):366-71. doi: 10.1111/j.1399-0004.1996.tb02389.x. Clin Genet. 1996. PMID: 9007325

7

Trisomy 22 mosaicism.

Mollica F, Sorge G, Pavone L. Mollica F, et al. Among authors: pavone l. J Med Genet. 1977 Jun;14(3):224-5. doi: 10.1136/jmg.14.3.224. J Med Genet. 1977. PMID: 881717 Free PMC article.

8

Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.

Mattina T, Palumbo O, Stallone R, Pulvirenti RM, Di Dio L, Pavone P, Carella M, Pavone L. Mattina T, et al. Among authors: pavone l, pavone p. Eur J Med Genet. 2012 Dec;55(12):747-52. doi: 10.1016/j.ejmg.2012.09.006. Epub 2012 Sep 29. Eur J Med Genet. 2012. PMID: 23032921 Review.

9

Hereditary twenty-nail dystrophy in a Sicilian family.

Pavone L, Li Volti S, Guarneri B, La Rosa M, Sorge G, Incorpora G, Mollica F. Pavone L, et al. J Med Genet. 1982 Oct;19(5):337-40. doi: 10.1136/jmg.19.5.337. J Med Genet. 1982. PMID: 7143386 Free PMC article.

10

Ocular manifestations in a family with probably X-linked cataracts.

Pavone L, La Rosa M, Sorge G, Scaletta S, Li Volti S, Mollica F. Pavone L, et al. Clin Genet. 1981 Oct;20(4):243-6. doi: 10.1111/j.1399-0004.1981.tb01028.x. Clin Genet. 1981. PMID: 6800675 No abstract available.

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