Pavone L - Search Results

1

Perrault syndrome: evidence for progressive nervous system involvement.

Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM. Fiumara A, et al. Among authors: pavone l. Am J Med Genet A. 2004 Jul 30;128A(3):246-9. doi: 10.1002/ajmg.a.20616. Am J Med Genet A. 2004. PMID: 15216544

2

Rett syndrome phenotype following infantile acute encephalopathy.

Fiumara A, Polizzi A, Mazzei R, Conforti L, Magariello A, Sorge G, Pavone L. Fiumara A, et al. Among authors: pavone l. J Child Neurol. 2002 Sep;17(9):700-2. doi: 10.1177/088307380201700910. J Child Neurol. 2002. PMID: 12503649

3

Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome?

Ruggieri M, Abbate M, Parano E, Distefano A, Guarnera S, Pavone L. Ruggieri M, et al. Among authors: pavone l. Am J Med Genet A. 2003 Jan 15;116A(2):170-5. doi: 10.1002/ajmg.a.10115. Am J Med Genet A. 2003. PMID: 12494437

4

Proteus syndrome: report of a case with severe brain impairment and fatal course.

Rizzo R, Pavone L, Sorge G, Parano E, Baraitser M. Rizzo R, et al. Among authors: pavone l. J Med Genet. 1990 Jun;27(6):399-402. doi: 10.1136/jmg.27.6.399. J Med Genet. 1990. PMID: 2359106 Free PMC article.

5

Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease).

Barone R, Brühl K, Stoeter P, Fiumara A, Pavone L, Beck M. Barone R, et al. Among authors: pavone l. Am J Med Genet. 1996 May 3;63(1):209-17. doi: 10.1002/(SICI)1096-8628(19960503)63:1<209::AID-AJMG37>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723112

6

Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family.

Sorge G, Pavone L, Polizzi A, Mauceri L, Leonardi RM, Tripi T, Opitz JM. Sorge G, et al. Among authors: pavone l. Am J Med Genet. 1997 Apr 14;69(4):388-94. doi: 10.1002/(sici)1096-8628(19970414)69:4<388::aid-ajmg10>3.0.co;2-j. Am J Med Genet. 1997. PMID: 9098488

7

Familial broad terminal phalanges with one individual showing additional anomalies.

Pavone L, Sorge G, Pavone V, Rizzo R, Ruggieri M, Polizzi A, Opitz JM. Pavone L, et al. Among authors: pavone v. Am J Med Genet. 1997 Aug 22;71(3):271-4. Am J Med Genet. 1997. PMID: 9268094

8

Pallister-Killian syndrome: case report with pineal tumor.

Mauceri L, Sorge G, Incorpora G, Pavone L. Mauceri L, et al. Among authors: pavone l. Am J Med Genet. 2000 Nov 6;95(1):75-8. doi: 10.1002/1096-8628(20001106)95:1<75::aid-ajmg15>3.0.co;2-j. Am J Med Genet. 2000. PMID: 11074499

9

Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts.

Pavone L, Incorpora G, Fiumara A, Sorge G, Ramirez F, McGarry J, Wootten J, Minor R. Pavone L, et al. Am J Med Genet. 1991 Aug 1;40(2):133-7. doi: 10.1002/ajmg.1320400202. Am J Med Genet. 1991. PMID: 1897564

10

Epilepsy in fragile X syndrome.

Incorpora G, Sorge G, Sorge A, Pavone L. Incorpora G, et al. Among authors: pavone l. Brain Dev. 2002 Dec;24(8):766-9. doi: 10.1016/s0387-7604(02)00102-x. Brain Dev. 2002. PMID: 12453600

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