Sorge G - Search Results

1

Familial Dandy-Walker variant in CDG syndrome.

Fiumara A, Barone R, Nigro F, Sorge G, Pavone L. Fiumara A, et al. Among authors: sorge g. Am J Med Genet. 1996 May 17;63(2):412-3. doi: 10.1002/ajmg.1320630204. Am J Med Genet. 1996. PMID: 8725797 No abstract available.

2

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

Barone R, Sturiale L, Sofia V, Ignoto A, Fiumara A, Sorge G, Garozzo D, Zappia M. Barone R, et al. Among authors: sorge g. Am J Med Genet A. 2008 Aug 15;146A(16):2103-8. doi: 10.1002/ajmg.a.32446. Am J Med Genet A. 2008. PMID: 18629883

3

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. Among authors: sorge g. Am J Med Genet. 1991 Aug 1;40(2):133-7. doi: 10.1002/ajmg.1320400202. Am J Med Genet. 1991. PMID: 1897564

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: sorge g. 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

Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome.

Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. Sorge G, et al. Am J Med Genet. 1998 Dec 4;80(4):403-5. Am J Med Genet. 1998. PMID: 9856572

6

Pallister-Killian syndrome: case report with pineal tumor.

Mauceri L, Sorge G, Incorpora G, Pavone L. Mauceri L, et al. Among authors: sorge g. 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

7

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. Among authors: sorge g. Am J Med Genet. 1989 Jun;33(2):190-3. doi: 10.1002/ajmg.1320330211. Am J Med Genet. 1989. PMID: 2764029

8

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. 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

9

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: sorge g. Am J Med Genet. 1997 Aug 22;71(3):271-4. Am J Med Genet. 1997. PMID: 9268094

10

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: sorge g. 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

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