Andria G - Search Results

1

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD. Grasso M, et al. Among authors: andria g. Am J Med Genet. 1999 Jul 30;85(3):311-6. doi: 10.1002/(sici)1096-8628(19990730)85:3<311::aid-ajmg24>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10398249

2

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

Parenti G, Rizzolo MG, Ghezzi M, Di Maio S, Sperandeo MP, Incerti B, Franco B, Ballabio A, Andria G. Parenti G, et al. Among authors: andria g. Am J Med Genet. 1995 Jul 3;57(3):476-8. doi: 10.1002/ajmg.1320570323. Am J Med Genet. 1995. PMID: 7677154

3

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G. Sebastio G, et al. Among authors: andria g. Am J Hum Genet. 1995 Jun;56(6):1324-33. Am J Hum Genet. 1995. PMID: 7762555 Free PMC article.

4

Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form.

Titomanlio L, Della Casa R, Lecora M, Farina V, Sebastio G, Andria G, Parenti G. Titomanlio L, et al. Among authors: andria g. Am J Med Genet. 1999 Sep 3;86(1):82-5. Am J Med Genet. 1999. PMID: 10440835

5

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

Sebastio G, Sperandeo MP, Andria G. Sebastio G, et al. Among authors: andria g. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):54-62. doi: 10.1002/ajmg.c.30287. Epub 2011 Feb 9. Am J Med Genet C Semin Med Genet. 2011. PMID: 21308987 Review.

6

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.

Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S, Pomponi MG, Mazzei A, Neri G, Andria G, Brahe C. Sebastio G, et al. Among authors: andria g. Am J Med Genet. 1996 May 17;63(2):366-72. doi: 10.1002/(SICI)1096-8628(19960517)63:2<366::AID-AJMG8>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8725787

7

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.

de Franchis R, Buoninconti A, Mandato C, Pepe A, Sperandeo MP, Del Gado R, Capra V, Salvaggio E, Andria G, Mastroiacovo P. de Franchis R, et al. Among authors: andria g. J Med Genet. 1998 Dec;35(12):1009-13. doi: 10.1136/jmg.35.12.1009. J Med Genet. 1998. PMID: 9863598 Free PMC article.

8

Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.

Melis D, Perone L, Sperandeo MP, Sabbatino MS, Tuzzi MR, Romano A, Parenti G, Andria G. Melis D, et al. Among authors: andria g. J Med Genet. 1998 Dec;35(12):1047-9. doi: 10.1136/jmg.35.12.1047. J Med Genet. 1998. PMID: 9863608 Free PMC article.

9

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.

Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G. Borsani G, et al. Among authors: andria g. Nat Genet. 1999 Mar;21(3):297-301. doi: 10.1038/6815. Nat Genet. 1999. PMID: 10080183

10

New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia.

Pierri NB, Lecora M, Passariello A, Scala I, Andria G. Pierri NB, et al. Among authors: andria g. Am J Med Genet. 2000 Mar 13;91(2):123-5. doi: 10.1002/(sici)1096-8628(20000313)91:2<123::aid-ajmg8>3.0.co;2-n. Am J Med Genet. 2000. PMID: 10748410

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