Giuffrè M - Search Results

1

Corsello G, Giuffrè M. Corsello G, et al. Among authors: giuffre m. J Matern Fetal Neonatal Med. 2012 Apr;25 Suppl 1:25-9. doi: 10.3109/14767058.2012.664943. Epub 2012 Mar 14. J Matern Fetal Neonatal Med. 2012. PMID: 22356564 Free article. Review.

2

New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.

Giuffrè L, Corsello G, Giuffrè M, Piccione M, Albanese A. Giuffrè L, et al. Among authors: giuffre m. Am J Med Genet. 1994 Jul 1;51(3):266-9. doi: 10.1002/ajmg.1320510319. Am J Med Genet. 1994. PMID: 8074157

3

Lymphoproliferative disorders in Sotos syndrome: observation of two cases.

Corsello G, Giuffrè M, Carcione A, Cuzto ML, Piccione M, Ziino O. Corsello G, et al. Among authors: giuffre m. Am J Med Genet. 1996 Sep 6;64(4):588-93. doi: 10.1002/(SICI)1096-8628(19960906)64:4<588::AID-AJMG12>3.0.CO;2-D. Am J Med Genet. 1996. PMID: 8870927

4

Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?

Corsello G, Albanese A, Piccione M, Giuffrè M, Opitz JM. Corsello G, et al. Among authors: giuffre m. Am J Med Genet. 1996 Dec 18;66(3):265-8. doi: 10.1002/(SICI)1096-8628(19961218)66:3<265::AID-AJMG5>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8985484

5

Osteodysplastic primordial dwarfism (ODPD): notes on brain imaging.

Corsello G, Giuffrè M. Corsello G, et al. Among authors: giuffre m. Am J Med Genet. 1998 Oct 30;80(1):90-1. Am J Med Genet. 1998. PMID: 9800914 No abstract available.

6

Rare sex chromosome aneuploidies in humans: report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes.

Cammarata M, Di Simone P, Graziano L, Giuffrè M, Corsello G, Garofalo G. Cammarata M, et al. Among authors: giuffre m. Am J Med Genet. 1999 Jul 2;85(1):86-7. doi: 10.1002/(sici)1096-8628(19990702)85:1<86::aid-ajmg16>3.0.co;2-m. Am J Med Genet. 1999. PMID: 10377019 Review. No abstract available.

7

Aminoacid profile and oxidative status in children affected by Down syndrome before and after supplementary nutritional treatment.

Ciaccio M, Piccione M, Giuffrè M, Macaione V, Vocca L, Bono A, Corsello G. Ciaccio M, et al. Among authors: giuffre m. Ital J Biochem. 2003 Jun;52(2):72-9. Ital J Biochem. 2003. PMID: 14677423

8

Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q.

Giuffrè M, La Placa S, Carta M, Cataliotti A, Marino M, Piccione M, Pusateri F, Meli F, Corsello G. Giuffrè M, et al. Am J Med Genet A. 2004 Apr 15;126A(2):186-90. doi: 10.1002/ajmg.a.20561. Am J Med Genet A. 2004. PMID: 15057984

9

Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.

Giuffrè M, Sammarco P, Fabiano C, Giardina F, Lunetta F, Corsello G. Giuffrè M, et al. Am J Med Genet A. 2004 Jul 1;128A(1):46-7. doi: 10.1002/ajmg.a.30075. Am J Med Genet A. 2004. PMID: 15211655

10

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F. Giuffrè B, et al. Among authors: giuffre m. J Inherit Metab Dis. 2004;27(5):609-19. doi: 10.1023/b:boli.0000042980.45692.bb. J Inherit Metab Dis. 2004. PMID: 15669676

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