Buttitta P - Search Results

1

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

Fiumara A, Barone R, Buttitta P, Di Pietro M, Scuderi A, Nigro F, Jaeken J. Fiumara A, et al. Among authors: buttitta p. Br J Ophthalmol. 1994 Nov;78(11):845-6. doi: 10.1136/bjo.78.11.845. Br J Ophthalmol. 1994. PMID: 7848982 Free PMC article.

2

Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I.

Fiumara A, Barone R, Buttitta P, Musso R, Pavone L, Nigro F, Jaeken J. Fiumara A, et al. Among authors: buttitta p. Thromb Haemost. 1996 Oct;76(4):502-4. Thromb Haemost. 1996. PMID: 8902985

3

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

Pavone L, Fiumara A, Barone R, Rizzo R, Buttitta P, Dobyns WB, Jaeken J. Pavone L, et al. Among authors: buttitta p. J Neurol. 1996 Oct;243(10):700-5. doi: 10.1007/BF00873975. J Neurol. 1996. PMID: 8923302

4

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. Parenti G, et al. Among authors: buttitta p. Am J Med Genet. 1997 Dec 12;73(2):139-43. doi: 10.1002/(sici)1096-8628(19971212)73:2<139::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9409863

5

Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.

Corsello G, Buttitta P, Cammarata M, Lo Presti A, Maresi E, Zumpani L, Giuffrè L. Corsello G, et al. Among authors: buttitta p. Am J Med Genet. 1990 Oct;37(2):244-9. doi: 10.1002/ajmg.1320370216. Am J Med Genet. 1990. PMID: 2147361

6

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.

Mottes M, Sangalli A, Valli M, Gomez Lira M, Tenni R, Buttitta P, Pignatti PF, Cetta G. Mottes M, et al. Among authors: buttitta p. Hum Genet. 1992 Jul;89(5):480-4. doi: 10.1007/BF00219169. Hum Genet. 1992. PMID: 1634225

7

Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.

Tenni R, Biglino P, Dyne K, Rossi A, Filocamo M, Pendola F, Brunelli P, Buttitta P, Borrone C, Cetta G. Tenni R, et al. Among authors: buttitta p. J Inherit Metab Dis. 1991;14(2):189-201. doi: 10.1007/BF01800591. J Inherit Metab Dis. 1991. PMID: 1886404

8

Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection.

Maserati E, Pasquali F, Zuffardi O, Buttitta P, Cuoco C, Defant G, Gimelli G, Fraccaro M. Maserati E, et al. Among authors: buttitta p. Ann Genet. 1991;34(3-4):239-46. Ann Genet. 1991. PMID: 1809233

9

MLO's survey of computer use in the laboratory.

Pallatroni L, Buttitta P. Pallatroni L, et al. Among authors: buttitta p. MLO Med Lab Obs. 1998 Aug;30(8):56-8, 60, 62. MLO Med Lab Obs. 1998. PMID: 10185547 No abstract available.

10

MLO's national CLIA '88 survey, Part 2: Praise versus protest--views from both sides of the fence.

Berger D, Buttitta P, Trotto NE. Berger D, et al. Among authors: buttitta p. MLO Med Lab Obs. 1998 Jun;30(6):36, 38, 40-2 passim. MLO Med Lab Obs. 1998. PMID: 10180444

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