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Differentiation of glioblastoma multiforme from astrocytomas by in vitro 1H MRS analysis of human brain tumors.
Carpinelli G, Carapella CM, Palombi L, Raus L, Caroli F, Podo F. Carpinelli G, et al. Among authors: caroli f. Anticancer Res. 1996 May-Jun;16(3B):1559-63. Anticancer Res. 1996. PMID: 8694526
Potential role of in vitro 1H magnetic resonance spectroscopy in the definition of malignancy grading of human neuroepithelial brain tumours.
Carapella CM, Carpinelli G, Knijn A, Raus L, Caroli F, Podo F. Carapella CM, et al. Among authors: caroli f. Acta Neurochir Suppl. 1997;68:127-32. doi: 10.1007/978-3-7091-6513-3_24. Acta Neurochir Suppl. 1997. PMID: 9233428
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.
Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B. Seri M, et al. Among authors: caroli f. Int J Mol Med. 1999 Sep;4(3):285-90. doi: 10.3892/ijmm.4.3.285. Int J Mol Med. 1999. PMID: 10425280
Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.
Mori PG, Priolo M, Lerone M, Pasino M, Caroli F, Cusano R, Seri M, Silengo MC. Mori PG, et al. Among authors: caroli f. Am J Med Genet. 1999 Nov 5;87(1):36-9. Am J Med Genet. 1999. PMID: 10528244
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.
Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G. Marini M, et al. Among authors: caroli f. Am J Med Genet A. 2003 Mar 1;117A(2):112-5. doi: 10.1002/ajmg.a.10163. Am J Med Genet A. 2003. PMID: 12567406
Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene.
Regis S, Dagnino F, Caroli F, Filocamo M. Regis S, et al. Among authors: caroli f. DNA Seq. 2002 Oct;13(5):245-50. doi: 10.1080/1042517021000017126. DNA Seq. 2002. PMID: 12592703
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
Stroppiano M, Regis S, DiRocco M, Caroli F, Gandullia P, Gatti R. Stroppiano M, et al. Among authors: caroli f. J Inherit Metab Dis. 1999 Feb;22(1):43-9. doi: 10.1023/a:1005495131118. J Inherit Metab Dis. 1999. PMID: 10070617
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
Regis S, Filocamo M, Stroppiano M, Corsolini F, Caroli F, Gatti R. Regis S, et al. Among authors: caroli f. Hum Genet. 1998 Jan;102(1):50-3. doi: 10.1007/s004390050652. Hum Genet. 1998. PMID: 9490297
Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).
Vitelli F, Piccini M, Caroli F, Franco B, Malandrini A, Pober B, Jonsson J, Sorrentino V, Renieri A. Vitelli F, et al. Among authors: caroli f. Genomics. 1999 Feb 1;55(3):335-40. doi: 10.1006/geno.1998.5666. Genomics. 1999. PMID: 10049589
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
Regis S, Filocamo M, Corsolini F, Caroli F, Keulemans JL, van Diggelen OP, Gatti R. Regis S, et al. Among authors: caroli f. Eur J Hum Genet. 1999 Feb-Mar;7(2):125-30. doi: 10.1038/sj.ejhg.5200266. Eur J Hum Genet. 1999. PMID: 10196694
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