PubRank

C Perfumo

Author PubWeight™ 9.00‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 2001 1.46
2 Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 2001 1.26
3 Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings. J Med Genet 1997 0.85
4 The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J Med Genet 2000 0.82
5 [Serovars of Salmonella enterica subspecies enterica and its antimicrobial resistance in slaughterhouse pigs]. Rev Argent Microbiol 2009 0.82
6 Maternal uniparental disomy for chromosome 14. Acta Genet Med Gemellol (Roma) 1996 0.80
7 FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes. Am J Med Genet 1999 0.79
8 [PCR-RFLP for Campylobacter jejuni subtyping]. Rev Argent Microbiol 2005 0.78
9 Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q. Br J Haematol 1998 0.77
10 Antley-Bixler syndrome. Clin Genet 1996 0.75
11 Combined use of cytogenetic analysis and FISH for the identification of two antenatal de novo markers as Robertsonian translocations involving the p arms. Ann Genet 1997 0.75
12 An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes. Clin Genet 1996 0.75
13 [In situ ++hybridization with painting probes in the definition of reciprocal translocations]. Pathologica 1994 0.75
14 Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations. Prenat Diagn 2003 0.75