|
1
|
Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy.
|
Am J Med
|
2004
|
1.67
|
|
2
|
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.
|
Hum Mol Genet
|
2006
|
1.36
|
|
3
|
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.
|
Nat Struct Mol Biol
|
2004
|
1.33
|
|
4
|
Activation of MyoD-dependent transcription by cdk9/cyclin T2.
|
Oncogene
|
2002
|
1.33
|
|
5
|
De novo balanced chromosome rearrangements in prenatal diagnosis.
|
Prenat Diagn
|
2009
|
1.29
|
|
6
|
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome.
|
Hum Genet
|
2005
|
1.13
|
|
7
|
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.
|
J Cell Physiol
|
2006
|
1.09
|
|
8
|
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
|
BMC Genomics
|
2006
|
1.08
|
|
9
|
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.
|
Hum Genet
|
2010
|
1.02
|
|
10
|
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.
|
Dig Dis Sci
|
2007
|
0.96
|
|
11
|
Tumor-specific hyperactive low-molecular-weight cyclin E isoforms detection and characterization in non-metastatic colorectal tumors.
|
Cancer Biol Ther
|
2006
|
0.93
|
|
12
|
Duplication of 9 p11.2-p13.1: a benign cytogenetic variant.
|
Prenat Diagn
|
2004
|
0.92
|
|
13
|
Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome.
|
Cancer
|
2011
|
0.84
|
|
14
|
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
|
Clin Chem Lab Med
|
2004
|
0.83
|
|
15
|
Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age.
|
Am J Med Genet A
|
2007
|
0.82
|
|
16
|
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
|
Hum Mutat
|
2006
|
0.82
|
|
17
|
Porous silicon surfaces: a candidate substrate for reverse protein arrays in cancer biomarker detection.
|
Electrophoresis
|
2007
|
0.81
|
|
18
|
Effects of VEGF on phenotypic severity in children with hereditary hemorrhagic telangiectasia.
|
J Pediatr Hematol Oncol
|
2009
|
0.79
|
|
19
|
The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience.
|
Genet Test Mol Biomarkers
|
2010
|
0.79
|
|
20
|
Lack of genotoxic effect in workers exposed to very low doses of 1,3-butadiene.
|
Arch Toxicol
|
2005
|
0.79
|
|
21
|
Influence of some detoxification enzyme polymorphisms on cytogenetic biomarkers between individuals exposed to very low doses of 1,3-butadiene.
|
J Occup Environ Med
|
2009
|
0.77
|
|
22
|
Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications.
|
Acta Neuropathol
|
2006
|
0.76
|
|
23
|
Distribution of DYS19, DYS389 I, DYS389 II, DYS390 alleles in a southern Italian population sample.
|
J Forensic Sci
|
2002
|
0.75
|
|
24
|
Distribution of DYS391, DYS392, DYS393, DYS385, alleles in a Southern Italian population sample.
|
J Forensic Sci
|
2002
|
0.75
|
|
25
|
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.
|
Twin Res Hum Genet
|
2007
|
0.75
|
|
26
|
Pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and brain abscess.
|
Respiration
|
2005
|
0.75
|