| Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans | Human Mutation | 2007 | 504 |
| ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease | Neurology | 2007 | 270 |
| Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton | Brain | 2007 | 116 |
| The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study | Atherosclerosis | 2007 | 58 |
| Fat cell size, insulin sensitivity, and inflammation in obese children | Journal of Pediatrics | 2007 | 53 |
| Cross-talk between NO and arachidonic acid in inflammation | Current Medicinal Chemistry | 2007 | 47 |
| Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease | BMC Medical Genetics | 2007 | 46 |
| Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma | Clinical and Experimental Allergy | 2007 | 39 |
| Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome | European Journal of Human Genetics | 2007 | 38 |
| ApoE epsilon2/epsilon3/epsilon4 polymorphism, ApoC-III/ApoE ratio and metabolic syndrome | Clinical and Experimental Medicine | 2007 | 37 |
| ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study | European Journal of Human Genetics | 2007 | 35 |
| Association of functional gene variants in the regulatory regions of COX-2 gene (PTGS2) with nonmelanoma skin cancer after organ transplantation | British Journal of Dermatology | 2007 | 31 |
| Physical activity: an effective way to control weight in children? | Nutrition, Metabolism and Cardiovascular Diseases | 2007 | 31 |
| Is serum Cystatin-C a suitable marker of renal function in children? | Annals of Clinical and Laboratory Science | 2007 | 29 |
| Cystic fibrosis and lactase persistence: a possible correlation | European Journal of Human Genetics | 2007 | 25 |
| The laparoscopic Vecchietti technique for vaginal agenesis | International Journal of Gynecology and Obstetrics | 2007 | 25 |
| Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder? | Journal of Investigative Dermatology | 2007 | 20 |
| Highly preferential association of NonF508del CF mutations with the M470 allele | Journal of Cystic Fibrosis | 2007 | 14 |
| Clinicopathological evaluation of 59 cases of fetal death | Archives of Gynecology and Obstetrics | 2007 | 14 |
| Circulating ghrelin levels in girls with central precocious puberty are reduced during treatment with LHRH analog | European Journal of Endocrinology | 2007 | 10 |
| Carbohydrate-deficient transferrin determined in blood microsamples from healthy newborns by using capillary zone electrophoresis | Scandinavian Journal of Clinical and Laboratory Investigation | 2007 | 7 |
| The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity | Clinical Chemistry and Laboratory Medicine | 2007 | 7 |
| Functional characterization of the ribonucleoprotein, PTB-binding 1/Raver1 promoter region | Gene | 2007 | 7 |
| Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center | Genetic Testing and Molecular Biomarkers | 2007 | 6 |
| Lack of association between thyrotropin receptor gene polymorphisms and subclinical hypothyroidism in children | Journal of Endocrinological Investigation | 2007 | 5 |
