Mariella Sorcini

Author PubWeight™ 16.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet 2005 2.75
2 Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood 2004 2.19
3 Somatic PTPN11 mutations in childhood acute myeloid leukaemia. Br J Haematol 2005 1.25
4 Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003). Eur J Endocrinol 2005 1.22
5 Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 2006 1.21
6 Role of galectin-3 in diabetic nephropathy. J Am Soc Nephrol 2003 1.10
7 Oxidative stress in diabetes-induced endothelial dysfunction involvement of nitric oxide and protein kinase C. Free Radic Biol Med 2003 1.03
8 Galectin-3/AGE-receptor 3 knockout mice show accelerated AGE-induced glomerular injury: evidence for a protective role of galectin-3 as an AGE receptor. FASEB J 2004 1.03
9 Development of age-dependent glomerular lesions in galectin-3/AGE-receptor-3 knockout mice. Am J Physiol Renal Physiol 2005 1.03
10 Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. Leuk Res 2004 0.99
11 Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet 2004 0.92
12 Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. Cancer Genet Cytogenet 2006 0.84
13 High risk of congenital hypothyroidism in multiple pregnancies. J Clin Endocrinol Metab 2007 0.82
14 Development of diabetic nephropathy in the Milan normotensive strain, but not in the Milan hypertensive strain: possible permissive role of hemodynamics. Kidney Int 2005 0.81