Anna Conti

Author PubWeight™ 9.70^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.	Am J Med Genet A	2012	0.90
2	Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis.	PLoS One	2011	0.87
3	Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies.	J Mol Diagn	2010	0.86
4	Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring.	Clin Dysmorphol	2012	0.84
5	Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.	Hum Reprod	2011	0.83
6	Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.	Am J Med Genet A	2004	0.82
7	Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.	Epigenetics	2011	0.78
8	Cytogenetic evaluation of isochromosome 17q in posterior fossa tumors of children and correlation with clinical outcome in medulloblastoma. Detection of a novel chromosomal abnormality.	Childs Nerv Syst	2002	0.77
9	Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.	Hum Mol Genet	2012	0.77
10	[Glutathione and N-acetylcysteine in the prevention of free-radical damage in the initial phase of septic shock].	Recenti Prog Med	2002	0.76
11	Short 9q interstitial deletion in a neonate with lethal non-immune hydrops.	Am J Med Genet A	2008	0.75
12	Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?	Am J Med Genet A	2010	0.75