Patrizia De Bonis - Concepedia

Author

Patrizia De Bonis

Istituti di Ricovero e Cura a Carattere Scientifico

Also Known As

P De Bonis, Patrizia De Bonis

Publications

722

Citations

H-Index

Concepts

All Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza University of Foggia University of Bari Aldo Moro Medical Genetics Center

About

Patrizia De Bonis is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	198
2	Molecular Genetics	3	3	106
3	Pathology	3	3	126
4	Nephrology	2	2	92
5	Molecular Biology	1	1	39

Patrizia De Bonis

Publications

714

Citations

H-Index

Page 1

	Year	Citations
Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer Lucia Anna Muscarella, Paola Parrella, Vito D’Alessandro, Epigenetics	2011	132
Linkage Analysis in Keratoconus: Replication of Locus 5q21.2 and Identification of Other Suggestive Loci Luigi Bisceglia, Patrizia De Bonis, Costantina Pizzicoli, Investigative Ophthalmology & Visual Science	2009	116
<i>VSX1</i>Mutational Analysis in a Series of Italian Patients Affected by Keratoconus: Detection of a Novel Mutation Luigi Bisceglia, Marilena Ciaschetti, Patrizia De Bonis, Investigative Ophthalmology & Visual Science	2004	111
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. Patrizia De Bonis, Antonio Laborante, Costantina Pizzicoli, PubMed	2011	107
WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes Filippo Aucella, Luigi Bisceglia, Patrizia De Bonis, Pediatric Nephrology GeneticsRenal PathologyGenetic EpidemiologyPathologyClinical Genetics	2006	50
Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients M. Barbosa, António Lopes, Conceição Mota, Clinical Genetics Slc3a1 GeneMolecular CharacterizationUrologyRenal FunctionType B	2011	42
Molecular Analysis of <i>NPHS2</i> and <i>ACTN4</i> Genes in a Series of 33 Italian Patients Affected by Adult-Onset Nonfamilial Focal Segmental Glomerulosclerosis Filippo Aucella, Patrizia De Bonis, Giuseppe Gatta, Nephron Clinical Practice	2004	39
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis Salvatore Melchionda, Teresa Palladino, Stefano Castellana, Journal of Human Genetics Allelic VariantGenetic DisorderMedicineGeneticsNext-generation Sequencing	2016	39
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients Luigi Bisceglia, Lucia Fischetti, Patrizia De Bonis, Molecular Genetics and Metabolism Allelic VariantSomatic VariantPoint MutationsGenetic DisorderMedicine	2009	34
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H Luigi Bisceglia, Stefano Zoccolella, Alessandra Torraco, European Journal of Human Genetics Rare DiseasesDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2010	33

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