Rosangela Artuso - Concepedia

Author

Rosangela Artuso

Also Known As

Artuso Rosangela, Artuso, R, Chiara Gabbi, J. Y. Meuwly, P-PredictUs*, R Artuso, R. Artuso, Rosangela Artuso, Sabrina Ravaglia

Publications

3.6K

Citations

H-Index

Concepts

All Affiliations

University of Siena Meyer Children's Hospital University of Florence University of Padua Azienda Ospedaliera Universitaria Senese

About

Rosangela Artuso is an author at University of Siena specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	14	1.2K
2	Cell Biology	3	3	166
3	Public Health	2	2	49
4	Natural Sciences	1	1	24
5	Biostatistics	1	1	32

Rosangela Artuso

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome Francesca Ariani, Dalila Rondinella, Rosangela Artuso, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2008	430
Mutations in <i>FN1</i> cause glomerulopathy with fibronectin deposits Federica Castelletti, Roberta Donadelli, Federica Banterla, Proceedings of the National Academy of Sciences Glomerular DiseaseFn1 MutationGeneticsRenal PathologyPathology	2008	152
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis Viviana Palazzo, Aldesia Provenzano, Francesca Becherucci, Kidney International HemodialysisUrologyRenal FunctionMedicineGenetic Epidemiology	2017	120
Novel <i>FOXG1</i> mutations associated with the congenital variant of Rett syndrome Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Rosangela Artuso, Journal of Medical Genetics	2009	108
Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome Zafar Iqbal, Pilar Cejudo-Martı́n, Arjan de Brouwer, The American Journal of Human Genetics Frank-ter Haar SyndromeTranscriptional RegulationGenetic DisorderGeneticsSkeletal Dysplasia	2010	101
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome Elena Marcocci, Vera Uliana, Mirella Bruttini, Nephrology Dialysis Transplantation	2009	93
Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome Samuela Landini, Benedetta Mazzinghi, Francesca Becherucci, Clinical Journal of the American Society of Nephrology	2019	93
Advances in Alport syndrome diagnosis using next-generation sequencing Rosangela Artuso, Chiara Fallerini, Laura Dosa, European Journal of Human Genetics Mendelian DisorderMedicineGeneticsNext-generation SequencingHistopathology	2011	82
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients Stefania Mantovani, Sergio Daga, Chiara Fallerini, Genes and Immunity	2021	75
Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria Rosangela Artuso, Maria Antonietta Mencarelli, Roberta Polli, Brain and Development Early-onset Seizure VariantNeurological DisorderRett SyndromeNeurologyNeuropathology	2009	72

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