Berardino Porfirio - Concepedia

Author

Berardino Porfirio

University of Florence ORCID

Also Known As

A. Porfirio, B PORFIRIO, B Porfirio, B. PORFIRIO, B. Porfirio, BERARDINO PORFIRIO, Berardino Porfirio, Pedro Pinto

113

Publications

2.2K

Citations

H-Index

111

Concepts

All Affiliations

University of Florence Azienda Ospedaliero-Universitaria Careggi University of Rome Tor Vergata Istituti di Ricovero e Cura a Carattere Scientifico Sapienza University of Rome

About

Berardino Porfirio is an author at University of Florence specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	20	31	1.3K
2	Health Sciences	6	6	164
3	Natural Sciences	1	1	41
4	Public Health	1	1	148
5	Social Sciences	1	1	15

Berardino Porfirio

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
The Metabonomic Signature of Celiac Disease Ivano Bertini, V. De Carli, Claudio Luchinat, Journal of Proteome Research	2008	173
Influence of Calcium-Sensing Receptor Gene on Urinary Calcium Excretion in Stone-Forming Patients Giuseppe Vezzoli, Annalisa Tanini, Luigi Ferrucci, Journal of the American Society of Nephrology	2002	154
Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification Michael T. Parsons, Emma Tudini, Hongyan Li, Human Mutation GeneticsGenetic EpidemiologyPathologyMultifactorial Likelihood AnalysisDisease Gene Identification	2019	148
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy Martina Nemethova, Ján Radvánszky, Ľudevít Kádaši, European Journal of Human Genetics Genetic DisorderAlkaptonuria PatientsGeneticsHematologyGenetic Epidemiology	2015	102
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation Costanza Bacci, Roberta Sestini, Aldesia Provenzano, Neurogenetics Neuro-oncologyFamilial Smarcb1 MutationMendelian DisorderGenetic DisorderPathology	2009	101
Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients Daniel Beltrán-Valero de Bernabé, Begoña Granadino, Ilaria Chiarelli, The American Journal of Human Genetics Polymorphism AnalysisGenetic DisorderAlkaptonuria PatientsGeneticsHematology	1998	94
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation Adele D’Amico, Claudio Graziano, Giuseppe Pacileo, Neuromuscular Disorders Cardiac MuscleRare DiseasesHeart FailureCardiomyopathyGenetics	2006	87
Human striatal neuroblasts develop and build a striatal-like structure into the brain of Huntington's disease patients after transplantation Pasquale Gallina, M. Paganini, Letizia Lombardini, Experimental Neurology Human Striatal NeuroblastsNeurodegenerative DiseasesDevelopmental BiologyBrain DevelopmentNeuroanatomy	2009	81
Cumulative prognostic value ofp53 mutations and bcl-2 protein expression in head-and-neck cancer treated by radiotherapy Oreste Gallo, Ilaria Chiarelli, Vieri Boddi, International Journal of Cancer Bcl-2 Protein ExpressionPathologyPrimary HnsccGliomaTreatment Resistance	1999	70
Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes Bruno Dallapiccola, Berardino Porfirio, Vahe Mokini, Human Genetics CytogeneticsGeneticsFanconi Anemia LymphocytesHematologyImmunology	1985	67

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