Silvana Briuglia - Concepedia

Author

Silvana Briuglia

Also Known As

Briuglia S, Briuglia Silvana, Briuglia, S., Briuglia, Silvana, M Cecilia D'asdia, S Briuglia, S. Briuglia, Silvana Briuglia

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

University of Messina Bambino Gesù Children's Hospital Istituti di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza Sapienza University of Rome

About

Silvana Briuglia is an author at University of Messina specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	17	738
2	Health Sciences	2	2	71
3	Natural Sciences	2	2	108
4	Arts	1	1	15
5	Public Health	1	1	102

Silvana Briuglia

Publications

1.1K

Citations

H-Index

Page 1

	Year	Citations
Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women Carmelo Salpietro, Sebastiano Gangemi, Paola Lucia Minciullo, Journal of Perinatal Medicine NutritionCadmium LevelsLow Cadmium ChallengeEnvironmental HealthToxicology	2002	102
Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation Enza Maria Valente, D. C. Salpietro, Francesco Brancati, The American Journal of Human Genetics Molar Tooth MalformationNovel Cerebello-renal SyndromeCraniofacial Surgery	2003	95
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations Maria Lisa Dentici, Anna Sárközy, Francesca Pantaleoni, European Journal of Human Genetics Mendelian DisorderCardio-facio-cutaneous SyndromeGenetic DisorderGeneticsGenotype–phenotype Correlations	2009	82
Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): Association with clinical severity and phenotype Salvatore Leonardi, Caterina Cuppari, Sara Manti, Allergy and Asthma Proceedings InflammationAeds ChildrenAllergyNaaeds TypesClinical Allergy	2014	81
Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Brain High DensityProtein GlycosylationDevelopmental BiologyMendelian DisorderBiochemistry	2020	80
TLR2 and TLR4 Gene Polymorphisms and Atopic Dermatitis in Italian Children: A Multicenter Study Carmelo Salpietro, Luciana Rigoli, Michele Miraglia del Giudice, International Journal of Immunopathology and Pharmacology Toll-like ReceptorsTlsr PolymorphismsAtopic DermatitisTlr4 Gene PolymorphismsGenetic Epidemiology	2011	68
Angiotensin-Converting Enzyme and Angiotensin Type 2 Receptor Gene Genotype Distributions in Italian Children with Congenital Uropathies Luciana Rigoli, Roberto Chimenz, Chiara Di Bella, Pediatric Research UrologyGeneticsGenetic EpidemiologyPediatricsItalian Children	2004	66
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long‐term follow‐up Francesco Nicita, Martino Ruggieri, Agata Polizzi, Epilepsia	2012	52
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay Alessia Colosimo, Valentina Guida, Luciana Rigoli, Human Mutation Mendelian DisorderWolframin MapsMedicineGeneticsInherited Metabolic Disease	2003	52
Stargardt Phenotype Associated With Two <i>ELOVL4</i> Promoter Variants and <i>ELOVL4</i> Downregulation: New Possible Perspective to Etiopathogenesis? Luigi Donato, Concetta Scimone, Carmela Rinaldi, Investigative Ophthalmology & Visual Science	2018	47

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