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Silvana Briuglia

Observed names: Briuglia S, Briuglia Silvana, Briuglia, S., Briuglia, Silvana, S Briuglia, S. Briuglia, SILVANA BRIUGLIA
ORCID: 0000-0002-5213-441X
Observed ORCID: 0000-0002-5213-441X
OpenAlex ID: A5059524154
Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women
2002 · C. D. Salpietro, S. Gangemi, et al. · Journal of Perinatal Medicine · 103
Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation
2003 · Enza Maria Valente, Damiano Carmelo Salpietro, et al. · The American Journal of Human Genetics · 95
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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations
2009 · Maria Lisa Dentici, Anna Sarkozy, et al. · European Journal of Human Genetics · 83
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Novel congenital disorder of O -linked glycosylation caused by GALNT2 loss of function
2020 · Monica Zilmer, Andrew C Edmondson, et al. · Brain · 82
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Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): Association with clinical severity and phenotype
2014 · Salvatore Leonardi, Caterina Cuppari, et al. · Allergy and Asthma Proceedings · 80
Angiotensin-Converting Enzyme and Angiotensin Type 2 Receptor Gene Genotype Distributions in Italian Children with Congenital Uropathies
2004 · Luciana Rigoli, Roberto Chimenz, et al. · Pediatric Research · 67
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TLR2 and TLR4 Gene Polymorphisms and Atopic Dermatitis in Italian Children: A Multicenter Study
2011 · C Salpietro, L Rigoli, et al. · International Journal of Immunopathology and Pharmacology · 66
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6‐Mb deletion of 13q12.11–13q12.13
2014 · Piero Pavone, Silvana Briuglia, et al. · American Journal of Medical Genetics Part A · 57
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long‐term follow‐up
2012 · Francesco Nicita, Martino Ruggieri, et al. · Epilepsia · 52
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Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
2003 · Alessia Colosimo, Valentina Guida, et al. · Human Mutation · 52
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?
2018 · Luigi Donato, Concetta Scimone, et al. · Investigative Ophthalmology & Visual Science · 49
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A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity
2015 · Vincenzo Salpietro, Martino Ruggieri, et al. · American Journal of Medical Genetics Part A · 45
Gene-Environment Interaction in Childhood Asthma
2011 · L Rigoli, S Briuglia, et al. · International Journal of Immunopathology and Pharmacology · 44
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting
2003 · Carmelo Damiano Salpietro, Silvana Briuglia, et al. · European Journal of Pediatrics · 28
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
2021 · Valentina Guida, Luciano Calzari, et al. · International Journal of Molecular Sciences · 25
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Disomy of distal Xq in males: Case report and overview
2004 · Antonio Novelli, Laura Bernardini, et al. · American Journal of Medical Genetics Part A · 25
New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer
2015 · Giulia Severi, Laura Bernardini, et al. · American Journal of Medical Genetics Part A · 22
The almond milk: a new approach to the management of cow-milk allergy/intolerance in infants.
2005 · C D Salpietro, S Gangemi, et al. · PubMed · 22
Autoimmune liver disease in Noonan Syndrome
2015 · Italia Loddo, Claudio Romano, et al. · European Journal of Medical Genetics · 20
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
2021 · Ilaria Catusi, Maria Garzo, et al. · Genes · 19
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
2022 · Johannes Luppe, Heinrich Sticht, et al. · European Journal of Human Genetics · 18
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Confirmation of Nablus mask‐like facial syndrome
2003 · Carmelo Damiano Salpietro, Silvana Briuglia, et al. · American Journal of Medical Genetics Part A · 18
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis
2023 · Anna Paola Capra, Maria Angela La Rosa, et al. · Genes · 17
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Cutis laxa in Kabuki make-up syndrome
2005 · Mario Vaccaro, Damiano Carmelo Salpietro, et al. · Journal of the American Academy of Dermatology · 17
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation
2018 · Carole Le Coz, Brian E. Nolan, et al. · Frontiers in Immunology · 16
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Works count: 95
Citation count: 1,423
H-index: 19
I10-index: 40
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