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Susan Marelli

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
2011 · Maria Clara Bonaglia, Roberto Giorda, et al. · PLoS Genetics · 230
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Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype
2008 · Maria Clara Bonaglia, Roberto Ciccone, et al. · European Journal of Human Genetics · 150
Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions
2010 · Maria C Bonaglia, Susan Marelli, et al. · European Journal of Human Genetics · 126
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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females
2009 · Roberto Giorda, M. Clara Bonaglia, et al. · The American Journal of Human Genetics · 78
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Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum
2016 · Romina Romaniello, Susan Marelli, et al. · Journal of Child Neurology · 57
Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies
2023 · Susan Marelli, Emanuele Micaglio, et al. · Diagnostics · 52
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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females
2009 · Roberto Giorda, M. Clara Bonaglia, et al. · The American Journal of Human Genetics · 41
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Aortic dilatation in Marfan syndrome
2017 · Paolo Salvi, Andrea Grillo, et al. · Journal of Hypertension · 36
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Unreliable Estimation of Aortic Pulse Wave Velocity Provided by the Mobil‐O‐Graph Algorithm‐Based System in Marfan Syndrome
2019 · Paolo Salvi, Giulia Furlanis, et al. · Journal of the American Heart Association · 31
Non-transferrin-bound iron, iron-related oxidative stress and lipid peroxidation in β-thalassemia intermedia
2000 · Maria Domenica Cappellini, Dario Tavazzi, et al. · Transfusion Science · 24
NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis
2019 · Davide Gentilini, Antonino Oliveri, et al. · PLoS ONE · 23
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Areal bone mineral density in children and adolescents with Marfan syndrome: Evidence of an evolving problem
2014 · Giuliana Trifirò, Susan Marelli, et al. · Bone · 20
The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features
2017 · Claudia Dolci, Valentina Pucciarelli, et al. · Clinical Anatomy · 19
Increased fracture rate in children and adolescents with Marfan syndrome
2020 · Giuliana Trifirò, Stefano Mora, et al. · Bone · 18
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1‐q21 chromosome deletion involving GPR56 gene
2009 · Renato Borgatti, Susan Marelli, et al. · Clinical Genetics · 15
Is SF-12 a valid and reliable measurement of health-related quality of life among adults with Marfan syndrome? A confirmatory study
2021 · Nathasha Udugampolage, Rosario Caruso, et al. · PLoS ONE · 14
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Impaired Central Pulsatile Hemodynamics in Children and Adolescents With Marfan Syndrome
2017 · Andrea Grillo, Paolo Salvi, et al. · Journal of the American Heart Association · 14
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SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features
2021 · Roberta Epifanio, Roberto Giorda, et al. · Brain Sciences · 12
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Subtelomeric trisomy 21q: A new benign chromosomal variant
2006 · Maria Clara Bonaglia, Susan Marelli, et al. · European Journal of Medical Genetics · 9
3D Morphometric Evaluation of Craniofacial Features in Adult Subjects with Marfan Syndrome
2016 · Claudia DOLCI, Valentina PUCCIARELLI, et al. · International Conference on 3D Body Scanning Technologies (3DBST) · 8
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5B.05
2015 · A. Grillo, A. Pini, et al. · Journal of Hypertension · 8
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
2018 · Valentina Cirello, Valentina Giorgini, et al. · Frontiers in Genetics · 7
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Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases
2020 · Claudia Ciaccio, Serena Redaelli, et al. · Cytogenetic and Genome Research · 5
Pharmacogenetic approach to losartan in Marfan patients: a starting point to improve dosing regimen?
2016 · Felicia Stefania Falvella, Susan Marelli, et al. · Drug Metabolism and Personalized Therapy · 5
3D Craniofacial Morphometric Analysis of Young Subjects with Marfan Syndrome: A Preliminary Report
2015 · Claudia DOLCI, Valentina PUCCIARELLI, et al. · International Conference on 3D Body Scanning Technologies (3DBST) · 5
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Works count: 43
Citation count: 1,021
H-index: 15
I10-index: 18
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