Publications by authors named "Maria Scarano"

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Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease Patients.
Giulia Di Rauso, Alessandro Ghibellini, Sara Grisanti, Valentina Fioravanti, Edoardo Monfrini, Maria Scarano

Mov Disord Clin Pract· September 2025

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Quantitative dopamine transporter imaging assessment in Parkinson's disease patients carrying GBA gene mutations compared with idiopathic PD patients: A case-control study.
Sara Grisanti, Alessandro Fraternali, Francesco Cavallieri, Valentina Fioravanti, Massimiliano Casali, Maria Scarano

Brain Behav· July 2023

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Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report.
Daphna Varadi, Benjamin Caplan, Maria Scarano, Rafat Ahmed

J Investig Med High Impact Case Rep· June 2023

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Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Michelle Adutwum, Anna Hurst, Ghayda Mirzaa, Jessica D Kushner, Caleb Rogers, Maria I Scarano

Clin Genet· January 2023

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Phenotypic continuum of NFU1-related disorders.
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Maria Irene Scarano

Ann Clin Transl Neurol· December 2022

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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Rhonda E Schnur, Sairah Yousaf, James Liu, Wendy K Chung, Lindsay Rhodes, Maria I Scarano

Genet Med· September 2021

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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Maria Scarano

J Clin Invest· March 2020

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Biallelic disruption of is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.
Samin A Sajan, Jaya Ganesh, Deepali N Shinde, Zöe Powis, Maria I Scarano

J Med Genet· December 2019

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Compound sarcomeric mutations causing hypertrophic cardiomyopathy in a young Sardinian soccer player: a family affair.
Nicola Marziliano, Valeria Orrù, Tanuccia Secci, Sara Uras, Claudio Reverberi, Maria I Scarano

J Sports Med Phys Fitness· December 2019

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sarah Sheppard, Sawona Biswas, Mindy H Li, Vijayakumar Jayaraman, Ian Slack, Maria I Scarano

Genet Med· December 2018

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Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Edward J Romasko, Batsal Devkota, Sawona Biswas, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Maria I Scarano

Am J Hematol· January 2018

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Mindy H Li, Jenica L Abrudan, Matthew C Dulik, Ariella Sasson, Joshua Brunton, Maria I Scarano

Hum Genomics· July 2015

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Epigenome-derived drugs: recent advances and future perspectives.
Paraskevi Vogiatzi, Pierpaolo Aimola, Maria Irene Scarano, Pier Paolo Claudio

Drug News Perspect· December 2007

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Characterization of a novel satellite DNA sequence from Flying Dragon (Poncirus trifoliata).
Bruna De Felice, Robert R Wilson, Loredana Ciarmiello, Maria Teresa Scarano, Sergio Ferrante

Genetica· May 2006

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Different patterns of extracellular matrix protein expression in the convexity and the concavity of the dilated aorta with bicuspid aortic valve: preliminary results.
Maurizio Cotrufo, Alessandro Della Corte, Luca S De Santo, Cesare Quarto, Marisa De Feo, Maria Scarano

J Thorac Cardiovasc Surg· August 2005

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DNA methylation 40 years later: Its role in human health and disease.
Maria Irene Scarano, Maria Strazzullo, Maria Rosaria Matarazzo, Maurizio D'Esposito

J Cell Physiol· July 2005

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The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.
Marina De Rosa, Maria I Scarano, Luigi Panariello, Gemma Morelli, Gabriele Riegler

Hum Mutat· June 2003

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