Publications by authors named "Lucia Mauri"

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Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Mauro Lecca, Lucia Mauri, Simone Gana, Alessandra Del Longo, Federica Morelli

Clin Genet· October 2024

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Risk factors and scores for prediction of coronary artery aneurysms in Kawasaki disease: a European monocentric study.
Adriano La Vecchia, Rita Stracquadaino, Lucia Mauri, Lucia Augusta Baselli, Rozan Abdallah

BMC Pediatr· February 2024

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Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.
Jessica Galli, Erika Loi, Laura Dusi, Nadia Pasini, Andrea Rossi, Lucia Mauri

Eur J Pediatr· June 2023

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Development of a score for early identification of children with Kawasaki disease requiring second-line treatment in multi-ethnic populations in Europe: A multicentre retrospective cohort study.
Naim Ouldali, Rosa Maria Dellepiane, Sofia Torreggiani, Lucia Mauri, Gladys Beaujour

Lancet Reg Health Eur· November 2022

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Enterovirus fulminant myocarditis as cause of acute heart failure in a newborn.
Giuseppe Annoni, Francesca De Rienzo, Sandra Nonini, Lorenza Pugni, Stefano M Marianeschi, Luigi Mauri, Lucia Mauri

Int J Cardiol Heart Vasc· October 2022

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When the unexpected happens: intracardiac extracorporeal membrane oxygenation venous cannula kinking.
Alessandra Mayer, Francesco Macchini, Genny Raffaeli, Stefano Ghirardello, Federico Schena, Lucia Mauri

Perfusion· October 2021

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Efficacy of Diving Reflex in Near-Term Fetal Tachycardia.
Marco Papa, Lucia Mauri, Camilla Sandrini, Nicola Persico, Anna Maria Colli

Obstet Gynecol· February 2021

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Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.
Chiara Chiereghin, Michela Robusto, Lucia Mauri, Paola Primignani, Pierangela Castorina

Front Genet· February 2021

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Aortic dilation in Sotos syndrome: An underestimated feature?
Lidia Pezzani, Lucia Mauri, Angelo Selicorni, Angela Peron, Marina Grasso

Am J Med Genet A· July 2020

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Successful Extracorporeal Membrane Oxygenation After Incidental Azygos Vein Cannulation in a Neonate With Right-Sided Congenital Diaphragmatic Hernia Interruption of the Inferior Vena Cava and Azygos Continuation.
Alessandra Mayer, Genny Raffaeli, Federico Schena, Valeria Parente, Gabriele Sorrentino, Lucia Mauri

Front Pediatr· October 2019

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Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
Owen M Siggs, Emmanuelle Souzeau, Francesca Pasutto, Andrew Dubowsky, James E H Smith, Lucia Mauri

JAMA Ophthalmol· April 2019

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Long-Term Outcomes After Percutaneous Closure of Ostium Secundum Atrial Septal Defect in the Young: A Nationwide Cohort Study.
Zakaria Jalal, Sébastien Hascoët, Céline Gronier, François Godart, Lucia Mauri

JACC Cardiovasc Interv· April 2018

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Infective Endocarditis Risk After Percutaneous Pulmonary Valve Implantation With the Melody and Sapien Valves.
Sebastien Hascoet, Lucia Mauri, Caroline Claude, Emmanuelle Fournier, Julie Lourtet

JACC Cardiovasc Interv· March 2017

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Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Lucia Mauri, Emanuela Manfredini, Alessandra Del Longo, Emanuela Veniani, Manuela Scarcello

J Hum Genet· February 2017

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Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
Paola Primignani, Davide Allegrini, Emanuela Manfredini, Lorenza Romitti, Lucia Mauri

Ophthalmic Genet· September 2016

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Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh

Orphanet J Rare Dis· August 2016

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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Tomokazu Souma, Stuart W Tompson, Benjamin R Thomson, Owen M Siggs, Krishnakumar Kizhatil, Lucia Mauri

J Clin Invest· July 2016

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A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency.
Antonella Lonero, Maurizio Delvecchio, Paola Primignani, Roberto Caputo, Sara Bargiacchi, Lucia Mauri

J Pediatr Endocrinol Metab· May 2016

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Detection of the first OCA6 Italian patient in a large cohort of albino subjects.
Emanuela Veniani, Lucia Mauri, Emanuela Manfredini, Giovanni P Gesu, Maria Cristina Patrosso

J Dermatol Sci· March 2016

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Stenting in paediatric and adult congenital heart diseases: A French multicentre study in the current era.
Sebastien Hascoët, Zakaria Jalal, Alban Baruteau, Lucia Mauri, Aurélie Chalard

Arch Cardiovasc Dis· December 2015

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Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
Letizia Straniero, Valeria Rimoldi, Giulia Soldà, Lucia Mauri, Emanuela Manfredini

J Hum Genet· September 2015

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Stents in paediatric and adult congenital interventional cardiac catheterization.
Sebastien Hascoët, Alban Baruteau, Zakaria Jalal, Lucia Mauri, Philippe Acar

Arch Cardiovasc Dis· May 2015

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SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
Lucia Mauri, Alessandra Franzoni, Manuela Scarcello, Stefano Sala, Livia Garavelli

Eur J Med Genet· February 2015

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Transcatheter closure of complex atrial septal defects is efficient under intracardiac echocardiographic guidance.
Anass Assaidi, Marion Sumian, Lucia Mauri, Julien Mancini, Caroline Ovaert

Arch Cardiovasc Dis· December 2014

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Percutaneous closure of a poorly tolerated post-transcatheter aortic valve implantation ventricular septal defect.
Lucia Mauri, Philippe Aldebert, Thomas Cuisset, Jacques Quilici, Alain Fraisse

Ann Thorac Surg· November 2014

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