Publications by authors named "Sandra Perobelli"

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Improved quality of life in cystic fibrosis patients observed up to 36 months after starting Elexacaftor/Tezacaftor/Ivacaftor treatment.
Buniotto Francesca, Tridello Gloria, De Scolari Antonella, Meneghelli Ilaria, Pintani Emily, Perobelli Sandra

J Patient Rep Outcomes· May 2025

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A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.
Simone Cesaro, Anna Pegoraro, Laura Sainati, Vincenzina Lucidi, Enza Montemitro, Sandra Perobelli

J Pediatr· April 2020

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Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old.
Marco Cipolli, Gloria Tridello, Alessio Micheletto, Sandra Perobelli, Emily Pintani

BMJ Open· January 2019

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Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.
Sandra Perobelli, Franco Alessandrini, Giada Zoccatelli, Elena Nicolis, Alberto Beltramello

Neuroimage Clin· January 2016

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Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
Lucia Nacci, Cesare Danesino, Laura Sainati, Daniela Longoni, Furio Poli, Sandra Perobelli

Br J Haematol· May 2014

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Incidence of Shwachman-Diamond syndrome.
Antonella Minelli, Elena Nicolis, Zemira Cannioto, Daniela Longoni, Sandra Perobelli

Pediatr Blood Cancer· December 2012

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Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients.
Sandra Perobelli, Elena Nicolis, Baroukh Maurice Assael, Marco Cipolli

Am J Med Genet A· March 2012

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An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests.
Carlo Castellani, Sandra Perobelli, Vera Bianchi, Manuela Seia, Paola Melotti

Am J Med Genet A· April 2011

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Inconclusive cystic fibrosis neonatal screening results: long-term psychosocial effects on parents.
Sandra Perobelli, Luisa Zanolla, Anna Tamanini, Paolo Rizzotti, Baroukh Maurice Assael

Acta Paediatr· December 2009

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