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Author/Creator Nacci, Lucia

1. Absence of acquired copy number neutral loss of heterozygosity (CN‐LOH) of chromosome 7 in a series of 10 patients with Shwachman–Diamond syndrome. (1st February 2014)

Authors:
Nacci, Lucia; Danesino, Cesare; Sainati, Laura; Longoni, Daniela; Poli, Furio; Cipolli, Marco; Perobelli, Sandra; Nicolis, Elena; Cannioto, Zemira; Morini, Jacopo; Valli, Roberto; Pasquali, Francesco; Minelli, Antonella
Journal:
British journal of haematology
Issue:
Volume 165:Number 4(2014:May)
Page Start:
573
Record Type:
Journal Article
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4. Parental origin of the deletion del(20q) in Shwachman‐Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene. Issue 1 (21st September 2016)

Authors:
Nacci, Lucia; Valli, Roberto; Maria Pinto, Rita; Zecca, Marco; Cipolli, Marco; Morini, Jacopo; Cesaro, Simone; Boveri, Emanuela; Rosti, Vittorio; Corti, Paola; Ambroni, Maura; Pasquali, Francesco; Danesino, Cesare; Maserati, Emanuela; Minelli, Antonella
Journal:
Genes, chromosomes & cancer
Issue:
Volume 56:Issue 1(2017:Jan.)
Page Start:
51
Record Type:
Journal Article
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5. Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations. (10th September 2018)

Authors:
Morini, Jacopo; Nacci, Lucia; Babini, Gabriele; Cesaro, Simone; Valli, Roberto; Ottolenghi, Andrea; Nicolis, Elena; Pintani, Emily; Maserati, Emanuela; Cipolli, Marco; Danesino, Cesare; Scotti, Claudia; Minelli, Antonella
Journal:
British journal of haematology
Issue:
Volume 185:Number 3(2019)
Page Start:
627
Record Type:
Journal Article
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