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Page 1
Mapping functional to morphological variation reveals the basis of regional extracellular matrix subversion and nerve invasion in pancreatic cancer.
Cancer Cell. 2024 Apr 8;42(4):662-681.e10. doi: 10.1016/j.ccell.2024.02.017. Epub 2024 Mar 21.
Cancer Cell. 2024.
PMID: 38518775
Genetics for understanding the clinical features of Shwachman-Diamond Syndrome.
Nacci L.
Nacci L.
Br J Haematol. 2019 Mar;184(5):710-711. doi: 10.1111/bjh.15726. Epub 2018 Dec 21.
Br J Haematol. 2019.
PMID: 30575022
Free article.
No abstract available.
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Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.
Valli R, De Paoli E, Nacci L, Frattini A, Pasquali F, Maserati E.
Valli R, et al. Among authors: nacci l.
Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26454. Epub 2017 Jan 28.
Pediatr Blood Cancer. 2017.
PMID: 28130858
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Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Minelli A, Nacci L, Valli R, Pietrocola G, Ramenghi U, Locatelli F, Brescia L, Nicolis E, Cipolli M, Danesino C.
Minelli A, et al. Among authors: nacci l.
Blood Cells Mol Dis. 2016 Sep;60:33-5. doi: 10.1016/j.bcmd.2016.06.007. Epub 2016 Jun 22.
Blood Cells Mol Dis. 2016.
PMID: 27519942
Free article.
No abstract available.
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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.
Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A, Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C, Minelli A.
Morini J, et al. Among authors: nacci l.
Br J Haematol. 2019 May;185(3):627-630. doi: 10.1111/bjh.15594. Epub 2018 Sep 10.
Br J Haematol. 2019.
PMID: 30198570
Free article.
No abstract available.
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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.
Nacci L, Danesino C, Sainati L, Longoni D, Poli F, Cipolli M, Perobelli S, Nicolis E, Cannioto Z, Morini J, Valli R, Pasquali F, Minelli A.
Nacci L, et al.
Br J Haematol. 2014 May;165(4):573-5. doi: 10.1111/bjh.12767. Epub 2014 Feb 1.
Br J Haematol. 2014.
PMID: 24484588
Free article.
No abstract available.
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Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
Nacci L, Valli R, Maria Pinto R, Zecca M, Cipolli M, Morini J, Cesaro S, Boveri E, Rosti V, Corti P, Ambroni M, Pasquali F, Danesino C, Maserati E, Minelli A.
Nacci L, et al.
Genes Chromosomes Cancer. 2017 Jan;56(1):51-58. doi: 10.1002/gcc.22401. Epub 2016 Sep 21.
Genes Chromosomes Cancer. 2017.
PMID: 27553422
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