M C Bonaglia
Overview
Explore the profile of M C Bonaglia including associated specialties, affiliations and a list of published articles.
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18
Citations
524
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Recent Articles
1.
Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani G, Novara F, et al.
Clin Genet
. 2017 May;
93(3):545-556.
PMID: 28556904
Whole exome sequencing (WES) has made the identification of causative SNVs/InDels associated with rare Mendelian conditions increasingly accessible. Incorporation of softwares allowing CNVs detection into the WES bioinformatics pipelines may...
2.
Cagliani R, Fumagalli M, Biasin M, Piacentini L, Riva S, Pozzoli U, et al.
Hum Genet
. 2010 Sep;
128(6):577-88.
PMID: 20811909
The human TRIM5 genes encodes a retroviral restriction factor (TRIM5α). Evolutionary analyses of this gene in mammals have revealed a complex and multifaceted scenario, suggesting that TRIM5 has been the...
3.
van Bon B, Koolen D, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, et al.
J Med Genet
. 2008 Jan;
45(6):346-54.
PMID: 18178631
Background: Patients with a microscopically visible deletion of the distal part of the long arm of chromosome 1 have a recognisable phenotype, including mental retardation, microcephaly, growth retardation, a distinct...
4.
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, et al.
J Med Genet
. 2007 Sep;
44(12):750-62.
PMID: 17766364
Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) were screened. All cases had been interpreted as "balanced" by conventional...
5.
Ciccone R, Mattina T, Giorda R, Bonaglia M, Rocchi M, Pramparo T, et al.
J Med Genet
. 2006 May;
43(5):e19.
PMID: 16648372
Molecular definition at the BAC level of an 8p dicentric chromosome and an 8p deleted chromosome is reported in a patient with two different cell lines. The dicentric, which differed...
6.
Bonaglia M, Giorda R, Mani E, Aceti G, Anderlid B, Baroncini A, et al.
J Med Genet
. 2005 Nov;
43(10):822-8.
PMID: 16284256
Introduction: The 22q13.3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. We...
7.
Giorda R, Cerritello A, Bonaglia M, Bova S, Lanzi G, Repetti E, et al.
J Med Genet
. 2004 Jun;
41(6):e71.
PMID: 15173237
No abstract available.
8.
Aldred M, Sanford R, Thomas N, Barrow M, Wilson L, Brueton L, et al.
J Med Genet
. 2004 Jun;
41(6):433-9.
PMID: 15173228
No abstract available.
9.
Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia M, Sironi M, et al.
Neuromuscul Disord
. 2003 Dec;
13(10):788-95.
PMID: 14678801
Dysferlin, the protein product of the dysferlin gene (DYSF), has been shown to have a role in calcium-induced membrane fusion and repair. Dysferlin is absent or drastically reduced in patients...
10.
Bonaglia M, Giorda R, Cavallini A, Pramparo T, Rocchi M, Borgatti R, et al.
J Med Genet
. 2003 Aug;
40(8):e94.
PMID: 12920086
No abstract available.