Castori M - Search Results

1

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M. Micale L, et al. Among authors: castori m. Genes (Basel). 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967. Genes (Basel). 2019. PMID: 31775249 Free PMC article.

2

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: castori m. Am J Med Genet A. 2007 Dec 15;143A(24):2937-43. doi: 10.1002/ajmg.a.32092. Am J Med Genet A. 2007. PMID: 18000908

3

Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients.

Castori M, Camerota F, Celletti C, Danese C, Santilli V, Saraceni VM, Grammatico P. Castori M, et al. Am J Med Genet A. 2010 Mar;152A(3):556-64. doi: 10.1002/ajmg.a.33231. Am J Med Genet A. 2010. PMID: 20140961

4

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.

Castori M, Morlino S, Dordoni C, Celletti C, Camerota F, Ritelli M, Morrone A, Venturini M, Grammatico P, Colombi M. Castori M, et al. Am J Med Genet A. 2012 Sep;158A(9):2176-82. doi: 10.1002/ajmg.a.35506. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847925 Review.

5

Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): an updated critique.

Castori M. Castori M. G Ital Dermatol Venereol. 2013 Feb;148(1):13-36. G Ital Dermatol Venereol. 2013. PMID: 23407074 Review.

6

Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Castori M, Morlino S, Celletti C, Ghibellini G, Bruschini M, Grammatico P, Blundo C, Camerota F. Castori M, et al. Am J Med Genet A. 2013 Dec;161A(12):2989-3004. doi: 10.1002/ajmg.a.36315. Epub 2013 Nov 6. Am J Med Genet A. 2013. PMID: 24254847 Review.

7

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigrees.

Castori M, Dordoni C, Valiante M, Sperduti I, Ritelli M, Morlino S, Chiarelli N, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M. Castori M, et al. Am J Med Genet A. 2014 Dec;164A(12):3010-20. doi: 10.1002/ajmg.a.36805. Epub 2014 Oct 22. Am J Med Genet A. 2014. PMID: 25338840

8

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Castori M, Pascolini G, Parisi V, Sana ME, Novelli A, Nürnberg P, Iascone M, Grammatico P. Castori M, et al. Am J Med Genet A. 2015 Apr;167A(4):842-51. doi: 10.1002/ajmg.a.36983. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708316

9

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

Chiarelli N, Carini G, Zoppi N, Dordoni C, Ritelli M, Venturini M, Castori M, Colombi M. Chiarelli N, et al. Among authors: castori m. PLoS One. 2016 Aug 12;11(8):e0161347. doi: 10.1371/journal.pone.0161347. eCollection 2016. PLoS One. 2016. PMID: 27518164 Free PMC article.

10

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M. Ritelli M, et al. Among authors: castori m. Am J Med Genet A. 2017 Jan;173(1):169-176. doi: 10.1002/ajmg.a.38004. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739212

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