Colombi M - Search Results

1

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes.

Cazzato D, Castori M, Lombardi R, Caravello F, Bella ED, Petrucci A, Grammatico P, Dordoni C, Colombi M, Lauria G. Cazzato D, et al. Among authors: colombi m. Neurology. 2016 Jul 12;87(2):155-9. doi: 10.1212/WNL.0000000000002847. Epub 2016 Jun 15. Neurology. 2016. PMID: 27306637 Free PMC article.

2

Phenotypic correction of the defective fibronectin extracellular matrix of Ehlers-Danlos syndrome fibroblasts.

Barlati S, Moro L, Gardella R, Colombi M. Barlati S, et al. Among authors: colombi m. Cell Biol Int Rep. 1991 Dec;15(12):1183-94. doi: 10.1016/0309-1651(91)90090-6. Cell Biol Int Rep. 1991. PMID: 1802403

3

Correction of the defective extracellular matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone.

Moro L, Colombi M, Zoppi N, Ghinelli A, Barlati S. Moro L, et al. Among authors: colombi m. Cell Biol Int. 1994 Jan;18(1):29-37. doi: 10.1006/cbir.1994.1004. Cell Biol Int. 1994. PMID: 8186768

4

Effect of dexamethasone on the assembly of the matrix of fibronectin and on its receptors organization in Ehlers-Danlos syndrome skin fibroblasts.

Zoppi N, Ghinelli A, Gardella R, Barlati S, Colombi M. Zoppi N, et al. Among authors: colombi m. Cell Biol Int. 1998;22(7-8):499-508. doi: 10.1006/cbir.1998.0283. Cell Biol Int. 1998. PMID: 10452818

5

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.

Castori M, Valiante M, Ritelli M, Preziosi N, Colombi M, Paradisi M, Grammatico P. Castori M, et al. Among authors: colombi m. Am J Med Genet A. 2010 Aug;152A(8):2043-7. doi: 10.1002/ajmg.a.33490. Am J Med Genet A. 2010. PMID: 20635335 Review.

6

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Castori M, Ritelli M, Zoppi N, Molisso L, Chiarelli N, Zaccagna F, Grammatico P, Colombi M. Castori M, et al. Among authors: colombi m. Am J Med Genet A. 2012 May;158A(5):1164-9. doi: 10.1002/ajmg.a.35266. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488877

7

Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach.

Castori M, Morlino S, Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P. Castori M, et al. Among authors: colombi m. Am J Med Genet A. 2012 Aug;158A(8):2055-70. doi: 10.1002/ajmg.a.35483. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786715

8

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. Among authors: colombi m. 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.

9

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.

Dordoni C, Ritelli M, Venturini M, Chiarelli N, Pezzani L, Vascellaro A, Calzavara-Pinton P, Colombi M. Dordoni C, et al. Among authors: colombi m. Am J Med Genet A. 2013 May;161A(5):1143-7. doi: 10.1002/ajmg.a.35825. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23533212

10

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Among authors: colombi m. Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58. Orphanet J Rare Dis. 2013. PMID: 23587214 Free PMC article.

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