Colombi M - Search Results

1

Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

Castori M, Colombi M. Castori M, et al. Among authors: colombi m. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):1-5. doi: 10.1002/ajmg.c.31432. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821089

2

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.

3

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

4

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

5

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.

6

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

7

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Castori M, Morlino S, Ritelli M, Brancati F, De Bernardo C, Colombi M, Grammatico P. Castori M, et al. Among authors: colombi m. Am J Med Genet A. 2014 Feb;164A(2):528-34. doi: 10.1002/ajmg.a.36301. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311540 Review.

8

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. Among authors: colombi m. 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

9

Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

Pieroni A, Castori M, Caso P, Di Bernardini E, De Michele M, Ritelli M, Colombi M, Toni D. Pieroni A, et al. Among authors: colombi m. Intern Emerg Med. 2015 Mar;10(2):165-70. doi: 10.1007/s11739-015-1187-7. Epub 2015 Jan 15. Intern Emerg Med. 2015. PMID: 25589165 No abstract available.

10

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Castori M, Dordoni C, Morlino S, Sperduti I, Ritelli M, Valiante M, Chiarelli N, Zanca A, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M. Castori M, et al. Among authors: colombi m. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):43-53. doi: 10.1002/ajmg.c.31425. Epub 2015 Feb 5. Am J Med Genet C Semin Med Genet. 2015. PMID: 25655071

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