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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 2
2005 1
2006 2
2007 4
2008 4
2009 2
2010 1
2011 4
2012 7
2013 7
2014 10
2015 11
2016 14
2017 13
2018 12
2019 17
2020 10
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2022 6
2023 5
2024 4

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129 results

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Page 1
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Among authors: colombi m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229
Ehlers-Danlos syndrome, classical type.
Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Bowen JM, et al. Among authors: colombi m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 Feb 13. Am J Med Genet C Semin Med Genet. 2017. PMID: 28192633 Free article. Review.
Age of onset of cerebral venous thrombosis: the BEAST study.
Ranjan R, Ken-Dror G, Martinelli I, Grandone E, Hiltunen S, Lindgren E, Margaglione M, Le Cam Duchez V, Bagan Triquenot A, Zedde M, Mancuso M, Ruigrok YM, Worrall B, Majersik JJ, Putaala J, Haapaniemi E, Zuurbier SM, Brouwer MC, Passamonti SM, Abbattista M, Bucciarelli P, Lemmens R, Pappalardo E, Costa P, Colombi M, Aguiar de Sousa D, Rodrigues S, Canhao P, Tkach A, Santacroce R, Favuzzi G, Arauz A, Colaizzo D, Spengos K, Hodge A, Ditta R, Han TS, Pezzini A, Coutinho JM, Thijs V, Jood K, Tatlisumak T, Ferro JM, Sharma P. Ranjan R, et al. Among authors: colombi m. Eur Stroke J. 2023 Mar;8(1):344-350. doi: 10.1177/23969873221148267. Epub 2023 Jan 6. Eur Stroke J. 2023. PMID: 37021156 Free PMC article.
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M. Fortugno P, et al. Among authors: colombi m. Eur J Hum Genet. 2023 May;31(5):596-601. doi: 10.1038/s41431-022-01279-4. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599937 Free PMC article.
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L, Ritelli M, Wischmeijer A, Majore S, Cinquina V, Fortugno P, Monetta R, Gigante L, Marfan Syndrome Study Group Tor Vergata University Hospital, Sangiuolo FC, Novelli G, Colombi M, Brancati F. Camerota L, et al. Among authors: colombi m. Genes (Basel). 2019 Sep 28;10(10):764. doi: 10.3390/genes10100764. Genes (Basel). 2019. PMID: 31569402 Free PMC article. Review.
COL6A5 variants in familial neuropathic chronic itch.
Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D; INGI Network; Cocca M, Doglioni C, Waxman SG, Dib-Hajj SD, Taiana MM, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G. Martinelli-Boneschi F, et al. Among authors: colombi m. Brain. 2017 Mar 1;140(3):555-567. doi: 10.1093/brain/aww343. Brain. 2017. PMID: 28073787
129 results