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Items: 1 to 50 of 249

1.

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.

Rymen D, Ritelli M, Zoppi N, Cinquina V, Giunta C, Rohrbach M, Colombi M.

Genes (Basel). 2019 Oct 25;10(11). pii: E843. doi: 10.3390/genes10110843.

2.

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Ritelli M, Rovati C, Venturini M, Chiarelli N, Cinquina V, Castori M, Colombi M.

Clin Genet. 2019 Oct 10. doi: 10.1111/cge.13653. [Epub ahead of print]

PMID:
31600821
3.

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients.

Angwin C, Brady AF, Colombi M, Ferguson DJP, Pollitt R, Pope FM, Ritelli M, Symoens S, Ghali N, van Dijk FS.

Genes (Basel). 2019 Sep 27;10(10). pii: E762. doi: 10.3390/genes10100762.

4.

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, Hospital MSSGTVU, Sangiuolo FC, Novelli G, Colombi M, Brancati F.

Genes (Basel). 2019 Sep 28;10(10). pii: E764. doi: 10.3390/genes10100764.

5.

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M.

Genes (Basel). 2019 Aug 21;10(9). pii: E631. doi: 10.3390/genes10090631.

6.

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes.

Chiarelli N, Ritelli M, Zoppi N, Colombi M.

Genes (Basel). 2019 Aug 12;10(8). pii: E609. doi: 10.3390/genes10080609. Review.

7.

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.

Laterza D, Ritelli M, Zini A, Colombi M, Dell'Acqua ML, Vandelli L, Bigliardi G, Verganti L, Vallone S, Vincenzi C, Rosafio F, Ciolli L, Calabrese O, Nichelli PF, Picchetto L.

Eur J Med Genet. 2019 Oct;62(10):103727. doi: 10.1016/j.ejmg.2019.103727. Epub 2019 Jul 18.

PMID:
31326520
8.

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L.

Hum Mutat. 2019 Oct;40(10):1886-1898. doi: 10.1002/humu.23834. Epub 2019 Jun 27.

PMID:
31250519
9.

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.

Ritelli M, Cammarata-Scalisi F, Cinquina V, Colombi M.

Mol Genet Genomic Med. 2019 Jul;7(7):e00735. doi: 10.1002/mgg3.735. Epub 2019 May 21.

10.

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.

Németh CE, Nemoda Z, Lőw P, Szabó P, Horváth EZ, Willaert A, Boel A, Callewaert BL, Coucke PJ, Colombi M, Bánhegyi G, Margittai É.

Oxid Med Cell Longev. 2019 Jan 13;2019:8156592. doi: 10.1155/2019/8156592. eCollection 2019.

11.

Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.

Copetti M, Morlino S, Colombi M, Grammatico P, Fontana A, Castori M.

Rheumatology (Oxford). 2019 Oct 1;58(10):1722-1730. doi: 10.1093/rheumatology/kez029.

PMID:
30783660
12.

Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.

Ritelli M, Cinquina V, Venturini M, Pezzaioli L, Formenti AM, Chiarelli N, Colombi M.

Genes (Basel). 2019 Feb 12;10(2). pii: E135. doi: 10.3390/genes10020135.

13.

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

Chiarelli N, Carini G, Zoppi N, Ritelli M, Colombi M.

PLoS One. 2019 Feb 4;14(2):e0211647. doi: 10.1371/journal.pone.0211647. eCollection 2019.

14.

Proteomic Landscape of Aldosterone-Producing Adenoma.

Swierczynska MM, Betz MJ, Colombi M, Dazert E, Jenö P, Moes S, Pfaff C, Glatz K, Reincke M, Beuschlein F, Donath MY, Hall MN.

Hypertension. 2019 Feb;73(2):469-480. doi: 10.1161/HYPERTENSIONAHA.118.11733.

PMID:
30580688
15.

Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome.

Formenti AM, Doga M, Frara S, Ritelli M, Colombi M, Banfi G, Giustina A.

Endocrine. 2019 Feb;63(2):225-230. doi: 10.1007/s12020-018-1822-y. Epub 2018 Dec 15.

PMID:
30554346
16.

Dual Inhibition of the Lactate Transporters MCT1 and MCT4 Is Synthetic Lethal with Metformin due to NAD+ Depletion in Cancer Cells.

Benjamin D, Robay D, Hindupur SK, Pohlmann J, Colombi M, El-Shemerly MY, Maira SM, Moroni C, Lane HA, Hall MN.

Cell Rep. 2018 Dec 11;25(11):3047-3058.e4. doi: 10.1016/j.celrep.2018.11.043.

17.

Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.

Morlino S, Dordoni C, Sperduti I, Clark CJ, Piedimonte C, Fontana A, Colombi M, Grammatico P, Copetti M, Castori M.

Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):25-34. doi: 10.1002/ajmg.b.32698. Epub 2018 Nov 23.

PMID:
30471081
18.

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M.

Balkan J Med Genet. 2018 Oct 29;21(1):47-52. doi: 10.2478/bjmg-2018-0009. eCollection 2018 Jun.

19.

Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder.

Piedimonte C, Penge R, Morlino S, Sperduti I, Terzani A, Giannini MT, Colombi M, Grammatico P, Cardona F, Castori M.

Am J Med Genet B Neuropsychiatr Genet. 2018 Sep;177(6):546-556. doi: 10.1002/ajmg.b.32646. Epub 2018 Aug 2.

PMID:
30070022
20.

Spectroscopic and Chemometric Comparison of Local River Sands with the Aggregate Component in Mortars from Ancient Roman Buildings Located in the X Regio Between the Livenza and Tagliamento Rivers, Northeast Italy.

De Lorenzi Pezzolo A, Colombi M, Mazzocchin GA.

Appl Spectrosc. 2018 Oct;72(10):1528-1537. doi: 10.1177/0003702818789140. Epub 2018 Jul 26.

PMID:
29972314
21.

Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy.

Costa P, Grassi M, Iacoviello L, Zedde M, Marcheselli S, Silvestrelli G, DeLodovici ML, Sessa M, Zini A, Paciaroni M, Azzini C, Gamba M, Del Sette M, Toriello A, Gandolfo C, Bonifati DM, Tassi R, Cavallini A, Chiti A, Calabrò RS, Grillo F, Bovi P, Tomelleri G, Di Castelnuovo A, Ritelli M, Agnelli G, De Vito A, Pugliese N, Martini G, Lodigiani C, Morotti A, Poli L, De Giuli V, Caria F, Cornali C, de Gaetano G, Colombi M, Padovani A, Pezzini A; Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) Investigators.

Neurology. 2018 Jul 17;91(3):e227-e235. doi: 10.1212/WNL.0000000000005814. Epub 2018 Jun 13.

PMID:
29898970
22.

Where did Roman masons get their material from? A preliminary DRIFTS/PCA investigation on mortar aggregates from X Regio buildings in the Veneto area (NE Italy) and their potential sources.

De Lorenzi Pezzolo A, Colombi M, Mazzocchin GA.

Environ Sci Pollut Res Int. 2018 Oct;25(29):28798-28807. doi: 10.1007/s11356-018-2202-0. Epub 2018 May 22.

PMID:
29785606
23.

Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.

Zoppi N, Chiarelli N, Ritelli M, Colombi M.

Int J Mol Sci. 2018 Mar 26;19(4). pii: E982. doi: 10.3390/ijms19040982. Review.

24.

The protein histidine phosphatase LHPP is a tumour suppressor.

Hindupur SK, Colombi M, Fuhs SR, Matter MS, Guri Y, Adam K, Cornu M, Piscuoglio S, Ng CKY, Betz C, Liko D, Quagliata L, Moes S, Jenoe P, Terracciano LM, Heim MH, Hunter T, Hall MN.

Nature. 2018 Mar 29;555(7698):678-682. doi: 10.1038/nature26140. Epub 2018 Mar 21.

25.

Insulin resistance causes inflammation in adipose tissue.

Shimobayashi M, Albert V, Woelnerhanssen B, Frei IC, Weissenberger D, Meyer-Gerspach AC, Clement N, Moes S, Colombi M, Meier JA, Swierczynska MM, Jenö P, Beglinger C, Peterli R, Hall MN.

J Clin Invest. 2018 Apr 2;128(4):1538-1550. doi: 10.1172/JCI96139. Epub 2018 Mar 12.

26.

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Morlino S, Castori M, Dordoni C, Cinquina V, Santoro G, Grammatico P, Venturini M, Colombi M, Ritelli M.

Eur J Hum Genet. 2018 Apr;26(4):582-586. doi: 10.1038/s41431-017-0079-x. Epub 2018 Feb 21.

27.

Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy).

Poli L, Grassi M, Zedde M, Marcheselli S, Silvestrelli G, Sessa M, Zini A, Paciaroni M, Azzini C, Gamba M, Toriello A, Tassi R, Giorli E, Calabrò RS, Ritelli M, De Vito A, Pugliese N, Martini G, Lanari A, Lodigiani C, Padroni M, De Giuli V, Caria F, Morotti A, Costa P, Strambo D, Corato M, Pascarella R, Del Sette M, Malferrari G, Colombi M, Padovani A, Pezzini A; Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) Investigators.

Thromb Haemost. 2018 Mar;118(3):572-580. doi: 10.1055/s-0038-1627454. Epub 2018 Feb 12.

PMID:
29433151
28.

Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain.

Filippini A, Bonini D, Giacopuzzi E, La Via L, Gangemi F, Colombi M, Barbon A.

Genes (Basel). 2018 Feb 8;9(2). pii: E79. doi: 10.3390/genes9020079.

29.

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

Chiarelli N, Carini G, Zoppi N, Ritelli M, Colombi M.

PLoS One. 2018 Jan 18;13(1):e0191220. doi: 10.1371/journal.pone.0191220. eCollection 2018.

30.

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Zoppi N, Chiarelli N, Binetti S, Ritelli M, Colombi M.

Biochim Biophys Acta Mol Basis Dis. 2018 Apr;1864(4 Pt A):1010-1023. doi: 10.1016/j.bbadis.2018.01.005. Epub 2018 Jan 5.

31.

mTORC2 Promotes Tumorigenesis via Lipid Synthesis.

Guri Y, Colombi M, Dazert E, Hindupur SK, Roszik J, Moes S, Jenoe P, Heim MH, Riezman I, Riezman H, Hall MN.

Cancer Cell. 2017 Dec 11;32(6):807-823.e12. doi: 10.1016/j.ccell.2017.11.011.

32.

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity.

Dordoni C, Gatti M, Venturini M, Zanca A, Cinquina V, Santoro G, Battocchio S, Calzavara-Pinton P, Ritelli M, Colombi M.

J Dermatol Sci. 2018 Feb;89(2):201-204. doi: 10.1016/j.jdermsci.2017.11.009. Epub 2017 Nov 22. Review. No abstract available.

PMID:
29175035
33.

Polarographic study on the presence of antibiotics in food.

Bottari E, Colombi M, De Bernardis C, Festa MR, Rampino V.

Nat Prod Res. 2018 Jul;32(13):1590-1599. doi: 10.1080/14786419.2017.1392951. Epub 2017 Oct 20.

PMID:
29052440
34.

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

Colombi M, Dordoni C, Cinquina V, Venturini M, Ritelli M.

Eur J Med Genet. 2018 Jan;61(1):17-20. doi: 10.1016/j.ejmg.2017.10.005. Epub 2017 Oct 9.

PMID:
29024828
35.

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Ritelli M, Dordoni C, Cinquina V, Venturini M, Calzavara-Pinton P, Colombi M.

Orphanet J Rare Dis. 2017 Sep 7;12(1):153. doi: 10.1186/s13023-017-0704-3.

36.

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

Gamberucci A, Marcolongo P, Németh CE, Zoppi N, Szarka A, Chiarelli N, Hegedűs T, Ritelli M, Carini G, Willaert A, Callewaert BL, Coucke PJ, Benedetti A, Margittai É, Fulceri R, Bánhegyi G, Colombi M.

Int J Mol Sci. 2017 Aug 22;18(8). pii: E1820. doi: 10.3390/ijms18081820.

37.

Exploring the feasibility and usability of the experience sampling method to examine the daily lives of patients with acquired brain injury.

Lenaert B, Colombi M, van Heugten C, Rasquin S, Kasanova Z, Ponds R.

Neuropsychol Rehabil. 2019 Jun;29(5):754-766. doi: 10.1080/09602011.2017.1330214. Epub 2017 May 31.

PMID:
28562164
38.

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

Ritelli M, Palit A, Giacopuzzi E, Inamadar AC, Dordoni C, Mujja A, Murgude MS, Colombi M.

J Dermatol Sci. 2017 Oct;88(1):141-143. doi: 10.1016/j.jdermsci.2017.04.010. Epub 2017 Apr 29. No abstract available.

PMID:
28499588
39.

Arterial tortuosity in patients with spontaneous cervical artery dissection.

Giossi A, Mardighian D, Caria F, Poli L, De Giuli V, Costa P, Morotti A, Gamba M, Gilberti N, Ritelli M, Colombi M, Sessa M, Grassi M, Padovani A, Gasparotti R, Pezzini A.

Neuroradiology. 2017 Jun;59(6):571-575. doi: 10.1007/s00234-017-1836-9. Epub 2017 May 11.

PMID:
28497262
40.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli M.

Clin Genet. 2017 Dec;92(6):624-631. doi: 10.1111/cge.13052. Epub 2017 Sep 4.

PMID:
28485813
41.

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M.

Clin Genet. 2018 Jan;93(1):126-133. doi: 10.1111/cge.13032. Epub 2017 Aug 21.

PMID:
28386937
42.

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.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.

PMID:
28306229
43.

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

Morlino S, Dordoni C, Sperduti I, Venturini M, Celletti C, Camerota F, Colombi M, Castori M.

Am J Med Genet A. 2017 Apr;173(4):914-929. doi: 10.1002/ajmg.a.38106. Epub 2017 Mar 7.

PMID:
28266107
44.

Ehlers-Danlos syndrome, classical type.

Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 Feb 13. Review.

PMID:
28192633
45.

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara-Pinton P, Ritelli M.

Am J Med Genet A. 2017 Feb;173(2):524-530. doi: 10.1002/ajmg.a.38035. Epub 2016 Nov 7. Review.

PMID:
28102596
46.

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.

Brain. 2017 Mar 1;140(3):555-567. doi: 10.1093/brain/aww343.

PMID:
28073787
47.

Syrosingopine sensitizes cancer cells to killing by metformin.

Benjamin D, Colombi M, Hindupur SK, Betz C, Lane HA, El-Shemerly MY, Lu M, Quagliata L, Terracciano L, Moes S, Sharpe T, Wodnar-Filipowicz A, Moroni C, Hall MN.

Sci Adv. 2016 Dec 23;2(12):e1601756. doi: 10.1126/sciadv.1601756. eCollection 2016 Dec.

48.

Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.

Cotlarciuc I, Marjot T, Khan MS, Hiltunen S, Haapaniemi E, Metso TM, Putaala J, Zuurbier SM, Brouwer MC, Passamonti SM, Bucciarelli P, Pappalardo E, Patel T, Costa P, Colombi M, Canhão P, Tkach A, Santacroce R, Margaglione M, Favuzzi G, Grandone E, Colaizzo D, Spengos K, Arauz A, Hodge A, Ditta R, Debette S, Zedde M, Pare G, Ferro JM, Thijs V, Pezzini A, Majersik JJ, Martinelli I, Coutinho JM, Tatlisumak T, Sharma P; ISGC (International Stroke Genetics Consortium) and BEAST investigators.

BMJ Open. 2016 Nov 22;6(11):e012351. doi: 10.1136/bmjopen-2016-012351.

49.

Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.

Ciaccio C, Dordoni C, Ritelli M, Colombi M.

Cytogenet Genome Res. 2016;150(1):40-45. doi: 10.1159/000452724. Epub 2016 Nov 17. Review.

PMID:
27852077
50.

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.

Am J Med Genet A. 2017 Jan;173(1):169-176. doi: 10.1002/ajmg.a.38004. Epub 2016 Oct 14.

PMID:
27739212

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