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Items: 1 to 50 of 78

1.

COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M.

Clin Genet. 2019 Dec 3. doi: 10.1111/cge.13683. [Epub ahead of print]

PMID:
31794058
2.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A.

Sci Immunol. 2019 Nov 29;4(41). pii: eaax7965. doi: 10.1126/sciimmunol.aax7965.

PMID:
31784499
3.

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.

4.

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
5.

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.

6.

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.

7.

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.

8.

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.

9.

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
10.

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
11.

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.

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.

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
15.

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.

16.

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
17.

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

Ravasio V, Ritelli M, Legati A, Giacopuzzi E.

Bioinformatics. 2018 Sep 1;34(17):3038-3040. doi: 10.1093/bioinformatics/bty303.

PMID:
29668842
18.

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.

19.

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.

20.

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
21.

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.

22.

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.

23.

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
24.

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
25.

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.

26.

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.

27.

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
28.

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
29.

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
30.

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
31.

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
32.

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
33.

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
34.

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
35.

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.

Dordoni C, Ciaccio C, Santoro G, Venturini M, Cavallari U, Ritelli M, Colombi M.

Am J Med Genet A. 2017 Jan;173(1):200-206. doi: 10.1002/ajmg.a.37975. Epub 2016 Sep 12. Review.

PMID:
27615407
36.

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.

PLoS One. 2016 Aug 12;11(8):e0161347. doi: 10.1371/journal.pone.0161347. eCollection 2016.

37.

Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage.

Morotti A, Paciaroni M, Zini A, Silvestrelli G, Del Zotto E, Caso V, Dell'Acqua ML, Simone AM, Lanari A, Costa P, Poli L, De Giuli V, Gamba M, Ciccone A, Ritelli M, Di Castelnuovo A, Iacoviello L, Colombi M, Agnelli G, Grassi M, de Gaetano G, Padovani A, Pezzini A.

Stroke. 2016 Aug;47(8):2141-3. doi: 10.1161/STROKEAHA.116.013722. Epub 2016 Jun 21.

PMID:
27328700
38.

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

Németh CE, Marcolongo P, Gamberucci A, Fulceri R, Benedetti A, Zoppi N, Ritelli M, Chiarelli N, Colombi M, Willaert A, Callewaert BL, Coucke PJ, Gróf P, Nagy SK, Mészáros T, Bánhegyi G, Margittai É.

FEBS Lett. 2016 Jun;590(11):1630-40. doi: 10.1002/1873-3468.12204. Epub 2016 May 27.

39.

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

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

Am J Med Genet A. 2016 Aug;170(8):2031-8. doi: 10.1002/ajmg.a.37728. Epub 2016 May 5. Review.

PMID:
27149304
40.

A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.

Windpessl M, Ritelli M, Wallner M, Colombi M.

Am J Nephrol. 2016;43(4):245-50. doi: 10.1159/000445845. Epub 2016 Apr 27.

41.

Aortic rupture after thoracic endovascular repair in a patient with familial thoracic aortic aneurysm and dissections type 6 (FTAAD6).

Parisi R, Goffi L, Ritelli M, Marinucci L, Secco GG, Uguccioni L, Cocco G, Colombi M, Fattori R.

J Cardiovasc Surg (Torino). 2016 Jun;57(3):482-3. No abstract available.

PMID:
27094429
42.

Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. The Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy).

Pezzini A, 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, Musolino R, Bovi P, Tomelleri G, Di Castelnuovo A, Vandelli L, Ritelli M, Agnelli G, De Vito A, Pugliese N, Martini G, Lanari A, Ciccone A, Lodigiani C, Malferrari G, Del Zotto E, Morotti A, Costa P, Poli L, De Giuli V, Bonaiti S, La Spina P, Marcello N, Micieli G, de Gaetano G, Colombi M, Padovani A; Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy) Investigators.

J Neurol Neurosurg Psychiatry. 2016 Sep;87(9):924-9. doi: 10.1136/jnnp-2015-312736. Epub 2016 Mar 21.

PMID:
27003275
43.

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

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

Hum Mol Genet. 2015 Dec 1;24(23):6769-87. doi: 10.1093/hmg/ddv382. Epub 2015 Sep 16.

44.

Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6).

Parisi R, Goffi L, Ritelli M, Marinucci L, Secco GG, Uguccioni L, Cocco G, Colombi M, Fattori R.

J Cardiovasc Surg (Torino). 2015 Jul 27. [Epub ahead of print] No abstract available.

PMID:
26220220
45.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Colombi M, Dordoni C, Chiarelli N, Ritelli M.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Review.

PMID:
25821090
46.

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.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):43-53. doi: 10.1002/ajmg.c.31425. Epub 2015 Feb 5.

PMID:
25655071
47.

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.

Intern Emerg Med. 2015 Mar;10(2):165-70. doi: 10.1007/s11739-015-1187-7. Epub 2015 Jan 15. No abstract available.

PMID:
25589165
48.

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M, Venturini M, Calzavara-Pinton P, Colombi M.

Mol Genet Metab Rep. 2014 Nov 20;2:1-15. doi: 10.1016/j.ymgmr.2014.11.005. eCollection 2015 Mar.

49.

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Ritelli M, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, Monica MD, Scarano G, Santoro G, Russo MG, Calzavara-Pinton P, Milanesi O, Colombi M.

BMC Med Genet. 2014 Nov 6;15:122. doi: 10.1186/s12881-014-0122-5. Review.

50.

Connective tissue anomalies in patients with spontaneous cervical artery dissection.

Giossi A, Ritelli M, Costa P, Morotti A, Poli L, Del Zotto E, Volonghi I, Chiarelli N, Gamba M, Bovi P, Tomelleri G, Carletti M, Checcarelli N, Meneghetti G, Morra M, Chinaglia M, De Giuli V, Colombi M, Padovani A, Pezzini A.

Neurology. 2014 Nov 25;83(22):2032-7. doi: 10.1212/WNL.0000000000001030. Epub 2014 Oct 29.

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