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Items: 1 to 20 of 103

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.

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.

13.

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
14.

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.

15.

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.

16.

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
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.

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
19.

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
20.

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.

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