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Items: 12

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.

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.

4.

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.

5.

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.

6.

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.

7.

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.

8.

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
9.

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
10.

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.

11.

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
12.

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.

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