Dordoni C[au] - Search Results

Year	Number of Results
2012	1
2013	3
2014	5
2015	4
2016	7
2017	9
2018	5
2019	2
2020	1
2021	1
2022	2
2023	0

1

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. Colombi M, et al. Among authors: dordoni c. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821090 Review.

2

Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.

Dordoni C, Prefumo F, Iascone M, Pinelli L, Palumbo G, Bondioni MP, Savoldi G, Donzelli C, Sartori E, Valente EM, Izzi C. Dordoni C, et al. Prenat Diagn. 2019 Jul;39(8):652-655. doi: 10.1002/pd.5494. Epub 2019 Jul 2. Prenat Diagn. 2019. PMID: 31158925 Review. No abstract available.

3

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

Ciaccio C, Dordoni C, Ritelli M, Colombi M. Ciaccio C, et al. Among authors: dordoni c. Cytogenet Genome Res. 2016;150(1):40-45. doi: 10.1159/000452724. Epub 2016 Nov 17. Cytogenet Genome Res. 2016. PMID: 27852077 Review.

4

Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype.

Izzi C, Dordoni C, Delbarba E, Mazza C, Savoldi G, Econimo L, Cortinovis R, Zeni L, Martin E, Alberici F, Scolari F. Izzi C, et al. Among authors: dordoni c. Kidney Int Rep. 2022 Jan 8;7(4):895-898. doi: 10.1016/j.ekir.2021.12.027. eCollection 2022 Apr. Kidney Int Rep. 2022. PMID: 35497784 Free PMC article. No abstract available.

5

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. Dordoni C, et al. J Dermatol Sci. 2018 Feb;89(2):201-204. doi: 10.1016/j.jdermsci.2017.11.009. Epub 2017 Nov 22. J Dermatol Sci. 2018. PMID: 29175035 Review. No abstract available.

6

Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.

Delbarba E, Econimo L, Dordoni C, Martin E, Mazza C, Savoldi G, Alberici F, Scolari F, Izzi C. Delbarba E, et al. Among authors: dordoni c. J Nephrol. 2022 Mar;35(2):645-652. doi: 10.1007/s40620-021-01131-w. Epub 2021 Aug 6. J Nephrol. 2022. PMID: 34357571

7

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: dordoni c. Brain. 2017 Mar 1;140(3):555-567. doi: 10.1093/brain/aww343. Brain. 2017. PMID: 28073787

8

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.

Castori M, Morlino S, Dordoni C, Celletti C, Camerota F, Ritelli M, Morrone A, Venturini M, Grammatico P, Colombi M. Castori M, et al. Among authors: dordoni c. Am J Med Genet A. 2012 Sep;158A(9):2176-82. doi: 10.1002/ajmg.a.35506. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847925 Review.

9

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. Dordoni C, et al. Am J Med Genet A. 2016 Aug;170(8):2031-8. doi: 10.1002/ajmg.a.37728. Epub 2016 May 5. Am J Med Genet A. 2016. PMID: 27149304 Review.

10

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. Dordoni C, et al. Am J Med Genet A. 2017 Jan;173(1):200-206. doi: 10.1002/ajmg.a.37975. Epub 2016 Sep 12. Am J Med Genet A. 2017. PMID: 27615407 Review.

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