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Items: 1 to 20 of 172

1.

Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).

Uehara M, Kosho T, Yamamoto N, Takahashi HE, Shimakura T, Nakayama J, Kato H, Takahashi J.

Am J Med Genet A. 2018 Sep 8. doi: 10.1002/ajmg.a.40507. [Epub ahead of print]

PMID:
30195269
2.

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome.

Henneton P, Legrand A, Giunta C, Frank M.

BMJ Case Rep. 2018 Jul 6;2018. pii: bcr-2018-224423. doi: 10.1136/bcr-2018-224423.

PMID:
29982180
3.

A Retrospective 2D Morphometric Analysis of Adult Female Chiari Type I Patients with Commonly Reported and Related Conditions.

Eppelheimer MS, Houston JR, Bapuraj JR, Labuda R, Loth DM, Braun AM, Allen NJ, Heidari Pahlavian S, Biswas D, Urbizu A, Martin BA, Maher CO, Allen PA, Loth F.

Front Neuroanat. 2018 Jan 19;12:2. doi: 10.3389/fnana.2018.00002. eCollection 2018.

4.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Meester JAN, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys BL.

Ann Cardiothorac Surg. 2017 Nov;6(6):582-594. doi: 10.21037/acs.2017.11.03. Review.

5.

Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly.

Girit S, Senol E, Cag Y, Karatas O, Baysal T.

J Bronchology Interv Pulmonol. 2018 Jan;25(1):70-72. doi: 10.1097/LBR.0000000000000416.

PMID:
29261580
6.

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

van Dijk FS, Mancini GMS, Maugeri A, Cobben JM.

Eur J Med Genet. 2017 Oct;60(10):536-540. doi: 10.1016/j.ejmg.2017.07.011. Epub 2017 Jul 27.

PMID:
28757364
7.

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M.

Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15.

8.

Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report.

Aoki R, Srivatanakul K, Osada T, Hotta K, Sorimachi T, Matsumae M, Morisaki H.

Interv Neuroradiol. 2017 Apr;23(2):206-210. doi: 10.1177/1591019916686054. Epub 2017 Jan 23.

9.

Congenital Chylous Ascites and Ehlers-Danlos Syndrome Type VI.

Ermarth AK, Pohl J, Esty B, Sempler JK, Carey JC, O'Gorman MA.

ACG Case Rep J. 2016 Dec 21;3(4):e186. doi: 10.14309/crj.2016.159. eCollection 2016 Aug.

10.

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
11.

Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome.

Stern CM, Pepin MJ, Stoler JM, Kramer DE, Spencer SA, Stein CJ.

J Pediatr. 2017 Feb;181:261-266. doi: 10.1016/j.jpeds.2016.10.078. Epub 2016 Nov 28.

PMID:
27908650
12.

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.

Mazzella JM, Frank M, Collignon P, Langeois M, Legrand A, Jeunemaitre X, Albuisson J.

Clin Genet. 2017 Mar;91(3):458-462. doi: 10.1111/cge.12838. Epub 2016 Sep 13.

PMID:
27440102
13.

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
15.

Blunt aortic trauma in a patient with the Ehlers-Danlos syndrome type VI.

Yung MY, Murray J, Thompson EC.

J Surg Case Rep. 2016 Mar 7;2016(3). pii: rjw026. doi: 10.1093/jscr/rjw026.

16.

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

Haller G, Alvarado DM, Willing MC, Braverman AC, Bridwell KH, Kelly M, Lenke LG, Luhmann SJ, Gurnett CA, Dobbs MB.

J Bone Joint Surg Am. 2015 Sep 2;97(17):1411-7. doi: 10.2106/JBJS.O.00290.

17.

Complications associated with surgical repair of syndromic scoliosis.

Levy BJ, Schulz JF, Fornari ED, Wollowick AL.

Scoliosis. 2015 Apr 23;10:14. doi: 10.1186/s13013-015-0035-x. eCollection 2015.

18.

Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family.

Shi X, Lu Y, Wang Y, Zhang YA, Teng Y, Han W, Han Z, Li T, Chen M, Liu J, Fang F, Dou C, Ren X, Han J.

Intractable Rare Dis Res. 2015 Feb;4(1):49-53. doi: 10.5582/irdr.2014.01039.

19.

Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome.

Monthoux C, de Brot S, Jackson M, Bleul U, Walter J.

BMC Vet Res. 2015 Jan 31;11:12. doi: 10.1186/s12917-015-0318-8.

20.

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.

Abdalla EM, Rohrbach M, Bürer C, Kraenzlin M, El-Tayeby H, Elbelbesy MF, Nabil A, Giunta C.

Eur J Pediatr. 2015 Jan;174(1):105-12. doi: 10.1007/s00431-014-2429-9. Epub 2014 Oct 3.

PMID:
25277362

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