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    Results: 1 to 20 of 93

    1.

    Treatment of a patient with vertebral and subclavian aneurysms in the setting of a TGFBR2 mutation.

    Sylvan J, Greenberg RK, Mastracci TM, Eagleton MJ, Moran R.

    J Vasc Surg. 2013 Apr;57(4):1116-9. doi: 10.1016/j.jvs.2012.09.067. Epub 2013 Jan 9.

    PMID:
    23312833
    [PubMed - indexed for MEDLINE]
    2.

    Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

    Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE, McDonnell NB.

    J Clin Endocrinol Metab. 2013 Feb;98(2):E379-87. doi: 10.1210/jc.2012-3148. Epub 2013 Jan 2.

    PMID:
    23284009
    [PubMed - indexed for MEDLINE]
    3.

    Measuring regularity of human postural sway using approximate entropy and sample entropy in patients with Ehlers-Danlos syndrome hypermobility type.

    Rigoldi C, Cimolin V, Camerota F, Celletti C, Albertini G, Mainardi L, Galli M.

    Res Dev Disabil. 2013 Feb;34(2):840-6. doi: 10.1016/j.ridd.2012.11.007. Epub 2012 Dec 12.

    PMID:
    23246558
    [PubMed - indexed for MEDLINE]
    4.

    Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.

    Jeong J, Walker JM, Wang F, Park JG, Palmer AE, Giunta C, Rohrbach M, Steinmann B, Eide DJ.

    Proc Natl Acad Sci U S A. 2012 Dec 18;109(51):E3530-8. doi: 10.1073/pnas.1211775110. Epub 2012 Dec 3.

    PMID:
    23213233
    [PubMed - indexed for MEDLINE]
    Free Article
    5.

    Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

    Masuno M, Watanabe A, Naing BT, Shimada T, Fujimoto W, Ninomiya S, Ueda Y, Kadota K, Kotaka T, Kondo E, Yamanouchi Y, Inoue M, Ouchi K, Kuroki Y.

    Congenit Anom (Kyoto). 2012 Dec;52(4):207-10. doi: 10.1111/j.1741-4520.2011.00353.x.

    PMID:
    23181496
    [PubMed - indexed for MEDLINE]
    6.

    Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome.

    Gerrits KH, Voermans NC, de Haan A, van Engelen BG.

    Muscle Nerve. 2013 Jan;47(1):96-104. doi: 10.1002/mus.23482. Epub 2012 Nov 21.

    PMID:
    23169204
    [PubMed - indexed for MEDLINE]
    7.

    Video capsule endoscopy findings in Ehlers-Danlos syndrome with recurrent gastrointestinal bleeding.

    Kishikawa H, Nishida J, Takarabe S, Arahata K, Ito A, Miyoshi J, Kaida S, Hibi T.

    Endoscopy. 2012;44 Suppl 2 UCTN:E416. doi: 10.1055/s-0032-1325774. Epub 2012 Nov 20. No abstract available.

    PMID:
    23169043
    [PubMed - indexed for MEDLINE]
    8.

    Laparoscopic management of colonic complications in Ehlers-Danlos syndrome type IV.

    Duthie G, Singh M, Jester I.

    J Pediatr Surg. 2012 Nov;47(11):e1-3. doi: 10.1016/j.jpedsurg.2012.06.021.

    PMID:
    23164021
    [PubMed - indexed for MEDLINE]
    9.

    Low bone mass in Ehlers-Danlos syndrome.

    Theodorou SJ, Theodorou DJ, Kakitsubata Y, Adams JE.

    Intern Med. 2012;51(22):3225-6. Epub 2012 Nov 15. No abstract available.

    PMID:
    23154741
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    Women with Ehlers-Danlos syndrome experience low oral health-related quality of life.

    Berglund B, Björck E.

    J Orofac Pain. 2012 Fall;26(4):307-14.

    PMID:
    23110270
    [PubMed - indexed for MEDLINE]
    11.

    Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review.

    Burcharth J, Rosenberg J.

    Dig Surg. 2012;29(4):349-57. doi: 10.1159/000343738. Epub 2012 Oct 22. Review.

    PMID:
    23095510
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Dermal ultrastructure in low Beighton score members of 17 families with hypermobile-type Ehlers-Danlos syndrome.

    Hermanns-Lê T, Reginster MA, Piérard-Franchimont C, Delvenne P, Piérard GE, Manicourt D.

    J Biomed Biotechnol. 2012;2012:878107. doi: 10.1155/2012/878107. Epub 2012 Oct 3.

    PMID:
    23091361
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

    Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS.

    Gene. 2012 Dec 15;511(2):447-50. doi: 10.1016/j.gene.2012.09.022. Epub 2012 Sep 23.

    PMID:
    23010198
    [PubMed - indexed for MEDLINE]
    14.

    Spontaneous brachial pseudo-aneurysm in a 12-year-old with kyphoscoliosis-type Ehlers-Danlos Syndrome.

    Gok E, Goksel OS, Alpagut U, Dayioglu E.

    Eur J Vasc Endovasc Surg. 2012 Nov;44(5):482-4. doi: 10.1016/j.ejvs.2012.08.004. Epub 2012 Sep 14.

    PMID:
    22981642
    [PubMed - indexed for MEDLINE]
    15.

    Pain, balance, activity, and participation in children with hypermobility syndrome.

    Schubert-Hjalmarsson E, Öhman A, Kyllerman M, Beckung E.

    Pediatr Phys Ther. 2012 Winter;24(4):339-44. doi: 10.1097/PEP.0b013e318268e0ef.

    PMID:
    22965207
    [PubMed - indexed for MEDLINE]
    16.

    Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome.

    Whitaker JK, Alexander P, Chau DY, Tint NL.

    BMC Ophthalmol. 2012 Sep 3;12:47. doi: 10.1186/1471-2415-12-47.

    PMID:
    22943506
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Respiratory complications of Ehlers-Danlos syndrome type IV.

    Hatake K, Morimura Y, Kudo R, Kawashima W, Kasuda S, Kuniyasu H.

    Leg Med (Tokyo). 2013 Jan;15(1):23-7. doi: 10.1016/j.legalmed.2012.07.005. Epub 2012 Aug 30.

    PMID:
    22940417
    [PubMed - indexed for MEDLINE]
    18.

    Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012.

    Mayer K, Kennerknecht I, Steinmann B.

    Eur J Hum Genet. 2013 Jan;21(1). doi: 10.1038/ejhg.2012.162. Epub 2012 Aug 15. No abstract available.

    PMID:
    22892533
    [PubMed - indexed for MEDLINE]
    19.

    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.

    Am J Med Genet A. 2012 Sep;158A(9):2176-82. doi: 10.1002/ajmg.a.35506. Epub 2012 Jul 27. Review.

    PMID:
    22847925
    [PubMed - indexed for MEDLINE]
    20.

    Relationship between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

    Celletti C, Galli M, Cimolin V, Castori M, Albertini G, Camerota F.

    Res Dev Disabil. 2012 Nov-Dec;33(6):1914-8. doi: 10.1016/j.ridd.2012.06.018. Epub 2012 Jul 21.

    PMID:
    22819599
    [PubMed - indexed for MEDLINE]

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