Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 138

1.

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT.

Clin Genet. 2012 Aug;82(2):121-30. doi: 10.1111/j.1399-0004.2011.01758.x. Epub 2011 Aug 24.

2.

The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation.

Hatamochi A, Hamada T, Yoshino M, Hashimoto T.

Gene. 2014 Mar 15;538(1):199-203. doi: 10.1016/j.gene.2014.01.033. Epub 2014 Jan 17. Erratum in: Gene. 2014 Apr 25;540(1):130.

PMID:
24440294
3.

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U.

Am J Med Genet. 1997 Oct 3;72(1):94-105.

PMID:
9295084
4.

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

Melis D, Cappuccio G, Ginocchio VM, Minopoli G, Valli M, Corradi M, Andria G.

Ital J Pediatr. 2012 Nov 16;38:65. doi: 10.1186/1824-7288-38-65.

5.
6.

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

Rohrbach M, Vandersteen A, Yiş U, Serdaroglu G, Ataman E, Chopra M, Garcia S, Jones K, Kariminejad A, Kraenzlin M, Marcelis C, Baumgartner M, Giunta C.

Orphanet J Rare Dis. 2011 Jun 23;6:46. doi: 10.1186/1750-1172-6-46.

7.

Clinical features of Ehlers-Danlos syndrome.

Yen JL, Lin SP, Chen MR, Niu DM.

J Formos Med Assoc. 2006 Jun;105(6):475-80.

8.

Ehlers-Danlos syndrome type VII: phenotype and genotype.

Lehmann HW, Mundlos S, Winterpacht A, Brenner RE, Zabel B, Müller PK.

Arch Dermatol Res. 1994;286(8):425-8.

PMID:
7864655
9.

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Nicholls AC, Oliver JE, McCarron S, Harrison JB, Greenspan DS, Pope FM.

J Med Genet. 1996 Nov;33(11):940-6. Erratum in: J Med Genet 1997 Jan;334(1):87.

10.

The Ehlers-Danlos syndromes.

Yeowell HN, Pinnell SR.

Semin Dermatol. 1993 Sep;12(3):229-40. Review.

PMID:
8217561
11.

Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B.

J Bone Joint Surg Am. 1999 Feb;81(2):225-38. Review.

PMID:
10073586
12.

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A.

Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78.

13.
14.
15.

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.

Symoens S, Malfait F, Vlummens P, Hermanns-Lê T, Syx D, De Paepe A.

PLoS One. 2011;6(5):e20121. doi: 10.1371/journal.pone.0020121. Epub 2011 May 17.

16.

Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

Yiş U, Dirik E, Chambaz C, Steinmann B, Giunta C.

Neuromuscul Disord. 2008 Mar;18(3):210-4. Epub 2007 Dec 26.

PMID:
18155911
17.

[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects].

Germain D.

Ann Dermatol Venereol. 1995;122(4):187-204. Review. French.

PMID:
8526413
18.

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A.

Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355.

PMID:
20842734
19.

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH.

Am J Hum Genet. 2004 May;74(5):917-30. Epub 2004 Apr 9.

20.

Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases.

Hendriks AG, Voermans NC, Schalkwijk J, Hamel BC, van Rossum MM.

Clin Dysmorphol. 2012 Jan;21(1):15-8. doi: 10.1097/MCD.0b013e32834c4bb7.

PMID:
21959861
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk