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Items: 1 to 20 of 255

1.

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B.

Am J Med Genet A. 2005 Mar 1;133A(2):158-64. Review.

PMID:
15666309
2.

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.

3.

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.

Tosun A, Kurtgoz S, Dursun S, Bozkurt G.

Pediatr Neurol. 2014 Oct;51(4):566-9. doi: 10.1016/j.pediatrneurol.2014.06.020. Epub 2014 Jul 10.

PMID:
25266621
5.
6.

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
7.
8.

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

Voermans NC, van Engelen BG.

Neuromuscul Disord. 2008 Nov;18(11):906; author reply 907. doi: 10.1016/j.nmd.2008.05.016. Epub 2008 Sep 23. No abstract available.

PMID:
18815038
9.

Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice.

Takaluoma K, Hyry M, Lantto J, Sormunen R, Bank RA, Kivirikko KI, Myllyharju J, Soininen R.

J Biol Chem. 2007 Mar 2;282(9):6588-96. Epub 2006 Dec 29.

11.

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.

Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B.

Am J Med Genet A. 2004 Jan 1;124A(1):28-34. Review.

PMID:
14679583
12.

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
13.

A case of Ehlers Danlos syndrome type VI.

Salavoura K, Valari M, Kolialexi A, Mavrou A, Kitsiou S.

Genet Couns. 2006;17(3):291-4.

PMID:
17100196
14.

A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.

Walker LC, Marini JC, Grange DK, Filie J, Yeowell HN.

Mol Genet Metab. 1999 May;67(1):74-82.

PMID:
10329027
15.
16.

Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI.

Pasquali M, Still MJ, Vales T, Rosen RI, Evinger JD, Dembure PP, Longo N, Elsas LJ.

Proc Assoc Am Physicians. 1997 Jan;109(1):33-41.

PMID:
9010914
17.

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.

Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R.

Nat Genet. 1992 Nov;2(3):228-31.

PMID:
1345174
18.

An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.

Yeowell HN, Walker LC, Neumann LM.

Eur J Dermatol. 2005 Sep-Oct;15(5):353-8.

PMID:
16172044
19.

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
20.

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.

Walker LC, Overstreet MA, Willing MC, Marini JC, Cabral WA, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell HN.

Am J Med Genet A. 2004 Dec 1;131(2):155-62.

PMID:
15523625

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