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Results: 16

1.

Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).

Bui C, Talhaoui I, Chabel M, Mulliert G, Coughtrie MW, Ouzzine M, Fournel-Gigleux S.

FEBS Lett. 2010 Sep 24;584(18):3962-8. doi: 10.1016/j.febslet.2010.08.001. Epub 2010 Aug 6.

PMID:
20691685
[PubMed - indexed for MEDLINE]
Free Article
2.

Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.

Furukawa K, Okajima T.

Biochim Biophys Acta. 2002 Dec 19;1573(3):377-81. Review.

PMID:
12417421
[PubMed - indexed for MEDLINE]
Free Article
3.

[XGalT-1 involved in the synthesis of glyosaminoglycans of proteoglycans and Ehlers-Danlos syndrome (progeroid type)].

Furukawa K, Okajima T, Nakamura Y.

Tanpakushitsu Kakusan Koso. 2003 Jun;48(8 Suppl):1152-7. Review. Japanese. No abstract available.

PMID:
12807023
[PubMed - indexed for MEDLINE]
4.

The Ehlers-Danlos syndromes.

Yeowell HN, Pinnell SR.

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

PMID:
8217561
[PubMed - indexed for MEDLINE]
5.

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

Yeowell HN, Walker LC.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):212-24. Review.

PMID:
11001813
[PubMed - indexed for MEDLINE]
6.

Genetic defects in proteoglycan biosynthesis.

Quentin-Hoffmann E, Harrach B, Robenek H, Kresse H.

Padiatr Padol. 1993;28(1):37-41. Review.

PMID:
8446427
[PubMed - indexed for MEDLINE]
7.

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

Germain D.

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

PMID:
8526413
[PubMed - indexed for MEDLINE]
8.

The clinical presentation of Ehlers-Danlos syndrome.

Lawrence EJ.

Adv Neonatal Care. 2005 Dec;5(6):301-14. Review.

PMID:
16338669
[PubMed - indexed for MEDLINE]
9.

Molecular genetics in classic Ehlers-Danlos syndrome.

Malfait F, De Paepe A.

Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):17-23. Review.

PMID:
16278879
[PubMed - indexed for MEDLINE]
10.

[Molecular basis of the classical type of Ehlers-Danlos syndrome].

Wieczorek P, Chlubek D.

Wiad Lek. 2002;55(5-6):332-7. Review. Polish.

PMID:
12235701
[PubMed - indexed for MEDLINE]
11.

Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV.

Milewicz DM.

Curr Opin Cardiol. 1998 May;13(3):198-204. Review.

PMID:
9649943
[PubMed - indexed for MEDLINE]
12.

Vascular Ehlers-Danlos syndrome.

Germain DP, Herrera-Guzman Y.

Ann Genet. 2004 Jan-Mar;47(1):1-9. Review.

PMID:
15127738
[PubMed - indexed for MEDLINE]
13.

Ehlers-Danlos syndromes and Marfan syndrome.

Callewaert B, Malfait F, Loeys B, De Paepe A.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. Review.

PMID:
18328988
[PubMed - indexed for MEDLINE]
14.

Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.

Byers PH.

J Invest Dermatol. 1994 Nov;103(5 Suppl):47S-52S. Review.

PMID:
7963684
[PubMed - indexed for MEDLINE]
15.

[Ehlers-Danlos syndrome].

Brinckmann J, Behrens P, Brenner R, Bätge B, Tronnier M, Wolff HH.

Hautarzt. 1999 Apr;50(4):257-65. Review. German.

PMID:
10354917
[PubMed - indexed for MEDLINE]
16.

Modifications of the glycosaminoglycan-linkage region of proteoglycans: phosphorylation and sulfation determine the activity of the human beta1,4-galactosyltransferase 7 and beta1,3-glucuronosyltransferase I.

Gulberti S, Lattard V, Fondeur M, Jacquinet JC, Mulliert G, Netter P, Magdalou J, Ouzzine M, Fournel-Gigleux S.

ScientificWorldJournal. 2005 Jul 12;5:510-4. Review. No abstract available.

PMID:
16075146
[PubMed - indexed for MEDLINE]
Free Article

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