Hausser I - Search Results

1

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.

Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Adès LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapière CM, Nusgens BV. Colige A, et al. Among authors: hausser i. J Invest Dermatol. 2004 Oct;123(4):656-63. doi: 10.1111/j.0022-202X.2004.23406.x. J Invest Dermatol. 2004. PMID: 15373769 Free article.

2

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM. De Paepe A, et al. Among authors: hausser i. Am J Hum Genet. 1997 Mar;60(3):547-54. Am J Hum Genet. 1997. PMID: 9042913 Free PMC article.

3

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Giunta C, et al. Among authors: hausser i. Am J Med Genet. 2002 May 15;109(4):284-90. doi: 10.1002/ajmg.10373. Am J Med Genet. 2002. PMID: 11992482

4

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).

Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A. Malfait F, et al. Among authors: hausser i. Am J Med Genet A. 2004 Nov 15;131(1):18-28. doi: 10.1002/ajmg.a.30299. Am J Med Genet A. 2004. PMID: 15389701 Free article.

5

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis.

Akiyama M, Sakai K, Wolff G, Hausser I, McMillan JR, Sawamura D, Shimizu H. Akiyama M, et al. Among authors: hausser i. Br J Dermatol. 2006 Nov;155(5):1064-6. doi: 10.1111/j.1365-2133.2006.07434.x. Br J Dermatol. 2006. PMID: 17034544 No abstract available.

6

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, Coucke P, De Paepe A. Symoens S, et al. Among authors: hausser i. Hum Mutat. 2009 Feb;30(2):E395-403. doi: 10.1002/humu.20887. Hum Mutat. 2009. PMID: 18972565

7

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A. Malfait F, et al. Among authors: hausser i. Am J Hum Genet. 2013 Jun 6;92(6):935-45. doi: 10.1016/j.ajhg.2013.04.016. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664118 Free PMC article.

8

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F. Syx D, et al. Among authors: hausser i. Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Hum Mutat. 2015. PMID: 25703627 Review.

9

[Ehlers-Danlos syndrome--20 years experience with diagnosis and classification at the university skin clinic of Heidelberg].

Proske S, Hartschuh W, Enk A, Hausser I. Proske S, et al. Among authors: hausser i. J Dtsch Dermatol Ges. 2006 Apr;4(4):308-18. doi: 10.1111/j.1610-0387.2006.05958.x. J Dtsch Dermatol Ges. 2006. PMID: 16638060 German.

10

Diagnosis of Ehlers-Danlos syndrome: data deficiency still does not allow establishment of a complete history of the disease and its pathomechanisms.

Hausser I. Hausser I. Br J Dermatol. 2020 Mar;182(3):535-536. doi: 10.1111/bjd.18373. Epub 2019 Aug 20. Br J Dermatol. 2020. PMID: 31432500 No abstract available.

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