van Steensel MA - Search Results

1

Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.

de Zwart-Storm EA, Rosa RF, Martin PE, Foelster-Holst R, Frank J, Bau AE, Zen PR, Graziadio C, Paskulin GA, Kamps MA, van Geel M, van Steensel MA. de Zwart-Storm EA, et al. Among authors: van steensel ma, van geel m. Exp Dermatol. 2011 May;20(5):408-12. doi: 10.1111/j.1600-0625.2010.01222.x. Epub 2011 Mar 17. Exp Dermatol. 2011. PMID: 21410767

2

The molecular basis of hair growth.

van Steensel MA, van Geel M, Steiljen PM. van Steensel MA, et al. Among authors: van geel m. Eur J Dermatol. 2001 Jul-Aug;11(4):348-52. Eur J Dermatol. 2001. PMID: 11399543 Review.

3

Mal de Meleda without mutations in the ARS coding sequence.

van Steensel MA, van Geel MV, Steijlen PM. van Steensel MA, et al. Among authors: van geel mv. Eur J Dermatol. 2002 Mar-Apr;12(2):129-32. Eur J Dermatol. 2002. PMID: 11872406

4

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

van Steensel MA, van Geel M, Nahuys M, Smitt JH, Steijlen PM. van Steensel MA, et al. Among authors: van geel m. J Invest Dermatol. 2002 Apr;118(4):724-7. doi: 10.1046/j.1523-1747.2002.01735.x. J Invest Dermatol. 2002. PMID: 11918723 Free article.

5

HID and KID syndromes are associated with the same connexin 26 mutation.

van Geel M, van Steensel MA, Küster W, Hennies HC, Happle R, Steijlen PM, König A. van Geel M, et al. Among authors: van steensel ma. Br J Dermatol. 2002 Jun;146(6):938-42. doi: 10.1046/j.1365-2133.2002.04893.x. Br J Dermatol. 2002. PMID: 12072059

6

New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C.

Van Steensel MA, Van Geel M, Steijlen PM. Van Steensel MA, et al. Among authors: van geel m. Br J Dermatol. 2002 Sep;147(3):575-81. doi: 10.1046/j.1365-2133.2002.04840.x. Br J Dermatol. 2002. PMID: 12207605

7

Connexin 30.3 (GJB4) is not required for normal skin function in humans.

van Geel M, van Steensel MA, Steijlen PM. van Geel M, et al. Among authors: van steensel ma. Br J Dermatol. 2002 Dec;147(6):1275-7. doi: 10.1046/j.1365-2133.2002.05000_9.x. Br J Dermatol. 2002. PMID: 12452892 No abstract available.

8

Clouston syndrome can mimic pachyonychia congenita.

van Steensel MA, Jonkman MF, van Geel M, Steijlen PM, McLean WH, Smith FJ. van Steensel MA, et al. Among authors: van geel m. J Invest Dermatol. 2003 Nov;121(5):1035-8. doi: 10.1046/j.1523-1747.2003.12527.x. J Invest Dermatol. 2003. PMID: 14708603 Free article.

9

Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene.

Steijlen PM, van Steensel MA, Jansen BJ, Blokx W, van de Kerkhof PC, Happle R, van Geel M. Steijlen PM, et al. Among authors: van steensel ma, van de kerkhof pc, van geel m. J Invest Dermatol. 2004 May;122(5):1321-4. doi: 10.1111/j.0022-202X.2003.22302.x. J Invest Dermatol. 2004. PMID: 15140237 Free article. No abstract available.

10

A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.

van Steensel MA, Steijlen PM, Bladergroen RS, Hoefsloot EH, van Ravenswaaij-Arts CM, van Geel M. van Steensel MA, et al. Among authors: van ravenswaaij arts cm, van geel m. J Invest Dermatol. 2004 Aug;123(2):291-3. doi: 10.1111/j.0022-202X.2004.23204.x. J Invest Dermatol. 2004. PMID: 15245427 Free article.

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