Van Steensel MA - Search Results

1

Further delineation of the hypotrichosis-deafness syndrome.

Van Steensel MA, Van Geel M, Steijlen PM. Van Steensel MA, et al. Among authors: van geel m. Eur J Dermatol. 2005 Nov-Dec;15(6):437-8. Eur J Dermatol. 2005. PMID: 16280295

2

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

3

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

4

A new type of erythrokeratoderma.

van Steensel MA, van Geel M, Steijlen PM. van Steensel MA, et al. Among authors: van geel m. Br J Dermatol. 2005 Jan;152(1):155-8. doi: 10.1111/j.1365-2133.2005.06319.x. Br J Dermatol. 2005. PMID: 15656818

5

Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype.

van Steensel MA, Vreeburg M, Steijlen PM, de Die-Smulders C. van Steensel MA, et al. Am J Med Genet A. 2005 Dec 1;139A(2):127-30. doi: 10.1002/ajmg.a.30988. Am J Med Genet A. 2005. PMID: 16278892

6

A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.

de Zwart-Storm EA, van Geel M, Veysey E, Burge S, Cooper S, Steijlen PM, Martin PE, van Steensel MA. de Zwart-Storm EA, et al. Among authors: van steensel ma, van geel m. Br J Dermatol. 2011 Jan;164(1):197-9. doi: 10.1111/j.1365-2133.2010.10058.x. Br J Dermatol. 2011. PMID: 20854437

7

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

8

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.

9

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.

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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