van Geel M - Search Results

1

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.

Rossel SVJ, Clabbers JMK, Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA, van Maarle MC, Vreeburg M, Bolling MC, van Geel M, Gostyński A. Rossel SVJ, et al. Among authors: van maarle mc, van den akker pc, van geel m. J Eur Acad Dermatol Venereol. 2023 Dec;37(12):e1405-e1409. doi: 10.1111/jdv.19340. Epub 2023 Jul 24. J Eur Acad Dermatol Venereol. 2023. PMID: 37458571 No abstract available.

2

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

3

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.

4

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

5

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

6

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.

7

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.

8

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.

9

Molecular genetics of hereditary hair and nail disease.

van Steensel MA, van Geel M, Steijlen PM. van Steensel MA, et al. Among authors: van geel m. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):52-60. doi: 10.1002/ajmg.c.30034. Am J Med Genet C Semin Med Genet. 2004. PMID: 15468149 Review.

10

A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma.

van Steensel MA, Spruijt L, van der Burgt I, Bladergroen RS, Vermeer M, Steijlen PM, van Geel M. van Steensel MA, et al. Among authors: van der burgt i, van geel m. Am J Med Genet A. 2005 Jan 15;132A(2):171-4. doi: 10.1002/ajmg.a.30412. Am J Med Genet A. 2005. PMID: 15551259

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