van Steensel M - Search Results

1

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.

van Steensel M, Smith FJ, Steijlen PM, Kluijt I, Stevens HP, Messenger A, Kremer H, Dunnill MG, Kennedy C, Munro CS, Doherty VR, McGrath JA, Covello SP, Coleman CM, Uitto J, McLean WH. van Steensel M, et al. Am J Hum Genet. 1999 Aug;65(2):413-9. doi: 10.1086/302506. Am J Hum Genet. 1999. PMID: 10417283 Free PMC article.

2

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Hamada T, et al. Among authors: van steensel ma. Hum Mol Genet. 2002 Apr 1;11(7):833-40. doi: 10.1093/hmg/11.7.833. Hum Mol Genet. 2002. PMID: 11929856

3

Paradominant inheritance, a hypothesis explaining occasional familial occurrence of sporadic syndromes.

Steijlen PM, van Steensel MA. Steijlen PM, et al. Among authors: van steensel ma. Am J Med Genet. 1999 Aug 6;85(4):359-60. doi: 10.1002/(sici)1096-8628(19990806)85:4<359::aid-ajmg10>3.0.co;2-v. Am J Med Genet. 1999. PMID: 10398260 Review.

4

A new type of pachyonychia congenita.

van Steensel MA, Smith FJ, Steijlen PM. van Steensel MA, et al. Eur J Dermatol. 2001 May-Jun;11(3):188-90. Eur J Dermatol. 2001. PMID: 11358721

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

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.

7

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.

van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M. van Steensel MA, et al. Among authors: van geel m. J Med Genet. 2005 Mar;42(3):e19. doi: 10.1136/jmg.2004.021030. J Med Genet. 2005. PMID: 15744029 Free PMC article. No abstract available.

8

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M. Irrthum A, et al. Among authors: van steensel ma. Am J Hum Genet. 2003 Jun;72(6):1470-8. doi: 10.1086/375614. Epub 2003 May 8. Am J Hum Genet. 2003. PMID: 12740761 Free PMC article.

9

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

10

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH. Cassidy AJ, et al. Among authors: van steensel ma, van der velden j, van geel m. Am J Hum Genet. 2005 Dec;77(6):909-17. doi: 10.1086/497707. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380904 Free PMC article.

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