M A M van Steensel

Summary

Affiliation: University Hospital Maastricht
Country: The Netherlands

Publications

  1. van Steensel M, Spruijt L, van der Burgt I, Bladergroen R, Vermeer M, Steijlen P, et al. A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A. 2005;132A:171-4 pubmed
    ..This is predicted to lead to the production of a slightly truncated protein with 46 incorrect amino acids in the C-terminal cytoplasmic loop (C260fsX307). This novel mutation may explain the presence of skin symptoms. ..
  2. van Steensel M, Steijlen P, Bladergroen R, Vermeer M, van Geel M. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet. 2005;42:e19 pubmed
  3. van Steensel M, Vreeburg M, Peels C, van Ravenswaaij Arts C, Bijlsma E, Schrander Stumpel C, et al. Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. Exp Dermatol. 2006;15:731-4 pubmed
    ..To our knowledge, our patients are the first Dutch to be analysed. The syndrome seems to be genetically homogeneous. We discuss the pertinent nosology of the syndrome. ..
  4. van Steensel M, Verstraeten V, Frank J, Kelleners Smeets N, Poblete Gutierrez P, Marcus Soekarman D, et al. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. J Invest Dermatol. 2007;127:588-93 pubmed
    ..Renal microscopic oncocytosis in BHD is considered as a precursor to malignant kidney tumors and may likewise be the result of haplo-insufficiency, with somatic second-hit mutations or LOH giving rise to malignancy later in life...
  5. van Steensel M, van Geel M, Parren L, Schrander Stumpel C, Marcus Soekarman D. Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. Exp Dermatol. 2008;17:362-5 pubmed
    ..It has been suggested that these conditions represent a phenotypical spectrum associated with aberrant TGF-beta signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS. ..

Locale

Detail Information

Publications5

  1. van Steensel M, Spruijt L, van der Burgt I, Bladergroen R, Vermeer M, Steijlen P, et al. A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A. 2005;132A:171-4 pubmed
    ..This is predicted to lead to the production of a slightly truncated protein with 46 incorrect amino acids in the C-terminal cytoplasmic loop (C260fsX307). This novel mutation may explain the presence of skin symptoms. ..
  2. van Steensel M, Steijlen P, Bladergroen R, Vermeer M, van Geel M. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet. 2005;42:e19 pubmed
  3. van Steensel M, Vreeburg M, Peels C, van Ravenswaaij Arts C, Bijlsma E, Schrander Stumpel C, et al. Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. Exp Dermatol. 2006;15:731-4 pubmed
    ..To our knowledge, our patients are the first Dutch to be analysed. The syndrome seems to be genetically homogeneous. We discuss the pertinent nosology of the syndrome. ..
  4. van Steensel M, Verstraeten V, Frank J, Kelleners Smeets N, Poblete Gutierrez P, Marcus Soekarman D, et al. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. J Invest Dermatol. 2007;127:588-93 pubmed
    ..Renal microscopic oncocytosis in BHD is considered as a precursor to malignant kidney tumors and may likewise be the result of haplo-insufficiency, with somatic second-hit mutations or LOH giving rise to malignancy later in life...
  5. van Steensel M, van Geel M, Parren L, Schrander Stumpel C, Marcus Soekarman D. Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. Exp Dermatol. 2008;17:362-5 pubmed
    ..It has been suggested that these conditions represent a phenotypical spectrum associated with aberrant TGF-beta signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS. ..