1 - 25 of 28 results for author:"van Geel M." in Literature citations
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| Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. Easton J.A., Donnelly S., Kamps M.A., Steijlen P.M., Martin P.E., Tadini G., Janssens R., Happle R., van Geel M., van Steensel M.A. J. Invest. Dermatol. 132:2184-2191(2012) · Mapped (3) |
| A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. van der Velden J.J., Jonkman M.F., McLean W.H., Hamm H., Steijlen P.M., van Steensel M.A., van Geel M. J. Dermatol. Sci. 65:74-76(2012) · Mapped (3) |
| Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. van Tuyll van Serooskerken A.M., Drogemoller B.I., Te Velde K., Bladergroen R.S., Steijlen P.M., Poblete-Gutierrez P., van Geel M., van Heerden C.J., Warnich L., Frank J. Br. J. Dermatol. 166:261-265(2012) · Mapped (10) |
| Combined occurrence of filaggrin mutations and IL-10 or IL-13 polymorphisms predisposes to atopic dermatitis. Lesiak A., Kuna P., Zakrzewski M., van Geel M., Bladergroen R.S., Przybylowska K., Stelmach I., Majak P., Hawro T., Sysa-Jedrzejowska A. et al. Exp. Dermatol. 20:491-495(2011) · Mapped (21) |
| Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. de Zwart-Storm E.A., Rosa R.F., Martin P.E., Foelster-Holst R., Frank J., Bau A.E., Zen P.R., Graziadio C., Paskulin G.A., Kamps M.A. et al. Exp. Dermatol. 20:408-412(2011) · Mapped (3) |
| A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis. Bolling M.C., Bladergroen R.S., van Steensel M.A., Willemsen M., Jonkman M.F., van Geel M. Br. J. Dermatol. 162:875-879(2010) · Mapped (7) |
| Phenotypic variability associated with WNT10A nonsense mutations. Van Geel M., Gattas M., Kesler Y., Tong P., Yan H., Tran K., Steijlen P.M., Murrell D.F., Van Steensel M.A. Br. J. Dermatol. 162:1403-1406(2010) |
| Novel missense mutations in the FOXC2 gene alter transcriptional activity. van Steensel M.A., Damstra R.J., Heitink M.V., Bladergroen R.S., Veraart J., Steijlen P.M., van Geel M. Hum. Mutat. 30:E1002-9(2009) · Mapped (1) |
| The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. van Steensel M.A., Oranje A.P., van der Schroeff J.G., Wagner A., van Geel M. Am. J. Med. Genet. A 149A:657-661(2009) · Mapped (1) |
| The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress. Verstraeten V.L., Caputo S., van Steensel M.A., Duband-Goulet I., Zinn-Justin S., Kamps M., Kuijpers H.J., Ostlund C., Worman H.J., Briede J.J. et al. J. Cell. Mol. Med. 13:959-971(2009) · Mapped (8) |
| Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Wen Y., Liu Y., Xu Y., Zhao Y., Hua R., Wang K., Sun M., Li Y., Yang S., Zhang X.J. et al. Nat. Genet. 41:228-233(2009) · UniProtKB (1) |
| Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene. Vreeburg M., Heitink M.V., Damstra R.J., Moog U., van Geel M., van Steensel M.A. Int. J. Dermatol. 47 Suppl 1:52-55(2008) · Mapped (1) |
| A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. de Zwart-Storm E.A., van Geel M., van Neer P.A., Steijlen P.M., Martin P.E., van Steensel M.A. Am. J. Pathol. 173:1113-1119(2008) · Mapped (3) |
| Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene. Badeloe S., Bladergroen R.S., Jonkman M.F., Burrows N.P., Steijlen P.M., Poblete-Gutierrez P., van Steensel M.A., van Geel M., Frank J. J. Dermatol. Sci. 51:139-143(2008) · Mapped (2) |
| A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. de Zwart-Storm E.A., Hamm H., Stoevesandt J., Steijlen P.M., Martin P.E., van Geel M., van Steensel M.A.M. J. Med. Genet. 45:161-166(2008) · UniProtKB (1) · Mapped (2) |
| Novel EBP gene mutations in Conradi-Hunermann-Happle syndrome. Steijlen P.M., van Geel M., Vreeburg M., Marcus-Soekarman D., Spaapen L.J., Castelijns F.C., Willemsen M., van Steensel M.A. Br. J. Dermatol. 157:1225-1229(2007) · Mapped (1) |
| Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Sandilands A., Terron-Kwiatkowski A., Hull P.R., O'Regan G.M., Clayton T.H., Watson R.M., Carrick T., Evans A.T., Liao H., Zhao Y. et al. Nat. Genet. 39:650-654(2007) · Mapped (10) |
| Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. Badeloe S., van Geel M., van Steensel M.A., Bastida J., Ferrando J., Steijlen P.M., Frank J., Poblete-Gutierrez P. Exp. Dermatol. 15:735-741(2006) · Mapped (2) |
| Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. van Steensel M.A., Vreeburg M., Peels C., van Ravenswaaij-Arts C.M., Bijlsma E., Schrander-Stumpel C.T., van Geel M. Exp. Dermatol. 15:731-734(2006) · Mapped (8) |
| A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Cassidy A.J., van Steensel M.A.M., Steijlen P.M., van Geel M., van der Velden J., Morley S.M., Terrinoni A., Melino G., Candi E., McLean W.H.I. Am. J. Hum. Genet. 77:909-917(2005) · UniProtKB (1) · Mapped (2) |
| A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. van Steensel M.A., Steijlen P.M., Bladergroen R.S., Vermeer M., van Geel M. J. Med. Genet. 42:E19-E19(2005) · UniProtKB (1) · Mapped (1) |
| FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. Rijkers T., Deidda G., van Koningsbruggen S., van Geel M., Lemmers R.J.L.F., van Deutekom J.C.T., Figlewicz D., Hewitt J.E., Padberg G.W., Frants R.R. et al. J. Med. Genet. 41:826-836(2004) · UniProtKB (3) |
| HID and KID syndromes are associated with the same connexin 26 mutation. van Geel M., van Steensel M.A.M., Kuester W., Hennies H.C., Happle R., Steijlen P.M., Koenig A. Br. J. Dermatol. 146:938-942(2002) · UniProtKB (1) |
| Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. van Geel M., Dickson M.C., Beck A.F., Bolland D.J., Frants R.R., van der Maarel S.M., de Jong P.J., Hewitt J.E. Genomics 79:210-217(2002) · UniProtKB (2) |
| A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes. van Geel M., Eichler E.E., Beck A.F., Shan Z., Haaf T., van der Maarel S.M., Frants R.R., de Jong P.J. Am. J. Hum. Genet. 70:269-278(2002) · UniProtKB (4) |