M. van geel

发表

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

M. Peppelman, P. Jansen, H. Venselaar, 2018, Genetics in Medicine.

The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.

P. D. de Jong, R. Lyle, R. Frants, 1999, Genomics.

Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned.

J. Frank, M. van geel, M. V. van Steensel, 2007, The Journal of investigative dermatology.

Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.

P. Bauer, C. Schroeder, X. Schneider-Yin, 2015, Journal of hepatology.

Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X.

E. Sattler, O. Steinlein, M. Flaig, 2012, Acta dermato-venereologica.

A new locus‐specific database (LSDB) for mutations in the folliculin (FLCN) gene

S. Richard, M. Nahorski, E. Maher, 2010, Human mutation.

New mutations and an updated database for the patched‐1 (PTCH1) gene

A. Paulussen, P. Steijlen, K. Mosterd, 2018, Molecular genetics & genomic medicine.

Combined occurrence of filaggrin mutations and IL‐10 or IL‐13 polymorphisms predisposes to atopic dermatitis

P. Kuna, M. van geel, T. Hawro, 2011, Experimental dermatology.

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

M. Geel, P. Steijlen, I. van der Burgt, 2005, American journal of medical genetics. Part A.

Clouston syndrome can mimic pachyonychia congenita.

P. Steijlen, W. McLean, M. Jonkman, 2003, The Journal of investigative dermatology.

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness

P. Steijlen, H. Hamm, P. Martin, 2007, Journal of Medical Genetics.

Skin changes in oculo‐dento‐digital dysplasia are correlated with C‐terminal truncations of connexin 43

M. Geel, M. Vreeburg, M. van geel, 2007, American journal of medical genetics. Part A.

A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.

P. Steijlen, M. van geel, M. V. van Steensel, 2004, The Journal of investigative dermatology.

Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes

J. Frank, R. Foelster-Holst, M. van geel, 2011, Experimental dermatology.

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

P. Steijlen, P. Martin, M. van geel, 2011, The British journal of dermatology.

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

R. Frants, J. Hewitt, M. Geel, 2004, Journal of Medical Genetics.

Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma

P. Steijlen, J. Frank, K. Munte, 2016, Clinical and experimental dermatology.