A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)VAN WIJK, E; KRIEGER, E; KEMPERMAN, M. H et al.Journal of medical genetics. 2003, Vol 40, Num 12, pp 879-884, issn 0022-2593, 6 p.Article

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt diseaseGERBER, S; ROZET, J. M; VAN DE POL, T. J. R et al.Genomics (San Diego, Calif.). 1998, Vol 48, Num 1, pp 139-142, issn 0888-7543Article

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1VAN DER MAAREL, S. M; SCHOLTEN, I. H. J. M; HUBER, I et al.Human molecular genetics (Print). 1996, Vol 5, Num 7, pp 887-898, issn 0964-6906, 11 p.Article

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4DE KOK, Y. J. M; VOSSENAAR, E. R; THORPE, P et al.Human molecular genetics (Print). 1996, Vol 5, Num 9, pp 1229-1235, issn 0964-6906Article

Radiation hydrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1RÖHME, D; SIDEN, T; VAN DER MAAREL, S. M et al.Somatic cell and molecular genetics. 1994, Vol 20, Num 1, pp 1-10, issn 0740-7750Article

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patientsVAN BOKHOVEN, H; SCHWARTZ, M; WRIGHT, A et al.Human molecular genetics (Print). 1994, Vol 3, Num 7, pp 1047-1051, issn 0964-6906Article

Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresisVAN DE POL, T. J. R; CREMERS, F. P. M; BROHET, R. M et al.Nucleic acids research. 1990, Vol 18, Num 4, pp 725-731, issn 0305-1048, 7 p.Article

Two human γ-crystallin genes are linked and riddled with Alu-repeatsDEN DUNNEN, J. T; MOORMANN, R. J. M; CREMERS, F. P. M et al.Gene (Amsterdam). 1985, Vol 38, Num 1-3, pp 197-204, issn 0378-1119Article

Staining of proteoglycones in mouse lung alveoli. I. Ultrastructural localization of anionic sitesVAN KUPPEVELT, T. H. M. S. M; DOMEN, J. G. W; CREMERS, F. P. M et al.Histochemical journal. 1984, Vol 16, Num 6, pp 657-669, issn 0018-2214Article

Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2DEN HOLLANDER, A. I; VAN LITH-VERHOEVEN, J. J. C; KERSTEN, F. F. J et al.Journal of medical genetics. 2004, Vol 41, Num 9, pp 699-702, issn 0022-2593, 4 p.Article

Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridizationDEN HOLLANDER, A. I; VAN DRIEL, M. A; DE KOK, Y. J. M et al.Genomics (San Diego, Calif.). 1999, Vol 58, Num 3, pp 240-249, issn 0888-7543Article

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22HOLLANDER, A. I. D; VAN DER VELDE-VISSER, S. D; PINCKERS, A. J. L. G et al.Human genetics. 1999, Vol 104, Num 1, pp 73-76, issn 0340-6717Article

Familial idiopathic premature ovarian failure : an overrated and underestimated genetic disease?VAN KASTEREN, Y. M; HUNDSCHEID, R. D. L; SMITS, A. P. T et al.Human reproduction (Oxford. Print). 1999, Vol 14, Num 10, pp 2455-2459, issn 0268-1161Article

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)ROEPMAN, R; BAUER, D; ROSENBERG, T et al.Human molecular genetics (Print). 1996, Vol 5, Num 6, pp 827-834, issn 0964-6906, 7 p.Article

A high-resolution interval map of the q21 region of the human X chromosomePHILIPPE, C; ARNOULD, C; SLOAN, F et al.Genomics (San Diego, Calif.). 1995, Vol 27, Num 3, pp 539-543, issn 0888-7543Article

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4DE KOK, Y. J. M; VAN DER MAAREL, S. M; BITNER-GLINDZICZ, M et al.Science (Washington, D.C.). 1995, Vol 267, Num 5198, pp 685-688, issn 0036-8075Article

cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort proteinANDRES, D. A; SEABRA, M. C; BROWN, M. S et al.Cell (Cambridge). 1993, Vol 73, Num 6, pp 1091-1099, issn 0092-8674Article

Deletion of the DXS165 locus in patients with classical choroideremiaCREMERS, F. P. M; BRUNSMANN, F; VAN DE POL, T. J. R et al.Clinical genetics. 1987, Vol 32, Num 6, pp 421-423, issn 0009-9163Article

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndromeKALAY, E; DE BROUWER, A. P. M; BRUNNER, H. G et al.Journal of molecular medicine (Berlin. Print). 2005, Vol 83, Num 12, pp 1025-1032, issn 0946-2716, 8 p.Article

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCRCREMERS, F. P. M; VAN DE POL, D. J. R; PINCKERS, A. J. L. G et al.Human molecular genetics (Print). 1998, Vol 7, Num 3, pp 355-362, issn 0964-6906Article

cDNA cloning and chromosomal localization of the genes encoding the α- and β-subunits of human Rab geranylgeranyl transferase : The 3' end of the α-subunit gene overlaps with the transglutaminase 1 gene promoterVAN BOKHOVEN, H; RAWSON, R. B; MERKX, G. F. M et al.Genomics (San Diego, Calif.). 1996, Vol 38, Num 2, pp 133-140, issn 0888-7543Article

Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type IIBOKHOVEN, H. V; GENDEREN, C. V; POL, D. J. R. V. D et al.Genomics (San Diego, Calif.). 1994, Vol 19, Num 2, pp 385-387, issn 0888-7543Article

An autosomal homologue of the choroideremia gene colocalizes with the usher syndrome type II locus on the distal part of chromosome 1qCREMERS, F. P. M; MOLLOY, C. M; VAN DE POL, D. J. R et al.Human molecular genetics (Print). 1992, Vol 1, Num 2, pp 71-75, issn 0964-6906Article

Microdeletions in patients with Gusher-associated, X-linked mixed deafness (DFN3)BACH, I; BRUNNER, H. G; ROPERS, H.-H et al.American journal of human genetics. 1992, Vol 51, Num 1, pp 38-44, issn 0002-9297Article

Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome : possible involvement of an unstable pre-mutationTRAUPE, H; MÜLLER, D; ATHERTON, D et al.Human genetics. 1992, Vol 89, Num 6, pp 659-665, issn 0340-6717Article