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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

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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

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

Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21BACH, I; ROBINSON, D; THOMAS, N et al.Human genetics. 1992, Vol 89, Num 6, pp 620-624, issn 0340-6717Article

Cloning of a gene that is rearranged in patients with choroideraemiaCREMERS, F. P. M; VAN DE POL, D. J. R; VAN KERKHOFF, L. P. M et al.Nature (London). 1990, Vol 347, Num 6294, pp 674-677, issn 0028-0836, 4 p.Article

Staining of proteoglycans in mouse lung alveoli. II. Characterization of the cuprolinic blue-positive, anionic sitesVAN KUPPEVELT, T. H. M. S. M; CREMERS, F. P. M; DOMEN, J. G. W et al.Histochemical journal. 1984, Vol 16, Num 6, pp 671-686, issn 0018-2214Article

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated populationYZER, S; VAN DEN BORN, L. I; SCHUIL, J et al.Journal of medical genetics. 2003, Vol 40, Num 9, pp 709-713, issn 0022-2593, 5 p.Article

Non-syndromal autosomal dominant hearing impairment : ongoing phenotypical characterization of genotypesBOM, S. J. H; KUNST, H. P. M; HUYGEN, P. L. M et al.British journal of audiology. 1999, Vol 33, Num 5, pp 335-348, issn 0300-5364Conference Paper

Positional cloning of the gene for X-linked retinitis pigmentosa 2SCHWAHN, U; LENZNER, S; PINCKERS, A. J. L. G et al.Nature genetics. 1998, Vol 19, Num 4, pp 327-332, issn 1061-4036Article

Assignment of H7365 (C9orf2) to human chromosome band 9q31 by somatic cell hybrid analysis and fluorescence in situ hybridizationEIB, D. W; MERKX, G. F. M; MARTENS, G. J. M et al.Cytogenetics and cell genetics. 1998, Vol 81, Num 3-4, pp 180-181, issn 0301-0171Conference Paper

Genetic fine mapping of the gene for recessive Stargardt diseaseHOYNG, C. B; POPPELAARS, F; VAN DE POL, T. J. R et al.Human genetics. 1996, Vol 98, Num 4, pp 500-504, issn 0340-6717Article

Positional cloning of the gene for X-linked retinitis pigmentosa 3 : homology with the guanine-nucleotide-exchange factor RCC1ROEPMAN, R; VAN DUIJNHOVEN, G; CREMERS, F. P. M et al.Human molecular genetics (Print). 1996, Vol 5, Num 7, pp 1035-1042, issn 0964-6906, 7 p.Article