The recombinant DNA revolution: implications for diagnosis and prevention of inherited diseaseROPERS, H.-H; WIERINGA, B.European journal of obstetrics, gynecology, and reproductive biology. 1989, Vol 32, Num 1, pp 15-23, issn 0301-2115Conference Paper

Report of the committee on the constitution of chromosome 19ROPERS, H. H; PERICAK-VANCE, M. A.Cytogenetics and cell genetics. 1990, Vol 55, Num 1-4, pp 218-228, issn 0301-0171, 11 p.Conference Paper

Cloning and characterization of UXT, a novel gene in human Xp11, which is widely and abundantly expressed in tumor tissueSCHRÖER, A; SCHNEIDER, S; ROPERS, H.-H et al.Genomics (San Diego, Calif.). 1999, Vol 56, Num 3, pp 340-343, issn 0888-7543Article

Molecular cytogenetic characterisation of a complex 46,XY, t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndromeBORCK, G; WIRTH, J; HARDT, T et al.Journal of medical genetics. 2001, Vol 38, Num 2, pp 117-120, issn 0022-2593Article

Towards identification of individual homologous chromosomes: comparative genomic hybridization and spectral karyotyping discriminate between paternal and maternal euchromatin in Mus musculus × M. spretus interspecific hybridsHARDT, T; HIMMELBAUER, H; MANN, W et al.Cytogenetics and cell genetics. 1999, Vol 86, Num 3-4, pp 187-193, issn 0301-0171Article

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosaKIRSCHNER, R; ROSENBERG, T; SCHULTZ-HEIENBROK, R et al.Human molecular genetics (Print). 1999, Vol 8, Num 8, pp 1571-1578, issn 0964-6906Article

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationYNTEMA, H. G; VAN DEN HELM, B; PANDER, H.-J et al.Genomics (San Diego, Calif.). 1999, Vol 62, Num 3, pp 332-343, issn 0888-7543Article

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor geneKREMER, H; KRAAIJ, R; THEMMEN, A. P. N et al.Nature genetics. 1995, Vol 9, Num 2, pp 160-164, issn 1061-4036Article

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 geneDE KOK, Y. J. M; MERKX, G. F. M; VAN DER MAAREL, S. M et al.Human molecular genetics (Print). 1995, Vol 4, Num 11, pp 2145-2150, issn 0964-6906Article

Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal familiesBITNER-GLINDZICZ, M; DE KOK, Y; SUMMERS, D et al.Journal of medical genetics. 1994, Vol 31, Num 12, pp 916-921, issn 0022-2593Article

No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissuesJANSEN, G; BARTOLOMEI, M; KALSCHEUER, V et al.Human molecular genetics (Print). 1993, Vol 2, Num 8, pp 1221-1227, issn 0964-6906Article

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious pubertyKREMER, H; MARIMAN, E; BRUNNER, H. G et al.Human molecular genetics (Print). 1993, Vol 2, Num 11, pp 1779-1783, issn 0964-6906Article

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencingVAN DEN HURK, J. A. J. M; VAN DE POL, T. J. R; ROPERS, H.-H et al.American journal of human genetics. 1992, Vol 50, Num 6, pp 1195-1202, issn 0002-9297Article

Three FRLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2MOLLOY, C. M; VAN DE POL, T. J. R; BROHET, R. M et al.Nucleic acids research. 1992, Vol 20, Num 6, issn 0305-1048, p. 1434Article

Mutations in the candidate gene for Norrie diseaseBERGER, W; VAN DE POL, D; WARBURG, M et al.Human molecular genetics (Print). 1992, Vol 1, Num 7, pp 461-465, issn 0964-6906Article

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabasesCREMERS, F. P. M; SANKILA, E.-M; DE LA CHAPELLE, A et al.American journal of human genetics. 1990, Vol 47, Num 4, pp 622-628, issn 0002-9297, 7 p.Article

Cloning of the breakpoints of a deletion asociated with choroideremiaCREMERS, F. P. M; BRUNSMANN, F; BERGER, W et al.Human genetics. 1990, Vol 86, Num 1, pp 61-64, issn 0340-6717Article

Localization of the gene for X-linked Alport's syndromeBRUNNER, H; SCHRODER, C; VAN BENNEKOM, C et al.Kidney international. 1988, Vol 34, Num 4, pp 507-510, issn 0085-2538Article

Regional localization of the human factor IX gene by molecular hybridizationCHANCE, P. F; DYER, K. A; KURACHI, K et al.Human genetics. 1983, Vol 65, Num 2, pp 207-208, issn 0340-6717Article

Hypergonadotropic hypogonadism in a patient with inv ins (2;4)TZSCHACH, A; RAMEL, C; ULLMANN, R et al.International journal of andrology (Print). 2009, Vol 32, Num 3, pp 226-230, issn 0105-6263, 5 p.Article

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashionBLAGITKO, N; MERGENTHALER, S; SCHULZ, U et al.Human molecular genetics (Print). 2000, Vol 9, Num 11, pp 1587-1595, issn 0964-6906Article

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

A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28HAMEL, B. C. J; KREMER, H; WESBY-VAN SWAAY, E et al.American journal of medical genetics. 1996, Vol 64, Num 1, pp 131-133, issn 0148-7299Article

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