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

X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritanceWIEACKER, P; ZIMMER, J; ROPERS, H.-H et al.Clinical genetics. 1985, Vol 28, Num 3, pp 238-242, issn 0009-9163Article

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

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)HOFFER, J. L; FRYSSIRA, H; KONSTANTINIDOU, A. E et al.Clinical genetics. 2013, Vol 83, Num 1, pp 92-95, issn 0009-9163, 4 p.Article

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH : cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genesWIRTH, J; NOTHWANG, H.-G; HAAF, T et al.Journal of medical genetics. 1999, Vol 36, Num 4, pp 271-278, issn 0022-2593Article

Complex FISH probes for the subtelomeric regions of all human chromosomes : comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apesKINGSLEY, K; WIRTH, J; VAN DER MAAREL, S et al.Cytogenetics and cell genetics. 1997, Vol 78, Num 1, pp 12-19, issn 0301-0171Article

An animal model for Norrie disease (ND) : gene targeting of the mouse ND geneBERGER, W; VAN DE POL, D; BÄCHNER, D et al.Human molecular genetics (Print). 1996, Vol 5, Num 1, pp 51-59, issn 0964-6906Article

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

Familial X-linked mental retardation and isolated growth hormone deficiency : Clinical and molecular findingsHAMEL, B. C. J; SMITS, A. P. T; OTTEN, B. J et al.American journal of medical genetics. 1996, Vol 64, Num 1, pp 35-41, issn 0148-7299Article

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

Brief report : reverse mutation in myotonic dystrophyBRUNNER, H. G; JANSEN, G; NILLESEN, W et al.The New England journal of medicine. 1993, Vol 328, Num 7, pp 476-480, issn 0028-4793Article

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1MARIMAN, E. C. M; GABREËLS-FESTEN, A. A. W. M; VAN BEERSUM, S. E. C et al.Human genetics. 1993, Vol 92, Num 1, pp 87-90, issn 0340-6717Article

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosomeBLEEKER-WAGEMAKERS, L. M; FRIEDRICH, U; GAL, A et al.Human genetics. 1985, Vol 71, Num 3, pp 211-214, issn 0340-6717Article

X-linked dominant Charcot-Marie-tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal XqGAL, A; MÜCKE, J; THEILE, H et al.Human genetics. 1985, Vol 70, Num 1, pp 38-42, issn 0340-6717Article

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