Amplification of a highly polymorphic VNTR segment by the polymerase chain reactionHORN, G. T; RICHARDS, B; KLINGER, K. W et al.Nucleic acids research. 1989, Vol 17, Num 5, issn 0305-1048, 2140 [1 p.]Article

Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset diseaseWATNICK, T; PHAKDEEKITCHAROEN, B; JOHNSON, A et al.American journal of human genetics. 1999, Vol 65, Num 6, pp 1561-1571, issn 0002-9297Article

Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosisKLINGER, K. W; WINQVIST, R; GRZESCHIK, K.-H et al.Proceedings of the National Academy of Sciences of the United States of America. 1987, Vol 84, Num 23, pp 8548-8552, issn 0027-8424Article

Three RFLPs are detected by an alpha spectrin genomic cloneHOFFMAN, N; STANISLOVITIS, P; WATKINS, P. C et al.Nucleic acids research. 1987, Vol 15, Num 11, issn 0305-1048, 4696Article

Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization : clinical experience with 4,500 specimensWARD, B. E; GERSEN, S. L; CARELLI, M. P et al.American journal of human genetics. 1993, Vol 52, Num 5, pp 854-865, issn 0002-9297Article

Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral bloodBIANCHI, D. W; MAHR, A; ZICKWOLF, G. K et al.Human genetics. 1992, Vol 90, Num 4, pp 368-370, issn 0340-6717Article

Rapid prenatal diagnosis by fluorescent in situ hybridization of chorionic villi : an adjunct to long-term culture and karyotypeEVANS, M. I; KLINGER, K. W; ISADA, N. B et al.American journal of obstetrics and gynecology. 1992, Vol 167, Num 6, pp 1522-1525, issn 0002-9378Article

Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I dataBIANCHI, D. W; SIMPSON, J. L; HAHN, S et al.Prenatal diagnosis. 2002, Vol 22, Num 7, pp 609-615, issn 0197-3851Article

Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1IBRAGHIMOV-BESKROVNAYA, O; BUKANOV, N. O; DONOHUE, L. C et al.Human molecular genetics (Print). 2000, Vol 9, Num 11, pp 1641-1649, issn 0964-6906Article

Development of a model system to compare cell separation methods for the isolation of fetal cells from maternal bloodBIANCHI, D. W; KLINGER, K. W; ERIKSON, M. S et al.Prenatal diagnosis. 1996, Vol 16, Num 4, pp 289-298, issn 0197-3851Article

Fluorescent in situ hybridization and second-trimester sonographic anomalies : uses and limitationsISADA, N. B; HUME, R. F; REICHLER, A et al.Fetal diagnosis and therapy. 1994, Vol 9, Num 6, pp 367-370, issn 1015-3837Article

Fetal cells in maternal blood : determination of purity and yield by quantitative polymerase chain reactionBIANCHI, D. W; SHUBER, A. P; DEMARIA, M. A et al.American journal of obstetrics and gynecology. 1994, Vol 171, Num 4, pp 922-926, issn 0002-9378Conference Paper

Expression and characterization of the cystic fibrosis transmembrane conductance regulatorGREGORY, R. J; CHENG, S. H; RICH, D. P et al.Nature (London). 1990, Vol 347, Num 6291, pp 382-386, issn 0028-0836, 5 p.Article

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cellsRICH, D. P; ANDERSON, M. P; GREGORY, R. J et al.Nature (London). 1990, Vol 347, Num 6291, pp 358-363, issn 0028-0836, 6 p.Article

Evaluation of DNA sequencing ambiguities using tetramethylammonium chloride hybridization conditionsCONNORS, T. D; BURN, T. C; VANRAAY, T et al.BioTechniques. 1997, Vol 22, Num 6, pp 1088-1090, issn 0736-6205Article

High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genesSHUBER, A. P; MICHALOWSKY, L. A; NASS, G. S et al.Human molecular genetics (Print). 1997, Vol 6, Num 3, pp 337-347, issn 0964-6906Article

PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnanciesBIANCHI, D. W; WILLIAMS, J. M; SULLIVAN, L. M et al.American journal of human genetics. 1997, Vol 61, Num 4, pp 822-829, issn 0002-9297Article

The NTN2L gene encoding a novel human netrin maps to the autosomal dominant polycystic kidney disease region on chromosome 16p13.3VAN RAAY, T. J; FOSKETT, S. M; CONNORS, T. D et al.Genomics (San Diego, Calif.). 1997, Vol 41, Num 2, pp 279-282, issn 0888-7543Article

The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3CONNORS, T. D; VAN RAAY, T. J; PETRY, L. R et al.Genomics (San Diego, Calif.). 1997, Vol 39, Num 2, pp 231-234, issn 0888-7543Article

A novel ribosomal protein L3-like gene (RPL3L) maps to the autosomal dominant polycystic kidney disease gene regionVAN RAAY, T. J; CONNORS, T. D; KLINGER, K. W et al.Genomics (San Diego, Calif.). 1996, Vol 37, Num 2, pp 172-176, issn 0888-7543Article

Prenatal detection of chromosome aneuploidies in uncultured chorionic villus samples by FISHBRYNDORF, T; CHRISTENSEN, B; VAD, M et al.American journal of human genetics. 1996, Vol 59, Num 4, pp 918-926, issn 0002-9297Article

Predictive testing for Huntington's disease with use of a linked DNA markerMEISSEN, G. J; MYERS, R. H; MASTROMAURO, C. A et al.The New England journal of medicine. 1988, Vol 318, Num 9, pp 535-542, issn 0028-4793Article