Full text
PDF







Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bakker E., Veenema H., Den Dunnen J. T., van Broeckhoven C., Grootscholten P. M., Bonten E. J., van Ommen G. J., Pearson P. L. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet. 1989 Sep;26(9):553–559. doi: 10.1136/jmg.26.9.553. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Barker D., Wright E., Nguyen K., Cannon L., Fain P., Goldgar D., Bishop D. T., Carey J., Baty B., Kivlin J. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science. 1987 May 29;236(4805):1100–1102. doi: 10.1126/science.3107130. [DOI] [PubMed] [Google Scholar]
- Bartlett R. J., Pericak-Vance M. A., Yamaoka L., Gilbert J., Herbstreith M., Hung W. Y., Lee J. E., Mohandas T., Bruns G., Laberge C. A new probe for the diagnosis of myotonic muscular dystrophy. Science. 1987 Mar 27;235(4796):1648–1650. doi: 10.1126/science.3029876. [DOI] [PubMed] [Google Scholar]
- Beaudet A. L., Feldman G. L., Fernbach S. D., Buffone G. J., O'Brien W. E. Linkage disequilibrium, cystic fibrosis, and genetic counseling. Am J Hum Genet. 1989 Mar;44(3):319–326. [PMC free article] [PubMed] [Google Scholar]
- Beaudet A. L., Feldman G. L., Fernbach S. D., Buffone G. J., O'Brien W. E. Linkage disequilibrium, cystic fibrosis, and genetic counseling. Am J Hum Genet. 1989 Mar;44(3):319–326. [PMC free article] [PubMed] [Google Scholar]
- Breuning M. H., Reeders S. T., Brunner H., Ijdo J. W., Saris J. J., Verwest A., van Ommen G. J., Pearson P. L. Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet. 1987 Dec 12;2(8572):1359–1361. doi: 10.1016/s0140-6736(87)91256-6. [DOI] [PubMed] [Google Scholar]
- Bridge P. J., Lillicrap D. P. Molecular diagnosis of the fragile X [Fra (X)] syndrome: calculation of risks based on flanking DNA markers in small phase-unknown families. Am J Med Genet. 1989 May;33(1):92–99. doi: 10.1002/ajmg.1320330113. [DOI] [PubMed] [Google Scholar]
- Brink P. A., Steyn L. T., Coetzee G. A., Van der Westhuyzen D. R. Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect. Hum Genet. 1987 Sep;77(1):32–35. doi: 10.1007/BF00284709. [DOI] [PubMed] [Google Scholar]
- Cai S. P., Chang C. A., Zhang J. Z., Saiki R. K., Erlich H. A., Kan Y. W. Rapid prenatal diagnosis of beta thalassemia using DNA amplification and nonradioactive probes. Blood. 1989 Feb;73(2):372–374. [PubMed] [Google Scholar]
- Camerino G., Oberlé I., Drayna D., Mandel J. L. A new MspI restriction fragment length polymorphism in the hemophilia B locus. Hum Genet. 1985;71(1):79–81. doi: 10.1007/BF00295673. [DOI] [PubMed] [Google Scholar]
- Camerino G., Oberlé I., Drayna D., Mandel J. L. A new MspI restriction fragment length polymorphism in the hemophilia B locus. Hum Genet. 1985;71(1):79–81. doi: 10.1007/BF00295673. [DOI] [PubMed] [Google Scholar]
- Cavenee W. K., Murphree A. L., Shull M. M., Benedict W. F., Sparkes R. S., Kock E., Nordenskjold M. Prediction of familial predisposition to retinoblastoma. N Engl J Med. 1986 May 8;314(19):1201–1207. doi: 10.1056/NEJM198605083141901. [DOI] [PubMed] [Google Scholar]
- Chakravarti A., Buetow K. H. A strategy for using multiple linked markers for genetic counseling. Am J Hum Genet. 1985 Sep;37(5):984–997. [PMC free article] [PubMed] [Google Scholar]
- Chehab F. F., Doherty M., Cai S. P., Kan Y. W., Cooper S., Rubin E. M. Detection of sickle cell anaemia and thalassaemias. Nature. 1987 Sep 24;329(6137):293–294. doi: 10.1038/329293b0. [DOI] [PubMed] [Google Scholar]
- Chehab F. F., Doherty M., Cai S. P., Kan Y. W., Cooper S., Rubin E. M. Detection of sickle cell anaemia and thalassaemias. Nature. 1987 Sep 24;329(6137):293–294. doi: 10.1038/329293b0. [DOI] [PubMed] [Google Scholar]
- Cutting G. R., Antonarakis S. E., Buetow K. H., Kasch L. M., Rosenstein B. J., Kazazian H. H., Jr Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene. Am J Hum Genet. 1989 Mar;44(3):307–318. [PMC free article] [PubMed] [Google Scholar]
- Dahl N., Hammarström-Heeroma K., Goonewardena P., Wadelius C., Gustavson K. H., Holmgren G., van Ommen G. J., Pettersson U. Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome. Hum Genet. 1989 Jun;82(3):216–218. doi: 10.1007/BF00291157. [DOI] [PubMed] [Google Scholar]
- Davies K. E., Jackson J., Williamson R., Harper P. S., Ball S., Sarfarazi M., Meredith L., Fey G. Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. J Med Genet. 1983 Aug;20(4):259–263. doi: 10.1136/jmg.20.4.259. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Estivill X., Scambler P. J., Wainwright B. J., Hawley K., Frederick P., Schwartz M., Baiget M., Kere J., Williamson R., Farrall M. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics. 1987 Nov;1(3):257–263. doi: 10.1016/0888-7543(87)90052-8. [DOI] [PubMed] [Google Scholar]
- Estivill X., Scambler P. J., Wainwright B. J., Hawley K., Frederick P., Schwartz M., Baiget M., Kere J., Williamson R., Farrall M. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics. 1987 Nov;1(3):257–263. doi: 10.1016/0888-7543(87)90052-8. [DOI] [PubMed] [Google Scholar]
- Fujiwara T. M., Morgan K., Schwartz R. H., Doherty R. A., Miller S. R., Klinger K., Stanislovitis P., Stuart N., Watkins P. C. Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren. Am J Hum Genet. 1989 Mar;44(3):327–337. [PMC free article] [PubMed] [Google Scholar]
- Gal A., Stolzenberger C., Wienker T., Wieacker P., Ropers H. H., Friedrich U., Bleeker-Wagemakers L., Pearson P., Warburg M. Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome. Clin Genet. 1985 Mar;27(3):282–283. doi: 10.1111/j.1399-0004.1985.tb00221.x. [DOI] [PubMed] [Google Scholar]
- Gitschier J., Wood W. I., Tuddenham E. G., Shuman M. A., Goralka T. M., Chen E. Y., Lawn R. M. Detection and sequence of mutations in the factor VIII gene of haemophiliacs. 1985 May 30-Jun 5Nature. 315(6018):427–430. doi: 10.1038/315427a0. [DOI] [PubMed] [Google Scholar]
- Gusella J. F., Wexler N. S., Conneally P. M., Naylor S. L., Anderson M. A., Tanzi R. E., Watkins P. C., Ottina K., Wallace M. R., Sakaguchi A. Y. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17;306(5940):234–238. doi: 10.1038/306234a0. [DOI] [PubMed] [Google Scholar]
- Hanauer A., Chery M., Fujita R., Driesel A. J., Gilgenkrantz S., Mandel J. L. The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15. Am J Hum Genet. 1990 Jan;46(1):133–137. [PMC free article] [PubMed] [Google Scholar]
- Hejtmancik J. F., Sifers R. N., Ward P. A., Harris S., Mansfield T., Cox D. W. Prenatal diagnosis of alpha 1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis. Lancet. 1986 Oct 4;2(8510):767–770. doi: 10.1016/s0140-6736(86)90297-7. [DOI] [PubMed] [Google Scholar]
- Higgs D. R., Weatherall D. J. Alpha-thalassemia. Curr Top Hematol. 1983;4:37–97. [PubMed] [Google Scholar]
- Hsia Y. E., Ford C. A., Shapiro L. J., Hunt J. A., Ching N. S. Molecular screening for haemoglobin constant spring. Lancet. 1989 May 6;1(8645):988–991. doi: 10.1016/s0140-6736(89)92630-5. [DOI] [PubMed] [Google Scholar]
- Kerem B., Rommens J. M., Buchanan J. A., Markiewicz D., Cox T. K., Chakravarti A., Buchwald M., Tsui L. C. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073–1080. doi: 10.1126/science.2570460. [DOI] [PubMed] [Google Scholar]
- Kivlin J. D., Sanborn G. E., Wright E., Cannon L., Carey J. Further linkage data on Norrie disease. Am J Med Genet. 1987 Mar;26(3):733–736. doi: 10.1002/ajmg.1320260329. [DOI] [PubMed] [Google Scholar]
- Kogan S. C., Doherty M., Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med. 1987 Oct 15;317(16):985–990. doi: 10.1056/NEJM198710153171603. [DOI] [PubMed] [Google Scholar]
- Kurachi K., Davie E. W. Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6461–6464. doi: 10.1073/pnas.79.21.6461. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kurachi K., Davie E. W. Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6461–6464. doi: 10.1073/pnas.79.21.6461. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Levinson B., Janco R., Phillips J., 3rd, Gitschier J. A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. Nucleic Acids Res. 1987 Dec 10;15(23):9797–9805. doi: 10.1093/nar/15.23.9797. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Monaco A. P., Neve R. L., Colletti-Feener C., Bertelson C. J., Kurnit D. M., Kunkel L. M. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986 Oct 16;323(6089):646–650. doi: 10.1038/323646a0. [DOI] [PubMed] [Google Scholar]
- Moraes C. T., DiMauro S., Zeviani M., Lombes A., Shanske S., Miranda A. F., Nakase H., Bonilla E., Werneck L. C., Servidei S. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 1989 May 18;320(20):1293–1299. doi: 10.1056/NEJM198905183202001. [DOI] [PubMed] [Google Scholar]
- Morel Y., André J., Uring-Lambert B., Hauptmann G., Bétuel H., Tossi M., Forest M. G., David M., Bertrand J., Miller W. L. Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest. 1989 Feb;83(2):527–536. doi: 10.1172/JCI113914. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Newgard C. B., Fletterick R. J., Anderson L. A., Lebo R. V. The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. Am J Hum Genet. 1987 Apr;40(4):351–364. [PMC free article] [PubMed] [Google Scholar]
- Nicholls A. C., De Paepe A., Narcisi P., Dalgleish R., De Keyser F., Matton M., Pope F. M. Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree. Hum Genet. 1988 Mar;78(3):276–281. doi: 10.1007/BF00291676. [DOI] [PubMed] [Google Scholar]
- Nicholls A. C., De Paepe A., Narcisi P., Dalgleish R., De Keyser F., Matton M., Pope F. M. Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree. Hum Genet. 1988 Mar;78(3):276–281. doi: 10.1007/BF00291676. [DOI] [PubMed] [Google Scholar]
- Nussbaum R. L., Boggs B. A., Beaudet A. L., Doyle S., Potter J. L., O'Brien W. E. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Am J Hum Genet. 1986 Feb;38(2):149–158. [PMC free article] [PubMed] [Google Scholar]
- Patterson M. N., Bell M. V., Bloomfield J., Flint T., Dorkins H., Thibodeau S. N., Schaid D., Bren G., Schwartz C. E., Wieringa B. Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. Genomics. 1989 May;4(4):570–578. doi: 10.1016/0888-7543(89)90281-4. [DOI] [PubMed] [Google Scholar]
- Ramesh V., Shaffer M. M., Allaire J. M., Shih V. E., Gusella J. F. Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. DNA. 1986 Dec;5(6):493–501. doi: 10.1089/dna.1.1986.5.493. [DOI] [PubMed] [Google Scholar]
- Reeders S. T., Keith T., Green P., Germino G. G., Barton N. J., Lehmann O. J., Brown V. A., Phipps P., Morgan J., Bear J. C. Regional localization of the autosomal dominant polycystic kidney disease locus. Genomics. 1988 Aug;3(2):150–155. doi: 10.1016/0888-7543(88)90146-2. [DOI] [PubMed] [Google Scholar]
- Rommens J. M., Iannuzzi M. C., Kerem B., Drumm M. L., Melmer G., Dean M., Rozmahel R., Cole J. L., Kennedy D., Hidaka N. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 8;245(4922):1059–1065. doi: 10.1126/science.2772657. [DOI] [PubMed] [Google Scholar]
- Saiki R. K., Chang C. A., Levenson C. H., Warren T. C., Boehm C. D., Kazazian H. H., Jr, Erlich H. A. Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med. 1988 Sep 1;319(9):537–541. doi: 10.1056/NEJM198809013190903. [DOI] [PubMed] [Google Scholar]
- Saiki R. K., Chang C. A., Levenson C. H., Warren T. C., Boehm C. D., Kazazian H. H., Jr, Erlich H. A. Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med. 1988 Sep 1;319(9):537–541. doi: 10.1056/NEJM198809013190903. [DOI] [PubMed] [Google Scholar]
- Saiki R. K., Scharf S., Faloona F., Mullis K. B., Horn G. T., Erlich H. A., Arnheim N. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 1985 Dec 20;230(4732):1350–1354. doi: 10.1126/science.2999980. [DOI] [PubMed] [Google Scholar]
- Scheffer H., te Meerman G. J., Kruize Y. C., van den Berg A. H., Penninga D. P., Tan K. E., der Kinderen D. J., Buys C. H. Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene. Am J Hum Genet. 1989 Aug;45(2):252–260. [PMC free article] [PubMed] [Google Scholar]
- Schnur R. E., Ledbetter S. A., Ledbetter D. H., Merry D. E., Nussbaum R. L. New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization. Am J Hum Genet. 1989 Feb;44(2):248–254. [PMC free article] [PubMed] [Google Scholar]
- Shapiro L. J., Yen P., Pomerantz D., Martin E., Rolewic L., Mohandas T. Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci U S A. 1989 Nov;86(21):8477–8481. doi: 10.1073/pnas.86.21.8477. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Singh G., Lott M. T., Wallace D. C. A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med. 1989 May 18;320(20):1300–1305. doi: 10.1056/NEJM198905183202002. [DOI] [PubMed] [Google Scholar]
- Skraastad M. I., Bakker E., de Lange L. F., Vegter-van der Vlis M., Klein-Breteler E. G., van Ommen G. J., Pearson P. L. Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region. Am J Hum Genet. 1989 Apr;44(4):560–566. [PMC free article] [PubMed] [Google Scholar]
- Spence J. E., Buffone G. J., Rosenbloom C. L., Fernbach S. D., Curry M. R., Carpenter R. J., Ledbetter D. H., O'Brien W. E., Beaudet A. L. Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis. Hum Genet. 1987 May;76(1):5–10. doi: 10.1007/BF00283042. [DOI] [PubMed] [Google Scholar]
- Tsipouras P., Byers P. H., Schwartz R. C., Chu M. L., Weil D., Pepe G., Cassidy S. B., Ramirez F. Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet. 1986 Sep;74(1):41–46. doi: 10.1007/BF00278783. [DOI] [PubMed] [Google Scholar]
- Tzall S., Ellenbogen A., Eng F., Hirschhorn R. Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus. Am J Hum Genet. 1989 Jun;44(6):864–875. [PMC free article] [PubMed] [Google Scholar]
- Ward K., O'Connell P., Carey J. C., Leppert M., Jolley S., Plaetke R., Ogden B., White R. Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers. Am J Hum Genet. 1990 May;46(5):943–949. [PMC free article] [PubMed] [Google Scholar]
- Wiggs J., Nordenskjöld M., Yandell D., Rapaport J., Grondin V., Janson M., Werelius B., Petersen R., Craft A., Riedel K. Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. N Engl J Med. 1988 Jan 21;318(3):151–157. doi: 10.1056/NEJM198801213180305. [DOI] [PubMed] [Google Scholar]
- Woo S. L., Lidsky A. S., Güttler F., Chandra T., Robson K. J. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature. 1983 Nov 10;306(5939):151–155. doi: 10.1038/306151a0. [DOI] [PubMed] [Google Scholar]
- Yamaoka L. H., Pericak-Vance M. A., Speer M. C., Gaskell P. C., Jr, Stajich J., Haynes C., Hung W. Y., Laberge C., Thibault M. C., Mathieu J. Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. Neurology. 1990 Feb;40(2):222–226. doi: 10.1212/wnl.40.2.222. [DOI] [PubMed] [Google Scholar]