Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1996 Oct;75(4):346–350. doi: 10.1136/adc.75.4.346

Advances in genetics.

M M Lees 1, R M Winter 1
PMCID: PMC1511743  PMID: 8984927

Full text

PDF
346

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Ao A., Ray P., Harper J., Lesko J., Paraschos T., Atkinson G., Soussis I., Taylor D., Handyside A., Hughes M. Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508). Prenat Diagn. 1996 Feb;16(2):137–142. doi: 10.1002/(SICI)1097-0223(199602)16:2<137::AID-PD824>3.0.CO;2-H. [DOI] [PubMed] [Google Scholar]
  2. Bahado-Singh R. O., Kliman H., Feng T. Y., Hobbins J., Copel J. A., Mahoney M. J. First-trimester endocervical irrigation: feasibility of obtaining trophoblast cells for prenatal diagnosis. Obstet Gynecol. 1995 Mar;85(3):461–464. doi: 10.1016/0029-7844(94)00416-b. [DOI] [PubMed] [Google Scholar]
  3. Banfi S., Borsani G., Rossi E., Bernard L., Guffanti A., Rubboli F., Marchitiello A., Giglio S., Coluccia E., Zollo M. Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nat Genet. 1996 Jun;13(2):167–174. doi: 10.1038/ng0696-167. [DOI] [PubMed] [Google Scholar]
  4. Bassett D. E., Jr, Boguski M. S., Hieter P. Yeast genes and human disease. Nature. 1996 Feb 15;379(6566):589–590. doi: 10.1038/379589a0. [DOI] [PubMed] [Google Scholar]
  5. Bianchi D. W. Prenatal diagnosis by analysis of fetal cells in maternal blood. J Pediatr. 1995 Dec;127(6):847–856. doi: 10.1016/s0022-3476(95)70018-8. [DOI] [PubMed] [Google Scholar]
  6. Blaese R. M., Culver K. W., Miller A. D., Carter C. S., Fleisher T., Clerici M., Shearer G., Chang L., Chiang Y., Tolstoshev P. T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years. Science. 1995 Oct 20;270(5235):475–480. doi: 10.1126/science.270.5235.475. [DOI] [PubMed] [Google Scholar]
  7. Boguski M. S., Schuler G. D. ESTablishing a human transcript map. Nat Genet. 1995 Aug;10(4):369–371. doi: 10.1038/ng0895-369. [DOI] [PubMed] [Google Scholar]
  8. Bordignon C., Notarangelo L. D., Nobili N., Ferrari G., Casorati G., Panina P., Mazzolari E., Maggioni D., Rossi C., Servida P. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients. Science. 1995 Oct 20;270(5235):470–475. doi: 10.1126/science.270.5235.470. [DOI] [PubMed] [Google Scholar]
  9. Boucher R. C. Current status of CF gene therapy. Trends Genet. 1996 Mar;12(3):81–84. doi: 10.1016/0168-9525(96)81410-7. [DOI] [PubMed] [Google Scholar]
  10. Brewer C. M., Morrison N., Tolmie J. L. Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome. Arch Dis Child. 1996 Jan;74(1):59–61. doi: 10.1136/adc.74.1.59. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Bronner C. E., Baker S. M., Morrison P. T., Warren G., Smith L. G., Lescoe M. K., Kane M., Earabino C., Lipford J., Lindblom A. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994 Mar 17;368(6468):258–261. doi: 10.1038/368258a0. [DOI] [PubMed] [Google Scholar]
  12. Brunner H. G., Nelen M. R., van Zandvoort P., Abeling N. G., van Gennip A. H., Wolters E. C., Kuiper M. A., Ropers H. H., van Oost B. A. X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet. 1993 Jun;52(6):1032–1039. [PMC free article] [PubMed] [Google Scholar]
  13. Brunner H. G., Nelen M., Breakefield X. O., Ropers H. H., van Oost B. A. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science. 1993 Oct 22;262(5133):578–580. doi: 10.1126/science.8211186. [DOI] [PubMed] [Google Scholar]
  14. Bucher H. C., Schmidt J. G. Does routine ultrasound scanning improve outcome in pregnancy? Meta-analysis of various outcome measures. BMJ. 1993 Jul 3;307(6895):13–17. doi: 10.1136/bmj.307.6895.13. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Burton B. K., Schulz C. J., Burd L. I. Limb anomalies associated with chorionic villus sampling. Obstet Gynecol. 1992 May;79(5 ):726–730. [PubMed] [Google Scholar]
  16. Campuzano V., Montermini L., Moltò M. D., Pianese L., Cossée M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8;271(5254):1423–1427. doi: 10.1126/science.271.5254.1423. [DOI] [PubMed] [Google Scholar]
  17. Chan C. T., Clayton-Smith J., Cheng X. J., Buxton J., Webb T., Pembrey M. E., Malcolm S. Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J Med Genet. 1993 Nov;30(11):895–902. doi: 10.1136/jmg.30.11.895. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Cowan J. M. Fishing for chromosomes. The art and its applications. Diagn Mol Pathol. 1994 Dec;3(4):224–226. [PubMed] [Google Scholar]
  19. Cox D. R., Myers R. M. A map to the future. Nat Genet. 1996 Feb;12(2):117–118. doi: 10.1038/ng0296-117. [DOI] [PubMed] [Google Scholar]
  20. Crane J. P., LeFevre M. L., Winborn R. C., Evans J. K., Ewigman B. G., Bain R. P., Frigoletto F. D., McNellis D. A randomized trial of prenatal ultrasonographic screening: impact on the detection, management, and outcome of anomalous fetuses. The RADIUS Study Group. Am J Obstet Gynecol. 1994 Aug;171(2):392–399. doi: 10.1016/s0002-9378(94)70040-0. [DOI] [PubMed] [Google Scholar]
  21. Davies J. L., Kawaguchi Y., Bennett S. T., Copeman J. B., Cordell H. J., Pritchard L. E., Reed P. W., Gough S. C., Jenkins S. C., Palmer S. M. A genome-wide search for human type 1 diabetes susceptibility genes. Nature. 1994 Sep 8;371(6493):130–136. doi: 10.1038/371130a0. [DOI] [PubMed] [Google Scholar]
  22. Delhanty J. D. Preimplantation diagnosis. Prenat Diagn. 1994 Dec;14(13):1217–1227. doi: 10.1002/pd.1970141307. [DOI] [PubMed] [Google Scholar]
  23. Dietz H. C., Pyeritz R. E. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet. 1995;4(Spec No):1799–1809. doi: 10.1093/hmg/4.suppl_1.1799. [DOI] [PubMed] [Google Scholar]
  24. Driscoll D. A., Salvin J., Sellinger B., Budarf M. L., McDonald-McGinn D. M., Zackai E. H., Emanuel B. S. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993 Oct;30(10):813–817. doi: 10.1136/jmg.30.10.813. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Firth H. V., Boyd P. A., Chamberlain P. F., MacKenzie I. Z., Morriss-Kay G. M., Huson S. M. Analysis of limb reduction defects in babies exposed to chorionic villus sampling. Lancet. 1994 Apr 30;343(8905):1069–1071. doi: 10.1016/s0140-6736(94)90182-1. [DOI] [PubMed] [Google Scholar]
  26. Fischer C., Schweigert S., Spreckelsen C., Vogel F. Programs, databases, and expert systems for human geneticists--a survey. Hum Genet. 1996 Feb;97(2):129–137. doi: 10.1007/BF02265253. [DOI] [PubMed] [Google Scholar]
  27. Froster U. G., Jackson L. Limb defects and chorionic villus sampling: results from an international registry, 1992-94. Lancet. 1996 Feb 24;347(9000):489–494. doi: 10.1016/s0140-6736(96)91136-8. [DOI] [PubMed] [Google Scholar]
  28. Fryer A. Genetic testing of children. Arch Dis Child. 1995 Aug;73(2):97–99. doi: 10.1136/adc.73.2.97. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Ghosh S. S., Fahy E., Bodis-Wollner I., Sherman J., Howell N. Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing. Am J Hum Genet. 1996 Feb;58(2):325–334. [PMC free article] [PubMed] [Google Scholar]
  30. Goodburn S. F., Yates J. R., Raggatt P. R., Carr C., Ferguson-Smith M. E., Kershaw A. J., Milton P. J., Ferguson-Smith M. A. Second-trimester maternal serum screening using alpha-fetoprotein, human chorionic gonadotrophin, and unconjugated oestriol: experience of a regional programme. Prenat Diagn. 1994 May;14(5):391–402. doi: 10.1002/pd.1970140509. [DOI] [PubMed] [Google Scholar]
  31. Hamer D. H., Hu S., Magnuson V. L., Hu N., Pattatucci A. M. A linkage between DNA markers on the X chromosome and male sexual orientation. Science. 1993 Jul 16;261(5119):321–327. doi: 10.1126/science.8332896. [DOI] [PubMed] [Google Scholar]
  32. Harris P. C., Ward C. J., Peral B., Hughes J. Autosomal dominant polycystic kidney disease: molecular analysis. Hum Mol Genet. 1995;4(Spec No):1745–1749. doi: 10.1093/hmg/4.suppl_1.1745. [DOI] [PubMed] [Google Scholar]
  33. Hawes C. S., Suskin H. A., Kalionis B., Mueller U. W., Casey G., Hall J., Rudzki Z. Detection of paternally inherited mutations for beta-thalassemia in trophoblast isolated from peripheral maternal blood. Ann N Y Acad Sci. 1994 Sep 7;731:181–185. doi: 10.1111/j.1749-6632.1994.tb55767.x. [DOI] [PubMed] [Google Scholar]
  34. Henry I., Bonaiti-Pellié C., Chehensse V., Beldjord C., Schwartz C., Utermann G., Junien C. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature. 1991 Jun 20;351(6328):665–667. doi: 10.1038/351665a0. [DOI] [PubMed] [Google Scholar]
  35. Hu S., Pattatucci A. M., Patterson C., Li L., Fulker D. W., Cherny S. S., Kruglyak L., Hamer D. H. Linkage between sexual orientation and chromosome Xq28 in males but not in females. Nat Genet. 1995 Nov;11(3):248–256. doi: 10.1038/ng1195-248. [DOI] [PubMed] [Google Scholar]
  36. Hugot J. P., Laurent-Puig P., Gower-Rousseau C., Olson J. M., Lee J. C., Beaugerie L., Naom I., Dupas J. L., Van Gossum A., Orholm M. Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature. 1996 Feb 29;379(6568):821–823. doi: 10.1038/379821a0. [DOI] [PubMed] [Google Scholar]
  37. Kaukonen J. A., Amati P., Suomalainen A., Rötig A., Piscaglia M. G., Salvi F., Weissenbach J., Fratta G., Comi G., Peltonen L. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet. 1996 Apr;58(4):763–769. [PMC free article] [PubMed] [Google Scholar]
  38. Knowles M. R., Hohneker K. W., Zhou Z., Olsen J. C., Noah T. L., Hu P. C., Leigh M. W., Engelhardt J. F., Edwards L. J., Jones K. R. A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. N Engl J Med. 1995 Sep 28;333(13):823–831. doi: 10.1056/NEJM199509283331302. [DOI] [PubMed] [Google Scholar]
  39. Kotzot D., Schmitt S., Bernasconi F., Robinson W. P., Lurie I. W., Ilyina H., Méhes K., Hamel B. C., Otten B. J., Hergersberg M. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet. 1995 Apr;4(4):583–587. doi: 10.1093/hmg/4.4.583. [DOI] [PubMed] [Google Scholar]
  40. Kuliev A. M., Modell B., Jackson L. Limb abnormalities and chorionic villus sampling. Lancet. 1992 Sep 12;340(8820):668–668. doi: 10.1016/0140-6736(92)92197-n. [DOI] [PubMed] [Google Scholar]
  41. Lindblad K., Zander C., Schalling M., Hudson T. Growing triplet repeats. Nat Genet. 1994 Jun;7(2):124–124. doi: 10.1038/ng0694-124. [DOI] [PubMed] [Google Scholar]
  42. Lippman A., Tomkins D. J., Shime J., Hamerton J. L. Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Final report. Prenat Diagn. 1992 May;12(5):385–408. doi: 10.1002/pd.1970120508. [DOI] [PubMed] [Google Scholar]
  43. Mendell J. R., Kissel J. T., Amato A. A., King W., Signore L., Prior T. W., Sahenk Z., Benson S., McAndrew P. E., Rice R. Myoblast transfer in the treatment of Duchenne's muscular dystrophy. N Engl J Med. 1995 Sep 28;333(13):832–838. doi: 10.1056/NEJM199509283331303. [DOI] [PubMed] [Google Scholar]
  44. Morison I. M., Becroft D. M., Taniguchi T., Woods C. G., Reeve A. E. Somatic overgrowth associated with overexpression of insulin-like growth factor II. Nat Med. 1996 Mar;2(3):311–316. doi: 10.1038/nm0396-311. [DOI] [PubMed] [Google Scholar]
  45. Murray J. M., Doe C. L., Schenk P., Carr A. M., Lehmann A. R., Watts F. Z. Cloning and characterisation of the S. pombe rad15 gene, a homologue to the S. cerevisiae RAD3 and human ERCC2 genes. Nucleic Acids Res. 1992 Jun 11;20(11):2673–2678. doi: 10.1093/nar/20.11.2673. [DOI] [PMC free article] [PubMed] [Google Scholar]
  46. Nicholls R. D. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet. 1993 Apr 1;46(1):16–25. doi: 10.1002/ajmg.1320460106. [DOI] [PubMed] [Google Scholar]
  47. Nicolaides K. H., Brizot M. L., Snijders R. J. Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy. Br J Obstet Gynaecol. 1994 Sep;101(9):782–786. doi: 10.1111/j.1471-0528.1994.tb11946.x. [DOI] [PubMed] [Google Scholar]
  48. Overturf K., Al-Dhalimy M., Tanguay R., Brantly M., Ou C. N., Finegold M., Grompe M. Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. Nat Genet. 1996 Mar;12(3):266–273. doi: 10.1038/ng0396-266. [DOI] [PubMed] [Google Scholar]
  49. Pandya P. P., Goldberg H., Walton B., Riddle A., Shelley S., Snijders R. J., Nicolaides K. H. The implementation of first-trimester scanning at 10-13 weeks' gestation and the measurement of fetal nuchal translucency thickness in two maternity units. Ultrasound Obstet Gynecol. 1995 Jan;5(1):20–25. doi: 10.1046/j.1469-0705.1995.05010020.x. [DOI] [PubMed] [Google Scholar]
  50. Poulton J., Brown G. K. Investigation of mitochondrial disease. Arch Dis Child. 1995 Aug;73(2):94–97. doi: 10.1136/adc.73.2.94-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  51. Saari-Kemppainen A., Karjalainen O., Ylöstalo P., Heinonen O. P. Ultrasound screening and perinatal mortality: controlled trial of systematic one-stage screening in pregnancy. The Helsinki Ultrasound Trial. Lancet. 1990 Aug 18;336(8712):387–391. doi: 10.1016/0140-6736(90)91941-3. [DOI] [PubMed] [Google Scholar]
  52. Simpson J. L., Elias S. Isolating fetal cells in maternal circulation for prenatal diagnosis. Prenat Diagn. 1994 Dec;14(13):1229–1242. doi: 10.1002/pd.1970141308. [DOI] [PubMed] [Google Scholar]
  53. Smith A., Prasad M., Deng Z. M., Robson L., Woodage T., Trent R. J. Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes. Arch Dis Child. 1995 May;72(5):397–402. doi: 10.1136/adc.72.5.397. [DOI] [PMC free article] [PubMed] [Google Scholar]
  54. Smith K. H., Johns D. R., Heher K. L., Miller N. R. Heteroplasmy in Leber's hereditary optic neuropathy. Arch Ophthalmol. 1993 Nov;111(11):1486–1490. doi: 10.1001/archopht.1993.01090110052022. [DOI] [PubMed] [Google Scholar]
  55. Sokol R. J. Expanding spectrum of mitochondrial disorders. J Pediatr. 1996 May;128(5 Pt 1):597–599. doi: 10.1016/s0022-3476(96)80121-1. [DOI] [PubMed] [Google Scholar]
  56. Spence J. E., Perciaccante R. G., Greig G. M., Willard H. F., Ledbetter D. H., Hejtmancik J. F., Pollack M. S., O'Brien W. E., Beaudet A. L. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. 1988 Feb;42(2):217–226. [PMC free article] [PubMed] [Google Scholar]
  57. Takabayashi H., Kuwabara S., Ukita T., Ikawa K., Yamafuji K., Igarashi T. Development of non-invasive fetal DNA diagnosis from maternal blood. Prenat Diagn. 1995 Jan;15(1):74–77. doi: 10.1002/pd.1970150116. [DOI] [PubMed] [Google Scholar]
  58. Thomas M. R., Williamson R., Craft I., Yazdani N., Rodeck C. H. Y chromosome sequence DNA amplified from peripheral blood of women in early pregnancy. Lancet. 1994 Feb 12;343(8894):413–414. doi: 10.1016/s0140-6736(94)91248-3. [DOI] [PubMed] [Google Scholar]
  59. Turk J. Fragile X syndrome. Arch Dis Child. 1995 Jan;72(1):3–5. doi: 10.1136/adc.72.1.3. [DOI] [PMC free article] [PubMed] [Google Scholar]
  60. Vincent N., Ragot T., Gilgenkrantz H., Couton D., Chafey P., Grégoire A., Briand P., Kaplan J. C., Kahn A., Perricaudet M. Long-term correction of mouse dystrophic degeneration by adenovirus-mediated transfer of a minidystrophin gene. Nat Genet. 1993 Oct;5(2):130–134. doi: 10.1038/ng1093-130. [DOI] [PubMed] [Google Scholar]
  61. Wald N. J., George L., Smith D., Densem J. W., Petterson K. Serum screening for Down's syndrome between 8 and 14 weeks of pregnancy. International Prenatal Screening Research Group. Br J Obstet Gynaecol. 1996 May;103(5):407–412. doi: 10.1111/j.1471-0528.1996.tb09765.x. [DOI] [PubMed] [Google Scholar]
  62. Wald N. J., Kennard A., Hackshaw A. K. First trimester serum screening for Down's syndrome. Prenat Diagn. 1995 Dec;15(13):1227–1240. doi: 10.1002/pd.1970151305. [DOI] [PubMed] [Google Scholar]
  63. Webb D. W., Osborne J. P. Tuberous sclerosis. Arch Dis Child. 1995 Jun;72(6):471–474. doi: 10.1136/adc.72.6.471. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES