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Sidst opdateret: 16/11 2017
Forskning - Down syndrom publikationer
Kontakt: Karen Brøndum Nielsen

73.

Karen Brøndum-Nielsen, Trisomi 21, den første kromosomafvigelse hos mennesket, blev opdaget for 50 år siden. Kronik, Ugeskr Læger 2009;171(38):2772

 

72.

Kjaersgaard S, Hahnemann JM, Skibsted L, Jensen LN, Sperling L, Zingenberg H, Kristiansen A, Brøndum-Nielsen K. Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome. Ugeskr Laeger. 2008 Mar 31;170(14):1152-6.

 

71.

Mayor S. Denmark halves Down's births by non-invasive screening in early pregnancy. BMJ. 2007 Jun 23;334(7607):1291.

 

70.

Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down's syndrome. Lancet. 2000 Jan 15;355(9199):165-9.

69.

Petersen MB, Mikkelsen M. Nondisjunction in trisomy 21: Origin and mechanisms. Cytogenet Cell Genet. 2000;91(1-4):199-203.

68.

Dean G, Nevin NC, Mikkelsen M, Karadima G, Petersen MB, Kelly M, O'Sullivan J. Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland. Occup Environ Med. 2000 Dec;57(12):793-804.

67.

Petersen MB, Karadima G, Samaritaki M, Avramopoulos D, Vassilopoulos D, Mikkelsen M. Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome. Am J Med Genet. 2000 Aug 28;93(5):366-72.

66.

Savage AR, Petersen MB, Pettay D, Taft L, Allran K, Freeman SB, Karadima G, Avramopoulos D, Torfs C, Mikkelsen M, Hassold TJ, Sherman SL. Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet. 1998 Aug;7(8):1221-7.

65.

Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, Hertz JM, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brondum-Nielsen K, Morton N, Mikkelsen M. Non-disjunction of chromosome 18. Hum Mol Genet. 1998 Apr;7(4):661-9.

64.

Bartsch O, Hinkel GK, Petersen MB, Konig U, Bugge M, Mikkelsen M, Avramopoulos D, Morris M, Antonarakis SE. A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region. Hum Genet. 1997 Oct;100(5-6):669-75.

63.

Lamb NE, Feingold E, Savage A, Avramopoulos D, Freeman S, Gu Y, Hallberg A, Hersey J, Karadima G, Pettay D, Saker D, Shen J, Taft L, Mikkelsen M, Petersen MB, Hassold T, Sherman SL. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet. 1997 Sep;6(9):1391-9.

62.

Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, Mikkelsen M, Hassold TJ, Sherman SL. Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet. 1996 Dec;14(4):400-5.

61.

Macintosh MC, Wald NJ, Chard T, Hansen J, Mikkelsen M, Therkelsen AJ, Petersen GB, Lundsteen C. The selective miscarriage of Down's syndrome from 10 weeks of pregnancy. Br J Obstet Gynaecol. 1996 Nov;103(11):1172-3. No abstract available. Erratum in: Br J Obstet Gynaecol 1996 Nov;103(11):1172-3.

60.

Avramopoulos D, Mikkelsen M, Vassilopoulos D, Grigoriadou M, Petersen MB. Apolipoprotein E allele distribution in parents of Down's syndrome children. Lancet. 1996 Mar 30;347(9005):862-5.

59.

Macintosh MC, Wald NJ, Chard T, Hansen J, Mikkelsen M, Therkelsen AJ, Petersen GB, Lundsteen C. Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older. Br J Obstet Gynaecol. 1995 Oct;102(10):798-801.

58.

Sperling K, Pelz J, Wegner RD, Dorries A, Gruters A, Mikkelsen M. Fallout from Chernobyl. Authors stand by study that Chernobyl increased trisomy 21 in Berlin. BMJ. 1994 Nov 12;309(6964):1299.

57.

Sherman SL, Petersen MB, Freeman SB, Hersey J, Pettay D, Taft L, Frantzen M, Mikkelsen M, Hassold TJ. Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum Mol Genet. 1994 Sep;3(9):1529-35.

56.

Sperling K, Pelz J, Wegner RD, Dorries A, Gruters A, Mikkelsen M. Significant increase in trisomy 21 in Berlin nine months after the Chernobyl reactor accident: temporal correlation or causal relation? BMJ. 1994 Jul 16;309(6948):158-62.

55.

Petersen MB, Antonarakis SE, Hassold TJ, Freeman SB, Sherman SL, Avramopoulos D, Mikkelsen M. Paternal nondisjunction in trisomy 21: excess of male patients.
Hum Mol Genet. 1993 Oct;2(10):1691-5.

54.

Bartsch O, Konig U, Petersen MB, Poulsen H, Mikkelsen M, Palau F, Prieto F, Schwinger E. Cytogenetic, FISH and DNA studies in 11 individuals from a family with two
siblings with dup(21q) Down syndrome. Hum Genet. 1993 Sep;92(2):127-32.

53.

Mikkelsen M. The impact of prenatal diagnosis on the incidence of Down syndrome in Denmark. Birth Defects Orig Artic Ser. 1992;28(3):44-51. No abstract available.

52.

Petersen MB, Schinzel AA, Binkert F, Tranebjaerg L, Mikkelsen M, Collins FA, Economou EP, Antonarakis SE. Use of short sequence repeat DNA polymorphisms after PCR amplification to
detect the parental origin of the additional chromosome 21 in Down syndrome. Am J Hum Genet. 1991 Jan;48(1):65-71.

51. Mikkelsen M, Poulsen H, Nielsen KG. Incidence, survival, and mortality in Down syndrome in Denmark. Am J Med Genet Suppl. 1990;7:75-8.

50. Petersen MB, Tranebjaerg L, McCormick MK, Michelsen N, Mikkelsen M, Antonarakis SE. Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q. Am J Med Genet Suppl. 1990;7:104-9.

49. McCormick MK, Schinzel A, Petersen MB, Stetten G, Driscoll DJ, Cantu ES, Tranebjaerg L, Mikkelsen M, Watkins PC, Antonarakis SE. Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics. 1989 Aug;5(2):325-31.

48. Mikkelsen M, Poulsen H, Tommerup N. Genetic risk factors in human trisomy 21. Prog Clin Biol Res. 1989;311:183-97. No abstract available.

47. Mikkelsen M. The incidence of Down's syndrome and progress towards its reduction. Philos Trans R Soc Lond B Biol Sci. 1988 Jun 15;319(1194):315-24.

46. Nielsen KG, Poulsen H, Mikkelsen M, Steuber E. Multiple recurrence of trisomy 21 Down syndrome. Hum Genet. 1988 Jan;78(1):103-5.

45. Nielsen KG, Pilgaard B, Mikkelsen M. Occurrence and survival of newborn infants with Down syndrome in Denmark 1980-1985 Ugeskr Laeger. 1987 Aug 3;149(32):2170-3.

44. Tommerup N, Nielsen J, Mikkelsen M. A folate sensitive heritable fragile site at 19p13. Clin Genet. 1985 May;27(5):510-4.

43. Pilgaard B, Mikkelsen M. Decrease in occurrence of Down's syndrome in Denmark 1980-1982. The effect of prenatal diagnosis Ugeskr Laeger. 1985 Jan 21;147(4):243-5. Danish. No abstract available.

42. Mikkelsen M. Down anomaly: new research aspects of an old and well known syndrome. Prog Clin Biol Res. 1985;177:293-307. No abstract available.

41. Aagesen L, Grinsted J, Mikkelsen M. Advanced grandmaternal age on the mother's side--a risk of giving rise to trisomy 21. Ann Hum Genet. 1984 Oct;48 ( Pt 4):297-301.

40. Stene J, Stene E, Mikkelsen M. Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. A European Collaborative Study on Prenatal Diagnoses 1981. Prenat Diagn. 1984 Spring;4 Spec No:81-95.

39. Mikkelsen M, Fischer G, Hansen J, Pilgaard B, Nielsen J. The impact of legal termination of pregnancy and of prenatal diagnosis on the birth prevalence of Down syndrome in Denmark. Ann Hum Genet. 1983 May;47 Pt 2:123-31.

38. Mikkelsen M. Parental origin of the extra chromosome in Down's Syndrome. J Ment Defic Res. 1982 Sep;26(Pt 3):143-51.

37. Mikkelsen M. Down syndrome: current stage of cytogenetic epidemiology. Prog Clin Biol Res. 1982;103 Pt B:297-309.

36. Mikkelsen M. New aspects of a well-known syndrome (Down syndrome-mongolism). Eur J Pediatr. 1981 Mar;136(1):5-7.

35. Nielsen J, Jacobsen P, Mikkelsen M, Niebuhr E, Sorensen K. Sex ratio in Down syndrome. Ann Genet. 1981;24(4):212-5.

34. Mikkelsen M. Epidemiology of trisomy 21: population, peri- and antenatal data. Hum Genet Suppl. 1981;2:211-26.

33. Mikkelsen M, Poulsen H, Grinsted J, Lange A. Non-disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families. Ann Hum Genet. 1980 Jul;44(Pt 1):17-28.

32. Hansson A, Mikkelsen M. The origin of the extra chromosome 21 in Down syndrome. Studies of fluorescent variants and satelite association in 26 informative families. Cytogenet Cell Genet. 1978;20(1-6):194-203.

31. Mikkelsen M. Down syndrome: cytogenetical epidemiology. Hereditas. 1977;86(1):45-50.

30. Stene J, Fischer G, Stene E, Mikkelsen M, Petersen E. Paternal age effect in Down's syndrome. Ann Hum Genet. 1977 Jan;40(3):299-306.

29. Mikkelsen M, Fischer G, Stene J, Stene E, Petersen E. Incidence study of Down's syndrome in Copenhagen, 1960-1971; with chromosome investigation. Ann Hum Genet. 1976 Nov;40(2):177-82.

28. Mikkelsen M, Hallberg A, Poulsen H. Maternal and paternal origin of extra chromosome in trisomy 21. Hum Genet. 1976 Apr 15;32(1):17-21.

27. Petersen EE, Mikkelsen M, Stene E, Stene J. Information to parents of children with Down's syndrome (mongolism) Ugeskr Laeger. 1976 Apr 12;138(16):997-1003.

26. Schwinger E, Mikkelsen M, Niesen M. Familial balanced (7;11;21) translocation and Down's syndrome in two siblings. Clin Genet. 1975 Apr;7(4):304-7.

25. Oster J, Mikkelsen M, Nielsen A. Mortality and life-table in Down's syndrome. Acta Paediatr Scand. 1975 Mar;64(2):322-6.

24. Mikkelsen M, Hansson A, Jacobsen P, Hobolth N. Translocation (13q21q).  Four generation family study with analysis of satellite associations, fluorescent markers, and prenatal diagnosis. Humangenetik. 1975;27(4):303-7.

23. Vestermark S, Mikkelsen M. Monosomy 21, G-deletion syndrome I, Anti-mongolism Ugeskr Laeger. 1974 Aug 12;136(33):1857.
Philip J, Bang J, Hahnemann N, Mikkelsen M, Niebuhr E, Rebbe H, Weber J. Prenatal chromosome analysis in risk fetuses Ugeskr Laeger. 1974 Jul 15;136(29):1621-4.

22. Mikkelsen M. Rare translocation 47,XY,t(12;21) in Down's syndrome. Hum Hered. 1974;24(2):160-6.

21. Philip J, Bang J, Hahnemann N, Mikkelsen M, Niebuhr E, Rebbe H, Weber J. Chromosome analysis of fetuses in risk pregnancies. Acta Obstet Gynecol Scand Suppl. 1974;29:9-14.

20. Mikkelsen M, Dyggve H. (6;15) Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members. Humangenetik. 1973 May 25;18(3):195-202. No abstract available.

19. Philip J, Lebech P, Niebuhr E, Mikkelsen M. Ovarian stimulation, amniocentesis and prenatal chromosome analysis in a l4-21 translocation carrier with secondary amenorrhea Ugeskr Laeger. 1972 Aug 28;134(35):1850-2. Danish. No abstract available.

18. Mikkelsen M, Stene J. The effect of maternal age on the incidence of Down's syndrome. Humangenetik. 1972;16(1):141-6.

17. Skinhoj P, Dietrichson O, Dyggve H, Mikkelsen M, Petersen P, Stene J. Hepatitis and hepatitis associated antigen (HAA) in Down's syndrome. J Ment Defic Res. 1971 Dec;15 Pt 4(0):236-43. No abstract available.

16. Mikkelsen M. Genetic advice in Down's syndrome Nord Med. 1971 Apr 22;85(16):515.

15. Mikkelsen M. Fluorescence microscopic and cytologic examination in Down's syndrome Nord Med. 1971 Apr 22;85(16):515.

14. Mikkelsen M, Niebuhr E, Warburg M. Down's syndrome. Mongolism, trisomy 21 Ugeskr Laeger. 1971 Apr 2;133(13):596-7.

13. Mikkelsen M. Down's syndrome--mongolism Tidsskr Sygepl. 1971 Apr;71(4):132-5.

12. Mikkelsen M. Down's syndrome. Current stage of cytogenetic research. Humangenetik. 1971;12(1):1-28.

11. Mikkelsen M. Identification of G group anomalies in Down's syndrome by quinacrine dihydrochloride fluorescence staining. Humangenetik. 1971;12(1):67-73.

10. Mikkelsen M, Stene J. Genetic counselling in Down's syndrome. Hum Hered. 1970;20(5):457-64. No abstract available.

 9. Mikkelsen M, Mortensen E, Skakkebaek NE, Yssing M. Familial reciprocal translocation between a C group (12?) chromosome and a late labelling G chromosome. Acta Genet Stat Med. 1968;18(3):241-50.

 8. Mikkelsen M. DNA replication analysis of six 13-15--21 translocation families. Ann Hum Genet. 1967 May;30(4):325-8.

 7. Mikkelsen M. Transmission of a 13-15-21 translocation in six families. Ann Hum Genet. 1966 Nov;30(2):147-61.

 6. Mikkelsen M. Familial Down's syndrome. A cytogenetical and genealogical study of twenty-two families. Ann Hum Genet. 1966 Nov;30(2):125-46.

 5. Mikkelsen M, Skovpetersen G, Arne Bogh. Chromosomal studies in patients with Down's Syndrome (Mongolism) and leukemia. Ugeskr Laeger. 1964 Oct 1;126:1365-8.

 4. Brandt Nj, Froland A, Mikkelsen M, Nielsen A, Tolstrup N. Galactosaemia Locus And The Down's Syndrome Chromosome. Lancet. 1963 Oct 5; 54:700-3.

 3. Jacobsen P, Dupont A, Mikkelsen M. Translocation In The 13-15 Group As a cause of partial trisomy and spontaneous abortion in the same family. Lancet. 1963 Sep. 14;18:584-5.

 2. Froland A, Mikkelsen M. Ugeskr Laeger. 1962 Mar 30;124:421-34.

 1. Mikkelsen M, Melchior Jc. Mongoloid twins with trisomy of chromosome no. 21. Acta Genet Stat Med. 1962;12:164-71.

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