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Sidst opdateret: 16/11 2017
Menkes publikationer
Kontakt: Lisbeth Birk Møller

 

82. 

Lenartowicz M, Krzeptowski W, Koteja P, Chrzascik K, Møller LB
Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC).
PLoS One. 2012;7(7):e40400. Epub 2012 Jul 18

81. 

Galve J, Vicente A, González-Enseñat MA, Pérez-Dueñas B, Cusí V, Møller LB, Julià M, Domínguez A, Ferrando J.
Neonatal erythroderma as a first manifestation of menkes disease.
Pediatrics. 2012 Jul;130(1):e239-42. Epub 2012 Jun 18

80. 

Møller LB, Lenartowicz M, Zabot MT, Arnaud J, Burglen L, Bennett C, Riconda D, Janssens S, Fisher R, Mohammed S, Ausems M, Tümer Z, Horn N, Jensen TG.
Clinical expression of Menkes disease in females with normal karyotype.
Orphanet Journal of Rare Diseases Orphanet J Rare Dis. 2012 Jan 22;7(1):6. [Epub ahead of print]

79. 

Tümer Z, Klomp G.
Clinical utility gene card for: Menkes Disease.
Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.56. Epub 2011 Apr 13.

78.

Møller LB, Ott P, Lund C, Horn N: Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations. Am J Med Genet 138:340-343,2005.

77.

Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M: Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. J Inherit Metab Dis 28:479-492, 2005.

76.

Møller LB, Thostrup Bukrinsky J, Mølgaard A, Tümer Z, Larsen S, Horn N: Identification, location and functional effect of missense mutations in the Menkes disease Cu-ATPase. Hum Mutat 26:84-93, 2005.

75.

Poulsen L, Møller LB, Plunkett K, Belmont J, Tümer Z, Horn N: First Description of Germline Mosaicism in X-linked Menkes Disease. Genet Test 8: 286-291, 2004.

74.

Gérard-Blanluet M, Møller LB, Caubel I, Gélot A, Billette de Villemeur T, Horn N: Early development of occipital horns in a classical Menkes patient. Am J Med Genet 130A: 211-213, 2004.

73.

Borm B, Møller LB, Hausser I, Emeis M, Baerlocher K, Horn N, Rossi R: Variable clinical expression of an identical mutation in the ATP7A gene for Menkes Disease/Occipital Horn Syndrome in three affected males in a single family. J Pediat 145: 119-121, 2004.

72.

Tümer Z, Møller LB, Horn N: Screening of ATP7A deletions in 382 patients affected with Menkes disease. Hum Mut 22: 457-464, 2003.

71.

Poulsen L, Horn N, Tümer Z, Heilstrup H, Lund C, Møller LB: X-linked Recessive Menkes Disease: Identification of Partial Gene Deletions in Affected Males. Clin Genet 62, 449-457, 2002.

70.

Poulsen L, Horn N, Møller LB: X-linked Recessive Menkes Disease: Carrier Detection in Case of a Partial Gene Deletion. Clin Genet 62: 440-448, 2002.

69.

Horn N, Tümer Z: Menkes Disease and the Occipital Horn Syndrome. In ‘Connective tissue and its heritable disorders’ 2nd ed. (Royce P, Steinmann B, eds.) Wiley-Liss, New York, chap. 14, pp 651-685, 2002.

67.

Seidel J, Møller LB, Mentzel H-J, Kauf E, Vogt S, Patzer S, Wollina U, Zintl F, Horn N: Disturbed Copper Transport in Humans, Part 1: Mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. Cell Mol Biol (Noisy-le-grand), 47 online Pub: OL141-148, 2001.

66.

Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H: Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper chaperone, is rescued by copper in human myoblasts. Hum Mol Genet 10: 3025-3035, 2001.

65.

Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz L-D, Shoubridge EA, Krägeloh-Mann I, Lochmüller H, Freisinger P: Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy an neuropathy. Neurol 57: 1440-1446, 2001.

64.

Petersen C, Møller LB: Maintenance of copper homeostasis in Escherichia coli by a protein homologous to the human P-type ATPase affected in Menkes and Wilsons disease. Gene 261: 289-298, 2000.

63.

Møller LB, Petersen C, Lund C, Horn N: Characterization of the hCTR1 gene: Genomic organization, functional expression, and identification of a highly homologous processed gene. Gene 567, 13-22, 2000.

62.

Møller LB, Tümer Z, Lund C, Cole T, Hanusch R, Seidel J, Horn N: Similar splicing mutations of the ATP7A gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome. Am J Hum Genet 66:1211-1220, 2000.

61.

Heydorn K, Damsgaard E, Horn N: Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens. J Biol Trace Elem Res 71-72: 551-561, 1999.

60.

Jensen PY, Bonander N, Møller LB, Farver O: Cooperative binding of copper(I) to the metal binding domains in Menkes disease protein. Biochim Biophys Acta 1434: 103-113, 1999.

59.

Jensen PY, Bonander N, Tümer Z, Horn N, Farver O: Expression, purification and copper binding studies of the first metal binding domain of Menkes protein, ATP7A. Eur J Biochem 264: 890-896, 1999.

58.

Horn N, Tümer Z: Molecular genetics of intracellular copper transport. J Trace Elem Exp Med 12:297-313,1999.

57.

Tümer Z, Møller LB, Horn N: Mutation Spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol, 448:83-95, 1999.

56.

Jankov RP, Boerkoel CF, Hellmann J, Sirkin WL, Al-Maghrabi J, Tümer Z, Horn N, Feigenbaum A.: Lethal neonatal Menkes disease with severe vasculopathy and fractures, Acta Paediatr 87:1297-1300, 1998.

55.

Tümer Z: Genetics of Menkes disease. J Trace Elem Exp Med 11: 147-161,1998.

54.

Jensen PY, Bonander N, Karlsson BG, Horn N, Tümer Z, Farver O: Investigation of the copper-binding sites, in the Menkes disease protein, ATP7A (1998) J Inh Metab Dis 21:195-198, 1998.

53.

Tümer Z, Horn N: Menkes disease: Underlying genetic defect and new diagnostic possibilities. J Inh Metab Dis, 21:604-612, 1998.

52.

Kaler S, Tümer Z: Prenatal Diagnosis of Menkes disease. Prenat Diagn, 18:287-289, 1998.

51.

Christodoulou, J, Danks DM, Sarkar B, Baerlocher K, Mercer J, Tümer Z, Horn N, Clarke JTR: Early treatment of Menkes disease with parenteral copper-histidine: An update of four treated patients. Am J Med Genet, 76:154-164, 1998.

50.

Masson W, Horn N, Hughes H, Boyd Y: Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes' disease. J Med Genet, 34: 729-732, 1997.

49.

Tümer Z, Horn N: Menkes Disease: Recent advances and new aspects. J Med Genet 34: 265-274, 1997.

48.

Tümer Z, Lund C, Tolshave J, Vural B, Tønnesen T, Horn N: Identification of mutations in 41 unrelated Menkes patients using single-strand conformation analysis and direct sequencing. Am J Hum Genet, 60: 63-71, 1997.

47.

Heydorn K, Damsgaard E, Horn N, Tønnesen T, Kaitila I: A comparison of trace element distribution in occipital horn syndrome and Menkes disease with normal subjects by neutron activation analysis. J Trace Elem Exper Med 8, 241-247, 1995/1996.

46.

Tümer Z, Horn N, Tønnesen T, Christodoulou J, Clarke K.T.R., Sarkar B: The molecular genetic evidence for the efficacy of early copper-histidine treatment of Menkes disease. Nature Genetics 12, 11-13, 1996.

45.

Tümer Z, Horn N: Menkes disease: Recent Advances and New Insights into Copper Metabolism. Ann Med 28, 121-129, 1996.

44.

Hærslev T, Krag Jacoben G, Horn N, Damsgaard E: Metallothionein expression in placental tissue in Menkes' disease. An immunohistochemical study. APMIS 103, 568-573, 1995.

43.

Tümer Z, Vural B, Tønnesen T, Chelly J, Monaco AP, Horn N: Characterization of the exon structure of the Menkes Disease Gene Using Vectorette PCR. Genomics 26:437-442,1995.

42.

George AM, Reed V, Chelly J, Tümer Z, Chartier F, Brown SDM, Horn N, Monaco AP, Boyd Y: Physical linkage of the murine homologue of Menkes' syndrome (Mnk) and phosphoglycerate kinase (Pgk-1): analysis of Mnk in mottled mutants using PFGE. Genomics 22: 27-32, 1994.

41.

Beck J, Enders H, Schliephacke M, Buchwald-Saal M, Tümer Z: X;1 translocation in a female Menkes patient: Characterization by fluorescence in situ hybridization. Clin Genet, 46: 295-298, 1994.

40.

Tümer Z, Tønnesen T, Böhman J, Marg W, Horn N: First trimester prenatal diagnosis of Menkes disease by DNA analysis. J Med Genet, 31: 615-617, 1994.

39.

Tümer Z, Tønnesen T, Horn N: Detection of Genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis. J Inher Met Dis, 17: 267-270, 1994.

38.

Kreuder J, Otten A, Fuder H, Tümer Z, Tønnesen T, Horn N, Dralle D: Biochemical and clinical consequences of copper-histidine therapy in Menkes disease. Eur J Pediatr, 152: 828-832, 1993.

37.

Tommerup N, Tümer Z, Tønnesen T, Horn N: A cytogenetic survey in Menkes disease. Implications for detection of chromosomal rearrangements in X-linked disorders. J Med Genet, 30: 314-315, 1993.

36.

Chelly J, Tümer Z, Tønnesen T, Petterson A, Ishikawa-Brush, Tommerup N, Horn N, Monaco AP: Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet 3: 14-19, 1993.

35.

Horn N, Tønnesen T, Tümer Z: Menkes Disease: An X-linked Neurological Disorder of the Copper Metabolism, Brain Pathol, 2, 351-362, 1992.

34.

Tümer Z, Chelly J, Tommerup N, Ishikawa-Brush Y, Tønnesen T, Monaco AP, Horn N: Characterization of a 1.0 Mb YAC Contig Spanning Two Chromsome Breakpoints Related to Menkes Disease. Hum Mol Genet, 1: 483-489,1992.

33.

Tønnesen T, Petterson A, Kruse TA, Gerdes A-M, Horn N: Multi-point linkage Analysis in Menkes disease. Am J Hum Genet 50: 1012-1017, 1992.

32.

Tümer Z, Tommerup N, Tønnesen T, Kreuder J, Craig IW, Horn N: Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. Hum Genet, 88, 668-672, 1991.

31.

Tønnesen T, Kleijer WJ, Horn N: Incidence of Menkes disease. Human Genet 86, 408-410, 1991.

30.

Tønnesen T, Garrett T, Gerdes AM: High 64Cu uptake and retention values in two clinically atypical Menkes patients. J Med Genet 28, 615-618, 1991.

29.

Gerdes A-M, Tønnesen T, Horn N, Grisar T, Marg W, Müller A, Reinsch R, Baron NW, Guiraud P, Joannard A, Richard MJ, Güttler F: Clinical expression of Menkes syndrome in females. Clin Genet 38, 452-459, 1990.

28.

Tønnesen T, Gerdes A-M, Horn N: Er Menkes' sygdom forsvundet? Klinisk billede og postnatal diagnostik. Ugeskr Lg 151, 2975-2977, 1989.

27.

Tønnesen T, Horn N: Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism. J Inher Metab Dis 12 suppl. 1, 207-214, 1989.

26.

Gerdes A-M, Tønnesen T, Pergament E, Sander C, Baerlocher KE, Wartha R, Güttler F, Horn N: Variability in clinical expression of Menkes syndrome. Eur J Paed 148, 132-135, 1988.

25.

Tønnesen T, Gerdes A-M, Damsgaard E, Miny P, Holzgreve W, Søndergaard F, Horn N: First trimester diagnosis of Menkes disease: Intermediate copper values in chorionic villi from three affected male fetuses. J Prenat Diagn 9, 159-165, 1989.

24.

Sander C, Niederhoff H, Horn N: Life Duration and Menkes Kinky Hair Syndrome: Report of a 13 year course of this disease. Clin Genet 33, 228-233, 1988.

23.

Tønnesen T, Silengo M, Gerdes A-M, Hansen JC, Reske-Nielsen E, Franceschini P, Horn N: Post mortem Menkes diagnosis for carrier testing of female relatives. Clin Genet 32, 393-397, 1987.

22.

Tønnesen T, Horn N, Søndergaard F, Jensen OA, Girard S, Damsgaard E: Experience with 1st trimester diagnosis of Menkes disease. J Prenat Diagn, 7, 497-509,1987.

21.

Horn N, Morton N: Genetic Epidemiology of Menkes Disease. Genet Epidemiol 3, 225 230, 1986.

20.

Tønnesen T, Müller Schauenburg G, Damsgaard E, Horn N: Copper measurement in a muscle biopsy. Another possible method for diagnosis of Menkes disease. Clin Genet 29, 258 261, 1986.

19.

Tønnesen T, Horn N, Søndergaard F, Mikkelsen M, Boue J, Damsgaard E, Heydorn K: Increased copper content in chorionic villi in first trimester prenatal diagnosis for Menkes disease. Lancet i, 1038, 1985.

18.

Horn N: Copper Metabolism in Menkes Disease. In ‘Metabolism of Trace Metals in Man: Developmental Biology and Genetic Implications’, (Rennert OM, Chan WY, eds.) CRC Press Inc., Boca Raton, Florida,1984, vol. 2, chap.3, pp 25-52.

17.

Wienker TF, Wieacker P, Cooke HJ, Horn N, Ropers HH: Evidence that Menkes locus maps on proximal Xp. Human Genet 65, 72 73, 1984.

16.

Horn N, Stene J, Møllekær A M, Friedrich U: Linkage Studies in Menkes Disease: The Xg blood group system and C banding of the X chromosome. Ann Hum Genet 48, 161 171, 1984.

15.

Wieacker P, Horn N, Pearson P, Wienker TF, McKay E, Ropers HH: Menkes kinky hair disease: A search for closely linked restriction fragment length polymorphism. Human Genet 64, 139 142, 1983.

14.

Peltonen L, Kuivaniemi H, Palotie A, Horn N, Kaitila I, Kivirikko KI: Alterations of Copper and Collagen Metabolism in Menkes Syndrome and a New Subtype of Ehlers Danlos Syndrome. Biochemistry 22, 6156 6162, 1983.

13.

Baerlocher K, Steinmann B, Rao VH, Gitselmann R, Horn N: Menkes disease /Md): Clinical, Therapeutical and Biochemical Studies. J Inher Metab Dis 6. Suppl. 2, 87 88, 1983.

12.

Horn N: Menkes X Linked Disease: Prenatal diagnosis and Carrier Detection. J Inher Metab Dis 6, Suppl. 1, 59 62, 1983.

11.

Horn N: Menkes X Linked Disease: Prenatal Diagnosis of Hemizygous Males and Heterozygous Females. J Prenat Diagn, 1, 107 120, 1981.

10.

Horn N, Mooy P, McGuire VM: Menkes X linked disease: Two cloned cell populations in heterozygotes. J Med Gen 17, 262 266, 1980.

9.

Horn N: Menkes X linked disease: Heterozygous phenotype in uncloned fibroblast cultures. J Med Gen 17, 257-261, 1980. 

8.

Horn N, Jensen OA: Menkes Syndrome: Subcellular distribution of copper by an ultrastructural histochemical technique. Ultrastruct Pathol 1, 237 242, 1980.

7.

Horn N: Prænatal diagnostik af Menkes' sygdom. Ugeskr Lg 141/47, 3220 3222, 1979.

6.

Horn N, Heydorn K, Damsgaard E, Tygstrup I, Vestermark S: Is Menkes syndrome a copper storage disorder? Clin Genet 14, 186 187, 1978.

5.

Horn N, Warburg M: Menkes Disease. Birth Defects: Original Article Series, Vol. XII, No. 3, 556 562, 1976.

4.

Horn N: Copper Incorporation Studies on Cultured Cells for Prenatal Diagnosis of Menkes' Disease. Lancet i, 1156 - 1158, 1976.

3.

Horn N, Mikkelsen M, Heydorn K, Damsgaard E, Tygstrup I: Copper and steely hair. Lancet i, 1236, 1975.

2.

Heydorn K, Damsgaard E, Horn N, Mikkelsen M, Tygstrup I, Vestermark S, Weber J: Extra Hepatic Storage of Copper. A Male Foetus Suspected of Menkes' Disease. Human Genet 29, 171 175, 1975.

1.

Horn N, Damsgaard E, Tygstrup I: Der Fetale Kupfertransport beim Menkes' Syndrom. Mschr Kinderheilk 123, 482 483, 1975.


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