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Center director:
Prof. Niels Tommerup
tommerup@imbg.ku.dk







Centre contact information

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Merete Bugge

Visiting scientist / Gæsteforsker

Curation of Mendelian Cytogenetics Network database (MCNdb). Visit participants of Mendelian Cytogenetics Network. Genetics of VATER association. Genetics of abdominal wall defects. Parental origin of chromosomal non-disjunction. Parental origin and mechanism of formation of isochromosomes 18 and 13. Pedegree studies

Emailmb@imbg.ku.dk
Office22.4.33
Phone27809

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Publications related to WJC

18.   Bugge M. Body stalk anomaly in Denmark during 20 years (1970-1989). Am J Med Genet A. 2012;158A:1702-8.
 
17.   Gilling M, Lind-Thomsen A, Mang Y, Bak M, Møller M, Ullmann R, Kristoffersson U, Kalscheuer VM, Henriksen KF, Bugge M, Tümer Z, Tommerup N. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet. 2011;54:e383-8.
 
16.   Jakobsen LP, Bugge M, Ullmann R, Schjerling CK, Borup R, Hansen L, Eiberg H, Tommerup N. 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip. Am J Med Genet A. 2011;155A:652-5.
 
15.   Bugge M. Twins with omphalocele in Denmark (1970-1989). Am J Med Genet A. 2010;152A:2048-52.
 
14.   Moller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z. Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. Epilepsia. 2008;49:1091-4.
 
13.   Bugge M, Collins A, Hertz JM, Eiberg H, Lundsteen C, Brandt CA, Bak M, Hansen C, Delozier CD, Lespinasse J, Tranebjaerg L, Hahnemann JM, Rasmussen K, Bruun-Petersen G, Duprez L, Tommerup N, Petersen MB. Non-disjunction of chromosome 13. Hum Mol Genet. 2007;16:2004-10.
 
12.   Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann L, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers H-H, Ullmann R. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet. 2007;121:501-9.
 
11.   Bache I, Hjorth M, Bugge M, Holstebroe S, Hilden J, Schmidt L, Brondum-Nielsen K, Bruun-Petersen G, Jensen PK, Lundsteen C, Niebuhr E, Rasmussen K, Tommerup N. Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. Eur J Hum Genet. 2006;14:410-7.
 
10.   Jakobsen LP, Knudsen MA, Lespinasse J, Garcia Ayuso C, Ramos C, Fryns JP, Bugge M, Tommerup N. The Genetic Basis of the Pierre Robin Sequence. Cleft Palate Craniofac J. 2006;43:155-9.
 
9.   Hahnemann JM, Nir M, Friberg M, Engel U, Bugge M. Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations. Am J Med Genet A. 2005;138:150-4.
 
8.   Bugge M, Delozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases. Am J Med Genet A. 2005;132A:310-3.
 
7.   Bache I, Assche EV, Cingoz S, Bugge M, Tumer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, FitzPatrick DR, Grace E, Hansmann I, Hulten M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, Van Der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet. 2004;12:993-1000.
 
6.   Lespinasse J, Rethore MO, North MO, Bovier-Lapierre M, Lundsteen C, Fert-Ferrer S, Bugge M, Kirchoff M. Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases. Ann Genet. 2004;47:315-24.
 
5.   Lespinasse J, Bugge M, Rethore MO, North MO, Lundsteen C, Kirchhoff M. De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder. Am J Med Genet A. 2004;128:199-203.
 
4.   Bugge M, Brandt CA, Petersen MB. DNA studies of mono- and pseudodicentric isochromosomes 18q. Am J Med Genet A. 2004;127:230-3.
 
3.   Hertz JM, Sivertsen B, Silahtaroglu A, Bugge M, Kalscheuer V, Weber A, Wirth J, Ropers HH, Tommerup N, Tumer Z. Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13). J Med Genet. 2004;41:e25 (doi: 10.1136/jmg.2003.011510).
 
2.   Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, Tommerup N, Opitz JM. HOXD 13 polyalanine tract expansion in classical synpolydactyly Type Vordingborg. Am J Med Genet. 2002;110:116-21.
 
1.   Bugge M, Holm NV. Abdominal wall defects in Denmark, 1970-89. Paediatr Perinat Epidemiol. 2002;6:73-81.
 

Presentations related to WJC

First International Biocurator Meeting
Asilomar, CA, USA, December 08, 2005
Posters
17.PDF  Hjorth M, Halgren C, Bache I, Bugge M, Tommerup N. Mendelian Cytogenetic Network Database, www.mcndb.org.
 
The Marie-Curie Conferences and Training Courses on array CGH and molecular cytogenetics
Bari,Italy, October 18, 2005
Posters
16.PDF  Zhang L, Bækvad-Hansen M, Bache I, Bugge M, Ashraf I, Ramsoe J J, Tommerup N, Tumer Z, Larsen L A. FISH Mapping of Chromosomal Breakpoints Associated with Congenital Heart Defects.
 
European Human Genetics Conference 2005 (ESHG 2005)
Prague, May 07, 2005
Posters
15.PDF  Hjorth M, Engenheiro E, Holstebroe S, Bache I, Bugge M, Tumer Z, Tommerup N. Visualization of 2260 chromosomal breakpoints in Mendelian Cytogenetics Network database associated with Mental Retardation.
 
54th Meeting of the American Society of Human Genetics
Toronto, Canada, October 25, 2004
Posters
14.PDF  Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB. Trisomy 13 due to rea(13;13) de novo is caused by i(13;13) and not t(13;13) in the majority of cases.
 
XVIIième Colloque de L'Association des Cytogénéticiens de Langue Francaise
Université de Versailles Saint Quentin en Yvelines, September 19, 2004
Posters
13.PDF  Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB. La trisomie 13 due à rea(13;13) de novo est causée par un isochromosome (13;13) et non pas par translocation (13;13) dans la majorité des cas.
 
European Human Genetics Conference 2004
Münich, June 11, 2004
Posters
12.PDF  Hjorth M, Holstebroe S, Bache I, Bugge M, Tumer Z, Tommerup N. A method for prediction of candidate disease genes and regions by integration of positional, functional and clinical data.
 
53rd Meeting of the American Society of Human Genetics
Los Angeles, USA, November 03, 2003
Posters
11.PDF  Bugge M, Brandt CA, Petersen MB. DNA Studies of Mono- and Pseudodicentric Isochromosomes 18. Am J Hum Genet 2003;73:299 poster 757.
 
Association des Cytogénéticiens de Langue Francaise XVIème Colloque
Geneve, Switzerland, September 21, 2003
Posters
10.PDF  Bugge M, Brandt CA, Petersen MB. DNA Studies of Mono- and Pseudodicentric Isochromosomes 18.
 
4th European Cytogenetics Conference
Bologna, Italy, September 05, 2003
Posters
9.PDF  Bugge M, Brandt CA, Petersen MB. DNA Studies of Mono- and Pseudodicentric Isochromosomes 18.
 
European Human Genetics Conference 2003
Birmingham, England, May 02, 2003
Posters
8.PDF  Bache I, Brondum-Nielsen K, Bugge M, Hansen J, Jensen PKA, Lundsteen C, Niebuhr E, Petersen GB, Rasmussen K, Ropers HH, Tommerup N. Search for late onset diseases among carriers of balanced chromosomal rearrangements.
 
7.PDF  Nickelsen LA, Bugge M, Kalscheuer V, Tommerup N, Tumer Z. Characterisation of chromosomal breakpoints in patients with hearing loss and microcephaly.
 
6.PDF  Gilling M, Tumer Z, Bache I, Bak M, Niebuhr E, Bugge M, Cotterill R M J K. Brøndum-Nielsen3, U. Kristoffersson4, H-H. Ropers 5, N. Tommerup1. FISH-mapping of translocation breakpoints associated with autism.
 
52nd Annual Meeting of The American Society of Human Genetics
Baltimore, Maryland, USA, October 14, 2002
Posters
5.   Bugge M, Petersen MB, Bak M, Brandt CA, Hertz JM, Tranebjaerg L, Delozier-Blanchet CD, Petersen GB, Lundsteen C, Lespinasse J, Rasmussen K, Mikkelsen M. Nondisjunction studies in trisomy 13. Am J Human Genet 2002;71 (supp): 292 (Poster 704).
 
Association des Cytogénéticiens de Langue Francaise
Toulouse, France, September 15, 2002
Posters
4.   Bugge M, Petersen MB, Bak M, Brandt CA, Hertz JM, Tranebjaerg L, Delozier-Blanchet CD, Petersen GB, Lundsteen C, Lespinasse J, Rasmussen K, Mikkelsen M. Non-disjonction de trisomie 13.
 
European Human Genetics Conference 2002
Strasbourg, France, May 24, 2002
Oral presentations
3.   Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Opitz JM, Tommerup N. A systematic study of limb defects in Denmark. Eur J Hum Genet 2002:10(supp);67 (C31).
 
2.   Ruiz-Casares E, Tumer Z, Bugge M, Henriques-Gil N, Rodriguez L, Lopez F, Kroisel P, Wagner K, Lundsteen C, Kalscheuer V, Tommerup N. Mapping of chromosomal breakpoints associated with orofacial clefts. Eur J Hum Genet 2002:10(supp);161 (poster 0418).
 
1ère Assises de Génétique Humaine et Médicale
Marseille, France, January 17, 2002
Posters
1.   Lespinasse J, Fer-Ferer S, Lundsteen C, Paravy C, Brunel MJ, Curtaud MF, Revel L, Réthoré MO, Kirshoff M, Romana S, Guzzo N, Chazalet S, Favre A, Quack B, Bugge M. Remainiements Chromosomiques complexes (5 nouveaux cas) et remainiment chromosomique multiple (1 nouveau cas): l'apport des outils de la génétique moléculaire et concequences sur le conseil génétique.
 

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