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Merete Bugge

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Merete Bugge
Body stalk anomaly in Denmark during 20 years (1970-1989).
Mette Gilling; Karen Friis Henriksen; Vera M Kalscheuer; Ulf Kristoffersson; Allan Lind-Thomsen; Yuan Mang; Morten Møller; Mads Bak; Merete Bugge; Zeynep Tümer; Reinhard Ullmann; Niels Tommerup
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
Linda P Jakobsen; Merete Bugge; Reinhard Ullmann; Charlotte K Schjerling; Rehannah Borup; Lars Hansen; Hans Eiberg; Niels Tommerup
500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip.

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All Publications

2012: Merete Bugge
Body stalk anomaly in Denmark during 20 years (1970-1989).
American journal of medical genetics. Part A 2012;158A(7):1702-8.
2011: Mette Gilling; Karen Friis Henriksen; Vera M Kalscheuer; Ulf Kristoffersson; Allan Lind-Thomsen; Yuan Mang; Morten Møller; Mads Bak; Merete Bugge; Zeynep Tümer; Reinhard Ullmann; Niels Tommerup
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
European journal of medical genetics 2011;54(4):e383-8.
2011: Linda P Jakobsen; Merete Bugge; Reinhard Ullmann; Charlotte K Schjerling; Rehannah Borup; Lars Hansen; Hans Eiberg; Niels Tommerup
500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip.
American journal of medical genetics. Part A 2011;155A(3):652-5.
2010: Merete Bugge
Twins with omphalocele in Denmark (1970-1989).
American journal of medical genetics. Part A 2010;152A(8):2048-52.
2007: Merete Bugge; ANDREW COLLINS; Jens Michael Hertz; Hans Eiberg; Claes Lundsteen; Carsten A Brandt; Mads Bak; Claus Hansen; Celia D Delozier; James Lespinasse; Lisbeth Tranebjaerg; Johanne M D Hahnemann; Kirsten Rasmussen; Gert Bruun-Petersen; Laurence Duprez; Niels Tommerup; Michael B Petersen
Non-disjunction of chromosome 13.
Human molecular genetics 2007;16(16):2004-10.
2007: Vera Kalscheuer; David FitzPatrick; Niels Tommerup; Merete Bugge; Erik Niebuhr; Luitgard M Neumann; Andreas Tzschach; Sarah A Shoichet; Corinna Menzel; Fikret Erdogan; Ger Arkesteijn; Hans-Hilger Ropers; Reinhard Ullmann
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Human genetics 2007;121(3-4):501-9.
2006: Iben Bache; Mads Hjorth; Merete Bugge; Søren Holstebroe; Jørgen Hilden; Lone Schmidt; karen brondum-nielsen; Gert Bruun-Petersen; Peter Koch Jensen; Claes Lundsteen; Erik Niebuhr; Kirsten Rasmussen; Niels Tommerup
Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases.
European journal of human genetics : EJHG 2006;14(4):410-7.
2006: Linda P Jakobsen; Mary A Knudsen; James Lespinasse; Carmen García Ayuso; Carmen Ramos; Jean-Pierre Fryns; Merete Bugge; Niels Tommerup
The genetic basis of the Pierre Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(2):155-9.
2005: Johanne M D Hahnemann; Marta Nir; M Friberg; Ulla Engel; Merete Bugge
Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations.
American journal of medical genetics. Part A 2005;138A(2):150-4.
2005: Merete Bugge; Celia Delozier-Blanchet; Mads Bak; Carsten A Brandt; Jens Michael Hertz; Jytte Bieber Nielsen; Laurance Duprez; Michael B Petersen
Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases.
American journal of medical genetics. Part A 2005;132A(3):310-3.
2004: James Lespinasse; Merete Bugge; M O Réthoré; MO North; Claes Lundsteen; Maria Kirchhoff
De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder.
American journal of medical genetics. Part A 2004;128A(2):199-203.
2004: James Lespinasse; M O Réthoré; MO North; M Bovier-Lapierre; Claes Lundsteen; Sandra Fert-Ferrer; Merete Bugge; M Kirchoff
Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.
Annales de génétique 2004;47(3):315-24.
2004: Merete Bugge; Carsten A Brandt; Michael B Petersen
DNA studies of mono- and pseudodicentric isochromosomes 18q.
American journal of medical genetics. Part A 2004;127A(3):230-3.
2004: Jens Michael Hertz; B Sivertsen; Asli N Silahtaroglu; Merete Bugge; Vera Kalscheuer; A Weber; Jutta Wirth; Hans-Hilger Ropers; Niels Tommerup; Zeynep Tümer
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13).
Journal of medical genetics 2004;41(3):e25.
2002: Klaus Wilbrandt Kjaer; Jess Hedeboe; Merete Bugge; Claus Hansen; Karen Friis-Henriksen; Maria Baeksted Vestergaard; Niels Tommerup; John M Opitz
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
American journal of medical genetics 2002;110(2):116-21.
2002: Merete Bugge; N V Holm
Abdominal wall defects in Denmark, 1970-89.
Paediatric and perinatal epidemiology 2002;16(1):73-81.
2001: G Borck; Jutta Wirth; T Hardt; Holger Tönnies; Karen Brøndum-Nielsen; Merete Bugge; Niels Tommerup; Hans Gerd Nothwang; Hans-Hilger Ropers; Thomas Haaf
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome.
Journal of medical genetics 2001;38(2):117-21.
2000: Merete Bugge; Gert Bruun-Petersen; Karen Brøndum-Nielsen; UK Friedrich; J Hansen; G Jensen; Peter Koch Jensen; Ulf Kristoffersson; Claes Lundsteen; Erik Niebuhr; K R Rasmussen; Kirsten Rasmussen; Niels Tommerup
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.
Journal of medical genetics 2000;37(11):858-65.
2000: Maria Kirchhoff; H Rose; J Maahr; Tommy Gerdes; Merete Bugge; Niels Tommerup; Zeynep Tümer; James Lespinasse; Peter Koch Jensen; Jutta Wirth; Claes Lundsteen
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.
European journal of human genetics : EJHG 2000;8(9):661-8.
2000: UK Friedrich; Merete Bugge; M Houman; Karen Friis-Henriksen; Karen Brøndum-Nielsen
Microdissection - a precise method to disclose the parental origin of supernumerary marker chromosomes.
Annales de génétique 2000;43(2):109-10.
1999: Jutta Wirth; Hans Gerd Nothwang; Silvère M van der Maarel; Corinna Menzel; G Borck; I Lopez-Pajares; Karen Brøndum-Nielsen; Niels Tommerup; Merete Bugge; Hans-Hilger Ropers; Thomas Haaf
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.
Journal of medical genetics 1999;36(4):271-8.
1999: Asli N Silahtaroglu; Frans A Hol; Peter Koch Jensen; Martin Erdel; Hans-Christoph Duba; MP Geurds; Nine V A M Knoers; Edwin C M Mariman; Zeynep Tümer; Gerd Utermann; Jutta Wirth; Merete Bugge; Niels Tommerup
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
European journal of human genetics : EJHG 1999;7(1):68-76.
1998: GEORGIA KARADIMA; Merete Bugge; P Nicolaidis; Dimitrios Vassilopoulos; Dimitrios Avramopoulos; Maria Grigoriadou; Beate Albrecht; Eberhard Passarge; Göran Annerén; Elisabeth Blennow; Niels Clausen; Angeliki Galla-Voumvouraki; Aspasia Tsezou; Sophia Kitsiou-Tzeli; Johanne M D Hahnemann; Jens Michael Hertz; Gunnar Houge; M Kuklík; Milan Macek Jr.; D Lacombe; K Miller; A Moncla; I López Pajares; Philippos C Patsalis; Michael B Petersen
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
European journal of human genetics : EJHG 1998;6(5):432-8.
1998: Claus Hansen; Merete Bugge; Carsten A Brandt; Jens Michael Hertz; Lisbeth Tranebjaerg; M Mikkelsen; Michael B Petersen
Apolipoprotein E alleles in mothers of trisomy 18 conceptuses.
Clinical genetics 1998;53(4):321-2.
1998: Merete Bugge; ANDREW COLLINS; Michael B Petersen; J Fisher; C Brandt; Jens Michael Hertz; Lisbeth Tranebjaerg; C de Lozier-Blanchet; P Nicolaides; Karen Brøndum-Nielsen; N Morton; M Mikkelsen
Non-disjunction of chromosome 18.
Human molecular genetics 1998;7(4):661-9.
1998: P Nicolaidis; G von Beust; Merete Bugge; GEORGIA KARADIMA; Dimitrios Vassilopoulos; Karen Brøndum-Nielsen; Michael B Petersen
Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions.
Fetal diagnosis and therapy 1998;13(1):42-5.
1997: Oliver Bartsch; Georg Klaus Hinkel; Michael B Petersen; Ulla König; Merete Bugge; M Mikkelsen; Dimitrios Avramopoulos; M Morris; Stylianos Antonarakis
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region.
Human genetics 1997;100(5-6):669-75.
1997: Claus Gravholt; Merete Bugge; H Strømkjaer; M Caprani; U Henriques; Michael B Petersen; Carsten A Brandt
A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin.
Clinical genetics 1997;52(1):56-60.
1996: Merete Bugge; Elisabeth Blennow; U Friedrich; Michael B Petersen; F Pedeutour; Aspasia Tsezou; A Orum; S Hermann; T Lyngbye; Catherine Sarri; Dimitrios Avramopoulos; Sophia Kitsiou-Tzeli; J C Lambert; M Guzda; Niels Tommerup; Karen Brøndum-Nielsen
Tetrasomy 18p de novo: parental origin and different mechanisms of formation.
European journal of human genetics : EJHG 1996;4(3):160-7.
1995: M Warburg; Merete Bugge; Karen Brøndum-Nielsen
Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.
Journal of medical genetics 1995;32(1):19-24.
1994: Merete Bugge; Michael B Petersen; M F Christensen
Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis.
American journal of medical genetics 1994;52(2):223-6.