M. Bugge

发表

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

N. Tommerup, J. Russo, C. Hsieh, 1999, Nature.

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

N. Tommerup, H. Ropers, E. Niebuhr, 2007, Human Genetics.

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Kim R. Rasmussen, C. Lundsteen, N. Tommerup, 2000, Journal of medical genetics.

The Genetic Basis of the Pierre Robin Sequence

N. Tommerup, J. Fryns, M. Knudsen, 2006, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Non-disjunction of chromosome 13.

C. Lundsteen, N. Tommerup, H. Eiberg, 2007, Human molecular genetics.

Monozygotic twins discordant for exstrophy of the urinary bladder.

M. Bugge, 1981, Journal of medical genetics.

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

Z. Tümer, N. Tommerup, R. Møller, 2008, Epilepsia.

Apolipoprotein E alleles in mothers of trisomy 18 conceptuses

C. Hansen, M. Petersen, M. Mikkelsen, 1998, Clinical genetics.

DNA studies of mono‐ and pseudodicentric isochromosomes 18q

M. Petersen, M. Bugge, C. Brandt, 2004, American journal of medical genetics. Part A.

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

E. Blennow, S. Kitsiou‐Tzeli, A. Tsezou, 1998, European Journal of Human Genetics.

Analysis of the Origin of the Extra Chromosome in Trisomy 8 in 4 Cases of Spontaneous Abortions

G. Karadima, D. Vassilopoulos, K. Brøndum‐Nielsen, 1998, Fetal Diagnosis and Therapy.

A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin

C. Gravholt, M. Petersen, M. Bugge, 1997, Clinical genetics.

Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation

N. Tommerup, E. Blennow, D. Avramopoulos, 1996, European journal of human genetics : EJHG.

Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta

H. Kuivaniemi, G. Tromp, D. Prockop, 1996 .

Obstetrical and gynecological complications in fragile X carriers: a multicenter study.

R. Stevenson, C. Schwartz, R. Hagerman, 1994, American journal of medical genetics.

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Communications.

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

J. Opitz, N. Tommerup, C. Hansen, 2002, American journal of medical genetics.

De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder

C. Lundsteen, M. Kirchhoff, M. Rethoré, 2004, American journal of medical genetics. Part A.

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

S. Antonarakis, M. Petersen, M. Mikkelsen, 1997, Human Genetics.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

M. Warburg, K. Brøndum‐Nielsen, M. Bugge, 1995, Journal of medical genetics.

Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis.

M. Bugge, M. F. Christensen, M. Petersen, 1994, American journal of medical genetics.

Abdominal wall defects in Denmark, 1970-89.

N. Holm, M. Bugge, 2002, Paediatric and perinatal epidemiology.

An excess of chromosome 1 breakpoints in male infertility

R. Stallings, C. Lundsteen, Z. Tümer, 2004, European Journal of Human Genetics.

Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations

M. Nir, M. Bugge, J. Hahnemann, 2005, American journal of medical genetics. Part A.

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases

M. Bak, M. Petersen, M. Bugge, 2005, American journal of medical genetics. Part A.

Non-disjunction of chromosome 18.

N. Morton, M. Bak, K. Brøndum‐Nielsen, 1998, Human molecular genetics.

500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip

N. Tommerup, H. Eiberg, R. Ullmann, 2011, American Journal of Medical Genetics. Part A.

Body stalk anomaly in Denmark during 20 years (1970–1989)

M. Bugge, 2012, American journal of medical genetics. Part A.

Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.

C. Lundsteen, M. Rethoré, M. Bugge, 2004, Annales de genetique.

Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome

N. Tommerup, H. Ropers, T. Haaf, 2001, Journal of medical genetics.

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.

Z. Tümer, N. Tommerup, Y. Mang, 2011, European journal of medical genetics.

Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

N. Tommerup, V. Kalscheuer, M. Bak, 2019, Human mutation.

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

N. Tommerup, T. Haaf, C. Menzel, 1999, Journal of medical genetics.

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

E. Mariman, A. Silahtaroglu, Z. Tümer, 1999, European Journal of Human Genetics.

Twins with omphalocele in Denmark (1970–1989)

M. Bugge, 2010, American journal of medical genetics. Part A.

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

C. Lundsteen, T. Gerdes, Z. Tümer, 2000, European Journal of Human Genetics.

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

J. Hilden, C. Lundsteen, N. Tommerup, 2006, European Journal of Human Genetics.

Abdominal Wall Defects in Greenland 1989-2015.

E. Budtz-Jørgensen, N. Tommerup, H. Eiberg, 2017, Birth defects research.

Microdissection - a precise method to disclose the parental origin of supernumerary marker chromosomes.

K. Brøndum‐Nielsen, M. Bugge, U. Friedrich, 2000, Annales de genetique.

Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

Z. Tümer, N. Tommerup, H. Ropers, 2004, Journal of Medical Genetics.

EARLY PRENATAL DIAGNOSIS OF OMPHALOCELE CONSTITUTES INDICATION FOR AMNIOCENTESIS

M. Bugge, M. Hauge, J. Nielsen, 1983, The Lancet.

Human Mutation

N. Tommerup, V. Kalscheuer, M. Bak, 2019 .

rearrangements: a resource for large scale genotype-phenotype delineation in man

C. Lundsteen, N. Tommerup, E. Niebuhr, 2022 .