Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Merete Bugge"'
Autor:
Esben Budtz-Jørgensen, Britta Olsen, Peder Kern, Niels Tommerup, Merete Bugge, Inge-Merete Nielsen, Hans Eiberg, Gitte Drachmann
Publikováno v:
Birth Defects Research. 109:836-842
Background In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as
Autor:
Gert Bruun-Petersen, Celia D. DeLozier, James Lespinasse, Lisbeth Tranebjærg, Laurence Duprez, Carsten A. Brandt, Michael B. Petersen, Merete Bugge, Kirsten Wølch Rasmussen, Niels Tommerup, Johanne M D Hahnemann, Andrew Collins, Hans Eiberg, Mads Bak, Jens Michael Hertz, Claes Lundsteen, Claus Hansen
Publikováno v:
Bugge, M, Collins, A, Hertz, J M, Eiberg, H, Lundsteen, C, Brandt, C A, Bak, M, Hansen, C, Delozier, C D, Lespinasse, J, Tranebjaerg, L, Hahnemann, J M D, Rasmussen, K, Bruun-Petersen, G, Duprez, L, Tommerup, N & Petersen, M B 2007, ' Non-disjunction of chromosome 13 ', Human Molecular Genetics, vol. 16, no. 16, pp. 2004-2010 . https://doi.org/10.1093/hmg/ddm148
Bugge, M, Collins, A, Hertz, J M, Eiberg, H, Lundsteen, C, Brandt, C A, Bak, M, Hansen, C, Delozier, C D, Lespinasse, J, Tranebjaerg, L, Hahnemann, J M D, Rasmussen, K, Bruun-Petersen, G, Duprez, L & Tommerup, N 2007, ' Non-disjunction of chromosome 13. ', Human Molecular Genetics, vol. 16, no. 16, pp. 2004-10 . https://doi.org/10.1093/hmg/ddm148
Bugge, M, Collins, A, Hertz, J M, Eiberg, H, Lundsteen, C, Brandt, C A, Bak, M, Hansen, C, Delozier, C D, Lespinasse, J, Tranebjaerg, L, Hahnemann, J M D, Rasmussen, K, Bruun-Petersen, G, Duprez, L & Tommerup, N 2007, ' Non-disjunction of chromosome 13. ', Human Molecular Genetics, vol. 16, no. 16, pp. 2004-10 . https://doi.org/10.1093/hmg/ddm148
Udgivelsesdato: 2007-Aug-15 We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee4de64d8f8e8f18a695636e5e4b09e2
http://doc.rero.ch/record/292977/files/ddm148.pdf
http://doc.rero.ch/record/292977/files/ddm148.pdf
Autor:
Merete Bugge, Helle Strømkjær, Carsten A. Brandt, Michael B. Petersen, Claus Højbjerg Gravholt, Monna Caprani, U Henriques
Publikováno v:
Scopus-Elsevier
We present an unusual case of trisomy 18 due to a pseudodicentric chromosome 18 of paternal origin. The karyotype was: 46,XY, -18, +psu dic(18)(qter-->cen-->p11.31::p11.31-->psucen-->qter). The origin of the abnormal chromosome was verified by FISH w
Autor:
Reinhard Ullmann, Zeynep Tümer, Niels Tommerup, Rikke S. Møller, Lizette M. Schneider, Merete Bugge, Christian Pilebaek Hansen
Publikováno v:
Epilepsia. 49:1091-1094
In a patient with severe myoclonic epilepsy of infancy (SMEI), we identified a de novo balanced translocation, t(2;5)(q24.3,q34). The breakpoint on chromosome 2q24.3 truncated the SCN1A gene and the 5q34 breakpoint was within a highly conserved genom
Autor:
Lone Schmidt, Karen Brøndum-Nielsen, Gert Bruun-Petersen, Søren Holstebroe, Kirsten Rasmussen, Peter Jensen, Iben Bache, Niels Tommerup, Erik Niebuhr, Merete Bugge, Mads F. Hjorth, Jørgen Hilden, Claes Lundsteen
Publikováno v:
Bache, I, Hjorth, M, Bugge, M, Holstebroe, S, Hilden, J, Schmidt, L, Brøndum-Nielsen, K, Bruun-Petersen, G, Jensen, P K A, Lundsteen, C, Niebuhr, E, Rasmussen, K & Tommerup, N 2006, ' 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, vol. 14, pp. 410-417 .
Balanced reciprocal translocations associated with genetic disorders have facilitated the identification of a variety of genes for early-onset monogenic disorders, but only rarely the genes associated with common and complex disorders. To assess the
Publikováno v:
American Journal of Medical Genetics Part A. :150-154
We report on a liveborn infant with trisomy 10 mosaicism combined with maternal uniparental heterodisomy for chromosome 10. The mosaicism 47,XY,+10/46,XY was found in five different tissues, including one blood sample, while cultured lymphocytes from
Autor:
Laurence Duprez, Merete Bugge, Carsten A. Brandt, Jens Michael Hertz, C. D. DeLozier-Blanchet, Mads Bak, Michael B. Petersen, Jytte Bieber Nielsen
Publikováno v:
American Journal of Medical Genetics Part A. :310-313
We have used 20 PCR-based DNA polymorphisms to determine whether trisomy 13 due to de novo rea(13q;13q) in six cases is caused by translocation (13q;13q) or isochromosome (13q;13q); to determine the parental origin of the rearrangements and the mecha
Autor:
Merete Bugge, Michael B. Petersen, Georgia Karadima, Peter Nicolaidis, Dimitris Vassilopoulos, G. von Beust, Karen Brøndum-Nielsen
Publikováno v:
Fetal Diagnosis and Therapy. 13:42-45
Objective: To determine the origin of the extra chromosome in trisomy 8 in spontaneous abortions. Methods: We analyzed 4 cases of nonmosaic trisomy 8 in 1st-trimester spontaneous abortions and their parents with DNA polymorphism analysis using micros
Autor:
Gerard Tromp, Jiapiao Zhuang, Darwin J. Prockop, Helena Kuivaniemi, Salvador Castells, Merete Bugge
Publikováno v:
Human Mutation. 7:89-99
More than 150 mutations in the genes for type I procollagen have been found in unrelated patients with osteogenesis imperfecta (OI), but mutations have been difficult to define in many patients with the mildest forms of the disease. Here, we have use
Publikováno v:
Journal of Medical Genetics. 32:19-24
Three unrelated, mentally retarded boys with typical blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) were found to have chromosomal aberrations. One of them had a del(3)(p25), another patient had a de novo translocation t(2; 3), which aft