关注
karen brondum-nielsen
karen brondum-nielsen
Professor i klinisk genetik
在 kennedy.dk 的电子邮件经过验证
标题
引用次数
引用次数
年份
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
AK Ryan, JA Goodship, DI Wilson, N Philip, A Levy, H Seidel, ...
Journal of medical genetics 34 (10), 798-804, 1997
13281997
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
SL Sherman, PA Jacobs, NE Morton, U Froster-Iskenius, ...
Human genetics 69, 289-299, 1985
6771985
High carrier frequency of the 35delG deafness mutation in European populations
P Gasparini, R Rabionet, G Barbujani, S Melchionda, M Petersen, ...
European Journal of Human Genetics 8 (1), 19-23, 2000
5452000
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
SL Nolin, WT Brown, A Glicksman, GE Houck Jr, AD Gargano, A Sullivan, ...
The American Journal of Human Genetics 72 (2), 454-464, 2003
4722003
A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p
International Molecular Genetic Study of Autism Consortium
The American Journal of Human Genetics 69 (3), 570-581, 2001
4122001
Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries
JH Olsen, JM Hahnemann, AL Børresen-Dale, K Brøndum-Nielsen, ...
Journal of the National Cancer Institute 93 (2), 121-127, 2001
2772001
Cornelia de Lange syndrome
MI Boyle, C Jespersgaard, K Brøndum‐Nielsen, AM Bisgaard, Z Tümer
Clinical genetics 88 (1), 1-12, 2015
2132015
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
J Vallon-Christersson, C Cayanan, K Haraldsson, N Loman, ...
Human molecular genetics 10 (4), 353-360, 2001
2032001
Developmental arrest of germ cells in the pathogenesis of germ cell neoplasia
EWARDE MEYTS, N JØRGENSEN, K BRØNDUM‐NIELSEN, J MÜLLER, ...
Apmis 106 (1‐6), 198-206, 1998
2021998
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden.
O Johannsson, EA Ostermeyer, S Håkansson, LS Friedman, U Johansson, ...
American journal of human genetics 58 (3), 441, 1996
1831996
Population-based risk estimates of Wilms tumor in sporadic aniridia: a comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia
K Grønskov, JH Olsen, A Sand, W Pedersen, N Carlsen, A Jylling, ...
Human genetics 109, 11-18, 2001
1762001
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish country
MB Petersen, K Brondum-Nielsen, LK Hansen, K Wulff
American journal of medical genetics 60 (3), 1995
1681995
Non-disjunction of chromosome 18
M Bugge, A Collins, MB Petersen, J Fisher, C Brandt, J Michael Hertz, ...
Human molecular genetics 7 (4), 661-669, 1998
1581998
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man
M Bugge, G Bruun-Petersen, K Brøndum-Nielsen, U Friedrich, J Hansen, ...
Journal of medical genetics 37 (11), 858-865, 2000
1562000
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
WP Robinson, BD Kuchinka, F Bernasconi, MB Petersen, A Schulze, ...
Human molecular genetics 7 (6), 1011-1019, 1998
1521998
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23. 1
K Devriendt, G Matthijs, R Van Dael, M Gewillig, B Eyskens, H Hjalgrim, ...
The American Journal of Human Genetics 64 (4), 1119-1126, 1999
1471999
Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization
E Blennow, KB Nielsen, H Telenius, NP Carter, U Kristoffersson, ...
American journal of medical genetics 55 (1), 85-94, 1995
1391995
Clonal Ph-negative hematopoiesis in CML after therapy with imatinib mesylate is frequently characterized by trisomy 8
MK Andersen, J Pedersen-Bjergaard, L Kjeldsen, IH Dufva, ...
Leukemia 16 (7), 1390-1393, 2002
1372002
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype
K Grønskov, T Rosenberg, A Sand, K Brøndum-Nielsen
European Journal of Human Genetics 7 (3), 274-286, 1999
1201999
The stress of caregivers.
DA Chiriboga, PG Weiler, K Nielsen
Journal of Applied Social Sciences, 1988
1201988
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