Recent Advances in Imprinting Disorders
Soellner, L., Begemann, M., Mackay, D.J.G., Grønskov, K., Tümer, Z., Maher, E.R., Temple, I.K., Monk, D., Riccio, A., Linglart, A., Netchine, I., Eggermann, T.
Published in Clinical genetics (01.01.2017)
Published in Clinical genetics (01.01.2017)
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Journal Article
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia
Roos, L., Fang, M., Dali, C., Jensen, H., Christoffersen, N., Wu, B., Zhang, J., Xu, R., Harris, P., Xu, X., Grønskov, K., Tümer, Z.
Published in Clinical genetics (01.09.2014)
Published in Clinical genetics (01.09.2014)
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Journal Article
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia
Grønskov, K, Olsen, J H, Sand, A, Pedersen, W, Carlsen, N, Bak Jylling, A M, Lyngbye, T, Brøndum-Nielsen, K, Rosenberg, T
Published in Human genetics (01.07.2001)
Published in Human genetics (01.07.2001)
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Journal Article
Role of the time factor in signaling specificity: Application to mitogenic and metabolic signaling by the insulin and insulin-like growth factor-I receptor tyrosine kinases
De Meyts, Pierre, Christoffersen, Claus T., Ursø, Birgitte, Wallach, Brenda, Grønskov, Karen, Yakushiji, Fumiatsu, Shymko, Ronald M.
Published in Metabolism, clinical and experimental (01.10.1995)
Published in Metabolism, clinical and experimental (01.10.1995)
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Journal Article
Conference Proceeding
Screening of the ARX gene in 682 retarded males
GRØNSKOV, Karen, HJALGRIM, Helle, NIELSEN, Inge-Merete, BRØNDUM-NIELSEN, Karen
Published in European journal of human genetics : EJHG (01.09.2004)
Published in European journal of human genetics : EJHG (01.09.2004)
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Journal Article
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs
Østergaard, E, Montserrat-Sentis, B, Grønskov, K, Brøndum-Nielsen, K
Published in Clinical genetics (01.10.2002)
Published in Clinical genetics (01.10.2002)
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Journal Article
Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness
Antoniadi, T., Grønskov, K., Sand, A., Pampanos, A., Brøndum-Nielsen, K., Petersen, M.B.
Published in Human mutation (01.07.2000)
Published in Human mutation (01.07.2000)
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Journal Article
Expression of insulin receptor spliced variants and their functional correlates in muscle from patients with non-insulin-dependent diabetes mellitus
Hansen, T, Bjørbaek, C, Vestergaard, H, Grønskov, K, Bak, J F, Pedersen, O
Published in The journal of clinical endocrinology and metabolism (01.12.1993)
Published in The journal of clinical endocrinology and metabolism (01.12.1993)
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Journal Article
Mutation of Arginine 86 to Proline in the Insulin Receptor Alpha Subunit Causes Lack of Transport of the Receptor to the Plasma Membrane, Loss of Binding Affinity and a Constitutively Activated Tyrosine Kinase in Transfected Cells
Gronskov, K., Vissing, H., Shymko, R.M., Tornqvist, H., Demeyts, P.
Published in Biochemical and biophysical research communications (30.04.1993)
Published in Biochemical and biophysical research communications (30.04.1993)
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Journal Article
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
Christesen, Henrik Thybo, Christensen, Lene Gaarsmand, Löfgren, Åsa Mattsson, Brøndum-Nielsen, Karen, Svensson, Johan, Brusgaard, Klaus, Samuelsson, Sofie, Elfving, Maria, Jonson, Tord, Grønskov, Karen, Rasmussen, Lars, Backman, Torbjörn, Hansen, Lars Kjaersgaard, Larsen, Annette Rønholt, Petersen, Henrik, Detlefsen, Sönke
Published in European journal of medical genetics (01.01.2020)
Published in European journal of medical genetics (01.01.2020)
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Journal Article
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation
Grønskov, Karen, Poole, Rebecca L, Hahnemann, Johanne M D, Thomson, Jennifer, Tümer, Zeynep, Brøndum-Nielsen, Karen, Murphy, Rinki, Ravn, Kirstine, Melchior, Linea, Dedic, Alma, Dolmer, Birgitte, Temple, I Karen, Boonen, Susanne E, Mackay, Deborah J G
Published in Journal of medical genetics (01.05.2011)
Published in Journal of medical genetics (01.05.2011)
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Journal Article
Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia
Larsen, L A, Armstrong, J S, Grønskov, K, Hjalgrim, H, Brøndum-Nielsen, K, Hasholt, L, Nørgaard-Pedersen, B, Vuust, J
Published in European journal of human genetics : EJHG (01.10.1999)
Published in European journal of human genetics : EJHG (01.10.1999)
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Journal Article
High-throughput analysis of Fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis
LARSEN, L. A, GRØNSKOV, K, NØRGAARD-PEDERSEN, B, BRØNDUM-NIELSEN, K, HASHOLT, L, VUUST, J
Published in Human genetics (01.10.1997)
Published in Human genetics (01.10.1997)
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