Search Results - "Juncker, I"

Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study by Lund, M., Diaz, L. J., Gørtz, S., Feenstra, B., Duno, M., Juncker, I., Eiberg, H., Vissing, J., Wohlfahrt, J., Melbye, M.

“…Background and purpose Myotonic dystrophies (DM) are autosomal dominantly inherited neuromuscular disorders caused by unstable nucleotide repeat expansions. DM…”
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X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families by Lexner, MO, Bardow, A, Juncker, I, Jensen, LG, Almer, L, Kreiborg, S, Hertz, JM

“…This study aimed to investigate genotype and phenotype in males affected with X‐linked hypohidrotic ectodermal dysplasia (HED) and in female carriers, to…”
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MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome by Hertz, JM, Juncker, I, Marcussen, N

“…The X‐linked form of Alport syndrome (AS) is caused by mutations in the COL4A5 gene encoding the α5 chain of type IV collagen. Most COL4A5 mutations are…”
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Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease by Hertz, J. M., Østergaard, K., Juncker, I., Pedersen, S., Romstad, A., Møller, L. B., Güttler, F., Dupont, E.

“…Autosomal recessive Parkinson's disease (PD) with early‐onset may be caused by mutations in the parkin gene (PARK2). We have ascertained 87 Danish patients…”
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Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene by HERTZ, Jens Michael, PERSSON, Uif, JUNCKER, Inger, SEGELMARK, Marten

“…The X-linked form of Alport syndrome (AS) is caused by mutation in the COL4A5 gene located at Xq22.3 and encoding the alpha5-chain of type IV-collagen. More…”
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Detection of mutations in the COL4A5 gene by SSCP in X‐linked Alport syndrome by Hertz, Jens Michael, Juncker, Inger, Persson, Ulf, Matthijs, Gert, Schmidtke, Jörg, Petersen, Michael B., Kjeldsen, Margrethe, Gregersen, Niels

“…Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological…”
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Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen  3 chain by Persson, U., Hertz, J. M., Carlsson, M., Hellmark, T., Juncker, I., Wieslander, J., Segelmark, M.

“…Background. Goodpasture's disease (GP) is a rare but severe disease characterized by anti-glomerular basement membrane antibodies, rapidly progressive…”
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The molecular genetic background of hereditary craniosynostoses and chondrodysplasias by Hertz, J M, Juncker, I, Christensen, L, Østergaard, J R, Jensen, P K

“…Fibroblast growth factors are structurally related proteins associated with cell growth, differentiation, migration, wound healing, angiogenesis, and…”
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A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia by Hertz, Jens Michael, Hansen, Karen Nørgaard, Juncker, Inger, Kjeldsen, Margrethe, Gregersen, Niels

“…Hypohidrotic ectodermal dysplasia (EDA), or Christ‐Siemens‐Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis. The…”
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Segregation of HLA-DR, -DQ and -DP phenotypes and restriction fragment length polymorphic fragments in two recombinant families by Munck Petersen, C, Juncker Sørensen, I, Hyldig-Nielsen, J J, Lamm, L U

“…Members of two families were typed for HLA-DR, -DQ and -DP specificities by means of sera and local PLT bulk reagents. One B:C and one DR:DP cross-over were…”
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