Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation

Autor: Anders D. Børglum, Sven Poulsen, Hans Gjørup, Jens Michael Hertz, Inger Juncker, L. G. Jensen, Mette Nyegaard, Dorte Haubek

Publikováno v: International Journal of Paediatric Dentistry. 21:407-412

BACKGROUND. Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI) is a disease with severe dental manifestations. OBJECTIVES. The aims were by means of a genome-wide linkage scan to search for the gene underlying the ADHCAI phenotype in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a05853783181af12c639dc500fb7552
https://doi.org/10.1111/j.1365-263x.2011.01142.x

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease

Autor: A. Romstad, L. B. Møller, Erik Dupont, Inger Juncker, Karen Østergaard, S. Pedersen, F. Güttler, Jens Michael Hertz

Publikováno v: Hertz, J M, Ostergaard, K, Juncker, I, Pedersen, S, Romstad, A, Güttler, F, Møller, L B & Dupont, E 2006, ' Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease ', European Journal of Neurology, vol. 13, no. 4, pp. 385-90 . https://doi.org/10.1111/j.1468-1331.2006.01249.x

Udgivelsesdato: 2006-Apr 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 with an early-onset form of PD (age at onset < or =40 years, or < or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e09e50579b0c623008ea05a62fdcbfc4
https://doi.org/10.1111/j.1468-1331.2006.01249.x

Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study

Autor: Hans Eiberg, Jan Wohlfahrt, Marie Lund, Sanne Gørtz, Bjarke Feenstra, John Vissing, Inger Juncker, Lars Jorge Diaz, Mads Melbye, Morten Duno

Publikováno v: European journal of neurology. 21(9)

Background and purpose Myotonic dystrophies (DM) are autosomal dominantly inherited neuromuscular disorders caused by unstable nucleotide repeat expansions. DM and cancer have been associated, but the pathogenesis behind the association remains uncle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::845ed68cc40ed85bff8907b92eb09273
https://pubmed.ncbi.nlm.nih.gov/24838088

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome

Autor: Niels Marcussen, Inger Juncker, Jens Michael Hertz

Publikováno v: Hertz, J M, juncker, I & Marcussen, N 2008, ' MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome ', Clinical Genetics, vol. 74, no. 6, pp. 522-30 . https://doi.org/10.1111/j.1399-0004.2008.01051.x
Hertz, JM, Juncker, I & Marcussen, N 2008, ' MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. ', Clinical Genetics, vol. 74, no. 6, pp. 522-530 . https://doi.org/10.1111/j.1399-0004.2008.01051.x

Udgivelsesdato: 2008-Jun-26 The X-linked form of Alport syndrome (AS) is caused by mutations in the COL4A5 gene encoding the alpha5 chain of type IV collagen. Most COL4A5 mutations are individual, and mutation analysis is complicated by the size of t

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https://pure.au.dk/portal/da/publications/mlpa-and-cdna-analysis-improves-col4a5-mutation-detection-in-xlinked-alport-syndrome(662a10e0-04b8-11de-8317-000ea68e967b).html

Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain

Autor: Thomas Hellmark, Malin Carlsson, Jens Michael Hertz, Ulf Persson, Inger Juncker, Jörgen Wieslander, Mårten Segelmark

Publikováno v: Persson, U, Hertz, J M, Carlsson, M, Hellmark, T, juncker, I, Wieslander, J & Segelmark, M 2004, ' Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain ', Nephrology, Dialysis, Transplantation, vol. 19, no. 8, pp. 2030-5 . https://doi.org/10.1093/ndt/gfh355

Udgivelsesdato: 2004-Aug BACKGROUND: Goodpasture's disease (GP) is a rare but severe disease characterized by anti-glomerular basement membrane antibodies, rapidly progressive glomerulonephritis and lung haemorrhage. The autoantibodies are restricted

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https://pubmed.ncbi.nlm.nih.gov/15199166