Oculocutaneous albinism

av Brondum-Nielsen Karen, Ek Jakob, Grønskov Karen
Publicerad 2007-11-01

Oculocutaneous albinism

av Grønskov, Karen, Ek, Jakob, Brondum-Nielsen, Karen
Publicerad 2007

A nonsense mutation in FMR1 causing fragile X syndrome

av Grønskov, Karen, Brøndum-Nielsen, Karen, Dedic, Alma, Hjalgrim, Helle
Publicerad 2011

Normal RNAi response in human fragile × fibroblasts

av Madsen, Charlotte, Grønskov, Karen, Brøndum-Nielsen, Karen, Jensen, Thomas G
Publicerad 2009

Clinical utility gene card for: Oculocutaneous albinism

av Grønskov, Karen, Brøndum-Nielsen, Karen, Lorenz, Birgit, Preising, Markus N
I publikationen Eur J Hum Genet (2014)

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

av Almind, Gitte J, Brøndum-Nielsen, Karen, Bangsgaard, Regitze, Baekgaard, Peter, Grønskov, Karen
Publicerad 2009

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

av Almind, Gitte J, Grønskov, Karen, Milea, Dan, Larsen, Michael, Brøndum-Nielsen, Karen, Ek, Jakob
Publicerad 2011

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function

av Roos, Laura, Bertelsen, Birgitte, Harris, Pernille, Bygum, Anette, Jensen, Hanne, Grønskov, Karen, Tümer, Zeynep
I publikationen BMC Med Genet (2015)

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

av Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas
I publikationen Sci Rep (2019)

A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?

av Schatz, Patrik, Bregnhøj, Jesper, Arvidsson, Henrik, Sharon, Dror, Mizrahi-Meissonnier, Liliana, Sander, Birgit, Grønskov, Karen, Larsen, Michael
Publicerad 2012

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome

av Boonen, Susanne E, Hahnemann, Johanne M D, Mackay, Deborah, Tommerup, Niels, Brøndum-Nielsen, Karen, Tümer, Zeynep, Grønskov, Karen
Publicerad 2012

Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

av Almind, Gitte J, Ek, Jakob, Rosenberg, Thomas, Eiberg, Hans, Larsen, Michael, LuCamp, LuCamp, Brøndum-Nielsen, Karen, Grønskov, Karen
Publicerad 2012

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

av Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk
I publikationen Int J Mol Sci (2021)

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

av Hove, Marianne N., Kilic-Biyik, Kevser Z., Trotter, Alana, Grønskov, Karen, Sander, Birgit, Larsen, Michael, Carroll, Joseph, Bech-Hansen, Torben, Rosenberg, Thomas
I publikationen Invest Ophthalmol Vis Sci (2016)

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients

av Hjortshøj, Tina Duelund, Grønskov, Karen, Philp, Alisdair R, Nishimura, Darryl Y, Adeyemo, Adebowale, Rotimi, Charles N, Sheffield, Val C, Rosenberg, Thomas, Brøndum-Nielsen, Karen
Publicerad 2008

Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

av Grønskov, Karen, Dooley, Christopher M., Østergaard, Elsebet, Kelsh, Robert N., Hansen, Lars, Levesque, Mitchell P., Vilhelmsen, Kaj, Møllgård, Kjeld, Stemple, Derek L., Rosenberg, Thomas
Publicerad 2013

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

av Sitarz, Kamil S., Almind, Gitte J., Horvath, Rita, Czermin, Birgit, Grønskov, Karen, Pyle, Angela, Taylor, Robert W., Larsen, Michael, Chinnery, Patrick F., Yu-Wai-Man, Patrick
Publicerad 2012

Usher syndrome in Denmark: mutation spectrum and some clinical observations

av Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjærg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne‐Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth Birk
I publikationen Mol Genet Genomic Med (2016)

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

av Jespersgaard, Cathrine, Bertelsen, Mette, Arif, Farah, Gellert-Kristensen, Helene Gry, Fang, Mingyan, Jensen, Hanne, Rosenberg, Thomas, Tümer, Zeynep, Møller, Lisbeth Birk, Brøndum-Nielsen, Karen, Grønskov, Karen
I publikationen Genes (Basel) (2020)

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

av Bak, Mads, Boonen, Susanne E., Dahl, Christina, Hahnemann, Johanne M. D., Mackay, Deborah J. D. G., Tümer, Zeynep, Grønskov, Karen, Temple, I. Karen, Guldberg, Per, Tommerup, Niels
I publikationen BMC Med Genet (2016)