Oculocutaneous albinism

di Brondum-Nielsen Karen, Ek Jakob, Grønskov Karen
Pubblicazione 2007-11-01

Oculocutaneous albinism

di Grønskov, Karen, Ek, Jakob, Brondum-Nielsen, Karen
Pubblicazione 2007

A nonsense mutation in FMR1 causing fragile X syndrome

di Grønskov, Karen, Brøndum-Nielsen, Karen, Dedic, Alma, Hjalgrim, Helle
Pubblicazione 2011

Normal RNAi response in human fragile × fibroblasts

di Madsen, Charlotte, Grønskov, Karen, Brøndum-Nielsen, Karen, Jensen, Thomas G
Pubblicazione 2009

Clinical utility gene card for: Oculocutaneous albinism

di Grønskov, Karen, Brøndum-Nielsen, Karen, Lorenz, Birgit, Preising, Markus N
Pubblicato in Eur J Hum Genet (2014)

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

di Almind, Gitte J, Brøndum-Nielsen, Karen, Bangsgaard, Regitze, Baekgaard, Peter, Grønskov, Karen
Pubblicazione 2009

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

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

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

di Roos, Laura, Bertelsen, Birgitte, Harris, Pernille, Bygum, Anette, Jensen, Hanne, Grønskov, Karen, Tümer, Zeynep
Pubblicato in BMC Med Genet (2015)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

di 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
Pubblicazione 2012

Usher syndrome in Denmark: mutation spectrum and some clinical observations

di 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
Pubblicato in Mol Genet Genomic Med (2016)

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

di 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
Pubblicato in Genes (Basel) (2020)

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

di 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
Pubblicato in BMC Med Genet (2016)