Oculocutaneous albinism

Por Brondum-Nielsen Karen, Ek Jakob, Grønskov Karen
Publicado em 2007-11-01

Oculocutaneous albinism

Por Grønskov, Karen, Ek, Jakob, Brondum-Nielsen, Karen
Publicado em 2007

A nonsense mutation in FMR1 causing fragile X syndrome

Por Grønskov, Karen, Brøndum-Nielsen, Karen, Dedic, Alma, Hjalgrim, Helle
Publicado em 2011

Normal RNAi response in human fragile × fibroblasts

Por Madsen, Charlotte, Grønskov, Karen, Brøndum-Nielsen, Karen, Jensen, Thomas G
Publicado em 2009

Clinical utility gene card for: Oculocutaneous albinism

Por Grønskov, Karen, Brøndum-Nielsen, Karen, Lorenz, Birgit, Preising, Markus N
Publicado no Eur J Hum Genet (2014)

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

Por Almind, Gitte J, Brøndum-Nielsen, Karen, Bangsgaard, Regitze, Baekgaard, Peter, Grønskov, Karen
Publicado em 2009

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

Por Almind, Gitte J, Grønskov, Karen, Milea, Dan, Larsen, Michael, Brøndum-Nielsen, Karen, Ek, Jakob
Publicado em 2011

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

Por Roos, Laura, Bertelsen, Birgitte, Harris, Pernille, Bygum, Anette, Jensen, Hanne, Grønskov, Karen, Tümer, Zeynep
Publicado no BMC Med Genet (2015)

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

Por Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas
Publicado no Sci Rep (2019)

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

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

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

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

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

Por Almind, Gitte J, Ek, Jakob, Rosenberg, Thomas, Eiberg, Hans, Larsen, Michael, LuCamp, LuCamp, Brøndum-Nielsen, Karen, Grønskov, Karen
Publicado em 2012

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

Por Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk
Publicado no Int J Mol Sci (2021)

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

Por Hove, Marianne N., Kilic-Biyik, Kevser Z., Trotter, Alana, Grønskov, Karen, Sander, Birgit, Larsen, Michael, Carroll, Joseph, Bech-Hansen, Torben, Rosenberg, Thomas
Publicado no Invest Ophthalmol Vis Sci (2016)

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

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

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

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

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

Por 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
Publicado em 2012

Usher syndrome in Denmark: mutation spectrum and some clinical observations

Por 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
Publicado no Mol Genet Genomic Med (2016)

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

Por 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
Publicado no Genes (Basel) (2020)

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

Por 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
Publicado no BMC Med Genet (2016)