Oculocutaneous albinism

ανά Brondum-Nielsen Karen, Ek Jakob, Grønskov Karen
Έκδοση 2007-11-01

Oculocutaneous albinism

ανά Grønskov, Karen, Ek, Jakob, Brondum-Nielsen, Karen
Έκδοση 2007

A nonsense mutation in FMR1 causing fragile X syndrome

ανά Grønskov, Karen, Brøndum-Nielsen, Karen, Dedic, Alma, Hjalgrim, Helle
Έκδοση 2011

Normal RNAi response in human fragile × fibroblasts

ανά Madsen, Charlotte, Grønskov, Karen, Brøndum-Nielsen, Karen, Jensen, Thomas G
Έκδοση 2009

Clinical utility gene card for: Oculocutaneous albinism

ανά Grønskov, Karen, Brøndum-Nielsen, Karen, Lorenz, Birgit, Preising, Markus N
Τόπος έκδοσης Eur J Hum Genet (2014)

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

ανά Almind, Gitte J, Brøndum-Nielsen, Karen, Bangsgaard, Regitze, Baekgaard, Peter, Grønskov, Karen
Έκδοση 2009

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

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

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

ανά Roos, Laura, Bertelsen, Birgitte, Harris, Pernille, Bygum, Anette, Jensen, Hanne, Grønskov, Karen, Tümer, Zeynep
Τόπος έκδοσης BMC Med Genet (2015)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ανά 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
Έκδοση 2012

Usher syndrome in Denmark: mutation spectrum and some clinical observations

ανά 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
Τόπος έκδοσης Mol Genet Genomic Med (2016)

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

ανά 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
Τόπος έκδοσης Genes (Basel) (2020)

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

ανά 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
Τόπος έκδοσης BMC Med Genet (2016)