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1

Bardet-Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes

Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura, Ruth Riise, Val C. Sheffield, Thomas Rosenberg, Karen Brøndum-Nielsen

Journal:

Year:

2010

Language:

english

File:

PDF, 262 KB

english, 2010

2

Oculocutaneous albinism

Karen Grønskov, Jakob Ek, Karen Brondum-Nielsen

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 666 KB

english, 2007

3

Birth Prevalence and Mutation Spectrum in Danish Patients with Autosomal Recessive Albinism

Grønskov, Karen, Ek, Jakob, Sand, Annie, Scheller, Rudolf, Bygum, Anette, Brixen, Kim, Brondum-Nielsen, Karen, Rosenberg, Thomas

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 100 KB

english, 2009

4

Haplotype and AGG-interspersion analysis of FMR1 (CGG)n alleles in the Danish population: Implications for multiple mutational pathways towards fragile X alleles

Lars Allan Larsen, Judith S.M. Armstrong, Karen Grønskov, Helle Hjalgrim, James N. Macpherson, Karen Brøndum-Nielsen, Lis Hasholt, Bent Nørgaard-Pedersen, Jens Vuust

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 239 KB

english, 2000

5

Risk for cancer in patients with Bardet-Biedl syndrome and their relatives

Tina Duelund Hjortshøj, Karen Grønskov, Thomas Rosenberg, Karen Brøndum-Nielsen, Jørgen H. Olsen

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 75 KB

english, 2007

6

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 182 KB

english, 2008

7

Genomic deletions inOPA1in Danish patients with autosomal dominant optic atrophy

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

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 249 KB

english, 2011

8

11p Microdeletion includingWT1but notPAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

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

Journal:

Molecular Cytogenetics

Year:

2009

Language:

english

File:

PDF, 1.11 MB

english, 2009

9

High-throughput analysis of Fragile X (CGG)nalleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis

L. Allan Larsen, Karen Grønskov, Bent Nørgaard-Pedersen, Karen Brøndum-Nielsen, Lis Hasholt, Jens Vuust

Journal:

Year:

1997

Language:

english

File:

PDF, 80 KB

english, 1997

10

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

K. Grønskov, Anni Hallberg, Karen Brøndum-Nielsen

Journal:

Year:

1998

Language:

english

File:

PDF, 104 KB

english, 1998

11

Regarding the letter from Dr. Stephen T. Warren of the Emory University School of Medicine concerning our article “Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations”

Karen Grønskov, K. Brøndum-Nielsen

Journal:

Year:

1998

Language:

english

File:

PDF, 37 KB

english, 1998

12

A nonsense mutation in FMR1 causing fragile X syndrome

Grønskov, Karen, Brøndum-Nielsen, Karen, Dedic, Alma, Hjalgrim, Helle

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

13

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype

Grønskov, Karen, Rosenberg, Thomas, Sand, Annie, Brøndum-Nielsen, Karen

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 260 KB

english, 1999

14

Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia

Larsen, Lars Allan, Armstrong, Judith SM, Grønskov, Karen, Hjalgrim, Helle, Brøndum-Nielsen, Karen, Hasholt, Lis, Nørgaard-Pedersen, Bent, Vuust, Jens

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 322 KB

english, 1999

15

Screening of the ARX gene in 682 retarded males

Grønskov, Karen, Hjalgrim, Helle, Nielsen, Inge-Merete, Brøndum-Nielsen, Karen

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 97 KB

english, 2004

16

Normal RNAi response in human fragile × fibroblasts

Charlotte Madsen, Karen Grønskov, Karen Brøndum-Nielsen, Thomas G Jensen

Journal:

BMC Research Notes

Year:

2009

Language:

english

File:

PDF, 340 KB

english, 2009

17

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

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

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 161 KB

english, 2011

18

Role of the time factor in signaling specificity: Application to mitogenic and metabolic signaling by the insulin and insulin-like growth factor-I receptor tyrosine kinases

Pierre De Meyts, Claus T. Christoffersen, Birgitte Ursø, Brenda Wallach, Karen Grønskov, Fumiatsu Yakushiji, Ronald M. Shymko

Journal:

Year:

1995

Language:

english

File:

PDF, 1.05 MB

english, 1995

19

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

Zeynep Tümer, Birgitte Bertelsen, Ole Gredal, Melinda Magyari, Karen Cecilie Nielsen, LuCamp, Karen Grønskov, Karen Brøndum-Nielsen

Journal:

Neurobiology of Aging

Year:

2012

Language:

english

File:

PDF, 547 KB

english, 2012

20

Deletion of All CGG Repeats Plus Flanking Sequences in FMR1 Does Not Abolish Gene Expression

Karen Grønskov, Helle Hjalgrim, Mia O. Bjerager, Karen Brøndum-Nielsen

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 272 KB

english, 1997

21

Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201–203

Ruth Riise, Barbara D’haene, Elfride De Baere, Karen Grønskov, Karen Brøndum-Nielsen

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

22

Dominant optic atrophy in Denmark – report of 15 novel mutations inOPA1, using a strategy with a detection rate of 90%

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

Journal:

BMC Medical Genetics

Year:

2012

Language:

english

File:

PDF, 229 KB

english, 2012

23

GJB2 and GJB6 Mutations in 165 Danish Patients Showing Non-Syndromic Hearing Impairment

Grønskov, Karen, Larsen, Lars Allan, Rendtorff, Nanna Dahl, Parving, Agnete, Nørgaard-Pedersen, Bent, Brøndum-Nielsen, Karen

Journal:

Genetic Testing

Year:

2004

Language:

english

File:

PDF, 56 KB

english, 2004

24

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

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

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1013 KB

english, 2013

25

Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis

Mertz, Line Granild Bie, Christensen, Rikke, Vogel, Ida, Hertz, Jens Michael, Nielsen, Karen Brøndum, Grønskov, Karen, Østergaard, John R.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 288 KB

english, 2013

26

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

Grønskov, Karen, Diness, Birgitte, Stahlhut, Michelle, Zilmer, Monica, Tümer, Zeynep, Bisgaard, Anne-Marie, Brøndum-Nielsen, Karen

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 887 KB

english, 2014

27

Clinical utility gene card for: Oculocutaneous albinism

Grønskov, Karen, Brøndum-Nielsen, Karen, Lorenz, Birgit, Preising, Markus N

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 171 KB

english, 2014

28

Increasing the complexity: new genes and new types of albinism

Montoliu, Lluís, Grønskov, Karen, Wei, Ai-Hua, Martínez-García, Mónica, Fernández, Almudena, Arveiler, Benoît, Morice-Picard, Fanny, Riazuddin, Saima, Suzuki, Tamio, Ahmed, Zubair M., Rosenberg, Thoma

Journal:

Pigment Cell & Melanoma Research

Year:

2014

Language:

english

File:

PDF, 7.10 MB

english, 2014

29

Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy subjects

Rönnbäck, Cecilia, Grønskov, Karen, Larsen, Michael

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2014

Language:

english

File:

PDF, 248 KB

english, 2014

30

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

Roos, Laura, Bertelsen, Birgitte, Harris, Pernille, Bygum, Anette, Jensen, Hanne, Grønskov, Karen, Tümer, Zeynep

Journal:

BMC Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

31

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Eggermann, Thomas, Brioude, Frédéric, Russo, Silvia, Lombardi, Maria P, Bliek, Jet, Maher, Eamonn R, Larizza, Lidia, Prawitt, Dirk, Netchine, Irène, Gonzales, Marie, Grønskov, Karen, Tümer, Zeynep, Mo

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.48 MB

english, 2015

32

Is there a relationship between U-shaped audiograms and mutations in Connexin 26?

Jacobsen, Susan D., Gronskov, Karen, Brondum-Nielsen, Karen, Parving, Agnete

Journal:

Scandinavian Audiology

Year:

2001

Language:

english

File:

PDF, 277 KB

english, 2001

33

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

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

Journal:

BMC Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

34

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Eggermann, Thomas, Perez de Nanclares, Guiomar, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène

Journal:

Clinical Epigenetics

Year:

2015

Language:

english

File:

PDF, 2.75 MB

english, 2015

35

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Eggermann, Thomas, de Nanclares, Guiomar Perez, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène

Journal:

Clinical Epigenetics

Year:

2016

Language:

english

File:

PDF, 959 KB

english, 2016

36

Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

Gede, Lene Bjerring, Hahnemann, Johanne M. D., Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 236 KB

english, 2016

37

Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy

Rönnbäck, Cecilia, Nissen, Claus, Almind, Gitte J., Grønskov, Karen, Milea, Dan, Larsen, Michael

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

38

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

Roos, Laura, Jensen, Hanne, Grønskov, Karen, Holst, René, Tümer, Zeynep

Journal:

Ophthalmic Epidemiology

Year:

2016

Language:

english

File:

PDF, 943 KB

english, 2016

39

Usher syndrome in Denmark: mutation spectrum and some clinical observations

Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjaerg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne-Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Li

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 303 KB

english, 2016

40

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark

Grønskov, Karen, Redó-Riveiro, Alba, Sandfeld, Lisbeth, Zibrandtsen, Nathalie, Harris, Pernille, Bach-Holm, Daniella, Tümer, Zeynep

Journal:

Journal of Glaucoma

Year:

2016

Language:

english

File:

PDF, 130 KB

english, 2016

41

Structural and sequence variants in patients with Silver-Russell syndrome or similar features - Curation of a disease database

Tümer, Zeynep, López-Hernández, Julia Angélica, Netchine, Irène, Elbracht, Miriam, Grønskov, Karen, Gede, Lene Bjerring, Sachwitz, Jana, den Dunen, Johan T., Eggermann, Thomas

Journal:

Year:

2017

Language:

english

File:

PDF, 998 KB

english, 2017

42

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

Hey, Caroline Amalie Brunbjerg, Saltõkowa, Katarina Beata, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

Journal:

Stem Cell Research

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

43

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

Hey, Caroline Amalie Brunbjerg, Saltõkowa, Katarina Beata, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

Journal:

Stem Cell Research

Year:

2018

Language:

english

File:

PDF, 5.11 MB

english, 2018

44

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

Hove, Marianne N., Kilic-Biyik, Kevser Z., Trotter, Alana, Grønskov, Karen, Sander, Birgit, Larsen, Michael, Carroll, Joseph, Bech-Hansen, Torben, Rosenberg, Thomas

Journal:

Investigative Opthalmology & Visual Science

Year:

2016

Language:

english

File:

PDF, 1.12 MB

english, 2016

45

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

Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas

Journal:

Scientific Reports

Year:

2019

File:

PDF, 1.04 MB

2019

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