Gronskov, K. : rechercher sur Z-Library

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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:

Année:

2010

Langue:

english

Fichier:

PDF, 262 KB

english, 2010

2

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

Gronskov, K., Poole, R. L., Hahnemann, J. M. D., Thomson, J., Tumer, Z., Brondum-Nielsen, K., Murphy, R., Ravn, K., Melchior, L., Dedic, A., Dolmer, B., Temple, I. K., Boonen, S. E., Mackay, D. J. G.

Journal:

Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 546 KB

english, 2011

3

Oculocutaneous albinism

Karen Grønskov, Jakob Ek, Karen Brondum-Nielsen

Journal:

Orphanet Journal of Rare Diseases

Année:

2007

Langue:

english

Fichier:

PDF, 666 KB

english, 2007

4

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

Année:

2009

Langue:

english

Fichier:

PDF, 100 KB

english, 2009

5

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

Année:

2000

Langue:

english

Fichier:

PDF, 239 KB

english, 2000

6

Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness

T. Antoniadi, K. Grønskov, A. Sand, A. Pampanos, K. Brøndum-Nielsen, M.B. Petersen

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 191 KB

english, 2000

7

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

Année:

2007

Langue:

english

Fichier:

PDF, 75 KB

english, 2007

8

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

Année:

2008

Langue:

english

Fichier:

PDF, 182 KB

english, 2008

9

The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs

E Østergaard, B Montserrat-Sentis, K Grønskov, K Brøndum-Nielsen

Journal:

Clinical Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 48 KB

english, 2002

10

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

Année:

2011

Langue:

english

Fichier:

PDF, 249 KB

english, 2011

11

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

Année:

2009

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2009

12

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:

Année:

1997

Langue:

english

Fichier:

PDF, 80 KB

english, 1997

13

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:

Année:

1998

Langue:

english

Fichier:

PDF, 104 KB

english, 1998

14

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:

Année:

1998

Langue:

english

Fichier:

PDF, 37 KB

english, 1998

15

A nonsense mutation in FMR1 causing fragile X syndrome

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

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 215 KB

english, 2011

16

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

Année:

1999

Langue:

english

Fichier:

PDF, 260 KB

english, 1999

17

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

Année:

1999

Langue:

english

Fichier:

PDF, 322 KB

english, 1999

18

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

Année:

2004

Langue:

english

Fichier:

PDF, 97 KB

english, 2004

19

Normal RNAi response in human fragile × fibroblasts

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

Journal:

BMC Research Notes

Année:

2009

Langue:

english

Fichier:

PDF, 340 KB

english, 2009

20

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

Année:

2011

Langue:

english

Fichier:

PDF, 161 KB

english, 2011

21

Mutation of Arginine 86 to Proline in the Insulin Receptor Alpha Subunit Causes Lack of Transport of the Receptor to the Plasma Membrane, Loss of Binding Affinity and a Constitutively Activated Tyrosine Kinase in Transfected Cells

K. Gronskov, H. Vissing, R.M. Shymko, H. Tornqvist, P. Demeyts

Journal:

Biochemical and Biophysical Research Communications

Année:

1993

Fichier:

PDF, 451 KB

1993

22

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:

Année:

1995

Langue:

english

Fichier:

PDF, 1.05 MB

english, 1995

23

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

Année:

2012

Langue:

english

Fichier:

PDF, 547 KB

english, 2012

24

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

Année:

1997

Langue:

english

Fichier:

PDF, 272 KB

english, 1997

25

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)

Année:

2009

Langue:

english

Fichier:

PDF, 115 KB

english, 2009

26

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

Année:

2012

Langue:

english

Fichier:

PDF, 229 KB

english, 2012

27

Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

Boonen, S. E., Mackay, D. J. G., Hahnemann, J. M. D., Docherty, L., Gronskov, K., Lehmann, A., Larsen, L. G., Haemers, A. P., Kockaerts, Y., Dooms, L., Vu, D. C., Ngoc, C. T. B., Nguyen, P. B., Kordon

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 888 KB

english, 2013

28

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

Année:

2004

Langue:

english

Fichier:

PDF, 56 KB

english, 2004

29

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia

Roos, L., Fang, M., Dali, C., Jensen, H., Christoffersen, N., Wu, B., Zhang, J., Xu, R., Harris, P., Xu, X., Grønskov, K., Tümer, Z.

Journal:

Clinical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 657 KB

english, 2014

30

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

Année:

2013

Langue:

english

Fichier:

PDF, 1013 KB

english, 2013

31

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

Année:

2013

Langue:

english

Fichier:

PDF, 288 KB

english, 2013

32

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

Année:

2014

Langue:

english

Fichier:

PDF, 887 KB

english, 2014

33

Clinical utility gene card for: Oculocutaneous albinism

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

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 171 KB

english, 2014

34

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

Année:

2014

Langue:

english

Fichier:

PDF, 7.10 MB

english, 2014

35

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)

Année:

2014

Langue:

english

Fichier:

PDF, 248 KB

english, 2014

36

Expression of insulin receptor spliced variants and their functional correlates in muscle from patients with non-insulin-dependent diabetes mellitus.

Hansen, T, Bjørbaek, C, Vestergaard, H, Grønskov, K, Bak, J F, Pedersen, O

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

1993

Langue:

english

Fichier:

PDF, 647 KB

english, 1993

37

A Homogeneous Assay for Analysis of FMR1 Promoter Methylation in Patients with Fragile X Syndrome

Dahl, C., Gronskov, K., Larsen, L. A., Guldberg, P., Brondum-Nielsen, K.

Journal:

Clinical Chemistry

Année:

2007

Langue:

english

Fichier:

PDF, 308 KB

english, 2007

38

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

Eggermann, Thomas, Netchine, Irène, Temple, I, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R

Journal:

Clinical Epigenetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2015

39

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

Hjortshoj, T D., Gronskov, K, Brondum-Nielsen, K, Rosenberg, T

Journal:

British Journal of Ophthalmology

Année:

2009

Langue:

english

Fichier:

PDF, 822 KB

english, 2009

40

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

Sitarz, K. S., Almind, G. J., Horvath, R., Czermin, B., Gronskov, K., Pyle, A., Taylor, R. W., Larsen, M., Chinnery, P. F., Yu-Wai-Man, P.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 263 KB

english, 2012

41

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2015

42

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.48 MB

english, 2015

43

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

Année:

2001

Langue:

english

Fichier:

PDF, 277 KB

english, 2001

44

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

Année:

2016

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2016

45

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

Année:

2015

Langue:

english

Fichier:

PDF, 2.75 MB

english, 2015

46

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

Année:

2016

Langue:

english

Fichier:

PDF, 959 KB

english, 2016

47

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

Année:

2016

Langue:

english

Fichier:

PDF, 236 KB

english, 2016

48

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)

Année:

2015

Langue:

english

Fichier:

PDF, 214 KB

english, 2015

49

Recent Advances in Imprinting Disorders

Soellner, L., Begemann, M., Mackay, D.J.G., Grønskov, K., Tümer, Z., Maher, E.R., Temple, I.K., Monk, D., Riccio, A., Linglart, A., Netchine, I., Eggermann, T.

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2016

50

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

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

Journal:

Ophthalmic Epidemiology

Année:

2016

Langue:

english

Fichier:

PDF, 943 KB

english, 2016