K. Grønskov

发表

Increasing the complexity: new genes and new types of albinism

Wei Li, T. Rosenberg, S. Riazuddin, 2014, Pigment cell & melanoma research.

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

M. Larsen, D. Milea, K. Grønskov, 2015, Acta ophthalmologica.

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

Z. Tümer, K. Brøndum‐Nielsen, D. Mackay, 2011, Journal of Medical Genetics.

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

T. Rosenberg, K. Brøndum‐Nielsen, K. Grønskov, 2008, British Journal of Ophthalmology.

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

M. Larsen, T. Rosenberg, H. Eiberg, 2012, BMC Medical Genetics.

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

Z. Tümer, K. Brøndum‐Nielsen, K. Grønskov, 2012, Neurobiology of Aging.

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

Z. Tümer, T. Eggermann, I. Temple, 2016, Clinical Epigenetics.

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

Z. Tümer, T. Eggermann, I. Temple, 2015, Clinical Epigenetics.

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

Z. Tümer, N. Tommerup, P. Guldberg, 2016, BMC Medical Genetics.

Prevalence and causes of infantile nystagmus in a large population‐based Danish cohort

A. Bayat, K. Grønskov, L. Roos, 2020, Acta ophthalmologica.

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

T. Hansen, H. Vestergaard, O. Pedersen, 1993, The Journal of clinical endocrinology and metabolism.

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

Z. Tümer, K. Brøndum‐Nielsen, K. Grønskov, 2016, Prenatal diagnosis.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

M. Tekin, K. Arnos, A. Pandya, 2009, European Journal of Human Genetics.

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

V. Sheffield, C. Rotimi, A. Adeyemo, 2008, American journal of medical genetics. Part A.

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

J. Olsen, T. Rosenberg, K. Brøndum‐Nielsen, 2007, American journal of medical genetics. Part A.

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

Z. Tümer, K. Brøndum‐Nielsen, L. Møller, 2018, Stem cell research.

Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition

N. Hayward, Å. Borg, K. Klein, 2015, PloS one.

Population-based risk estimates of Wilms tumor in sporadic aniridia

J. Olsen, T. Rosenberg, K. Brøndum‐Nielsen, 2001, Human Genetics.

The insulin-like growth factor-I receptor. Structure, ligand-binding mechanism and signal transduction.

B. Ursø, C. Christoffersen, P. De Meyts, 1994, Hormone research.

Prevalence of Macular Microcystoid Lacunae in Autosomal Dominant Optic Atrophy Assessed With Adaptive Optics

M. Larsen, T. Bek, K. Grønskov, 2022, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts

Z. Tümer, T. Eggermann, M. Finken, 2019, Clinical genetics.

Diagnosis and management of Silver-Russell syndrome

Dias, M. Maghnie, Z. Tümer, 2018 .

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

R. Weksberg, Z. Tümer, P. Lapunzina, 2015, European Journal of Human Genetics.

Genetic disease is a common cause of bilateral childhood cataract in Denmark

K. Grønskov, L. Roos, L. Kessel, 2021, Ophthalmic genetics.

Usher syndrome in Denmark

T. Rosenberg, L. Møller, K. Grønskov, 2018 .

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

Z. Tümer, N. Tommerup, K. Brøndum‐Nielsen, 2011, European Journal of Human Genetics.

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

P. Mattar, S. Daiger, M. Cayouette, 2022, Science advances.

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

R. Christensen, J. Østergaard, I. Vogel, 2013, American journal of medical genetics. Part A.

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

D. Yannoukakos, J. Economides, K. Brøndum‐Nielsen, 2002, International journal of pediatric otorhinolaryngology.

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.

S. Detlefsen, H. Christesen, K. Brøndum‐Nielsen, 2020, European journal of medical genetics.

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

Robert W. Taylor, M. Larsen, P. Chinnery, 2012, Neurology.

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

M. Larsen, D. Milea, K. Brøndum‐Nielsen, 2011, BMC Medical Genetics.

A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome.

P. Guldberg, L. Larsen, K. Brøndum‐Nielsen, 2007, Clinical chemistry.

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome

Mackay, Z. Tümer, P. Lapunzina, 2018 .

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

A. Parving, K. Brøndum‐Nielsen, K. Grønskov, 2001, Scandinavian audiology.

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

K. Brøndum‐Nielsen, K. Grønskov, B. D’haene, 2009, Acta ophthalmologica.

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

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

Z. Tümer, K. Grønskov, H. Jensen, 2015, BMC Medical Genetics.

Oculocutaneous albinism

Karen Brondum-Nielsen, K. Brøndum‐Nielsen, K. Grønskov, 2007, Orphanet journal of rare diseases.

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

T. Rosenberg, K. Brøndum‐Nielsen, K. Brixen, 2009, Investigative ophthalmology & visual science.

Clinical utility gene card for: Oculocutaneous albinism

B. Lorenz, M. Preising, K. Brøndum‐Nielsen, 2014, European Journal of Human Genetics.

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

M. Larsen, T. Rosenberg, T. Bech-Hansen, 2016, Investigative ophthalmology & visual science.

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

R. Kelsh, D. Stemple, T. Rosenberg, 2013, American journal of human genetics.

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update

B. Brooks, K. Grønskov, H. Kuht, 2021, European Journal of Human Genetics.

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study.

Mervyn G. Thomas, M. Tobin, R. Hertle, 2022, Ophthalmology.

GJB2 mutations and degree of hearing loss: a multicenter study.

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

R. Hennekam, Z. Tümer, M. Kilby, 2018, Nature Reviews Endocrinology.

Screening of the ARX gene in 682 retarded males

H. Hjalgrim, K. Brøndum‐Nielsen, K. Grønskov, 2004, European Journal of Human Genetics.

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

M. Larsen, K. Grønskov, C. Rönnbäck, 2014, Acta ophthalmologica.

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Z. Tümer, T. Rosenberg, K. Brøndum‐Nielsen, 2020, Investigative Ophthalmology and Visual Science.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Z. Tümer, T. Rosenberg, Jianguo Zhang, 2019, Scientific Reports.

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

Z. Tümer, N. Tommerup, P. Guldberg, 2016, BMC Medical Genetics.

Absence of NR2E1 mutations in patients with aniridia

E. Simpson, A. Brooks-Wilson, M. Walter, 2012, Molecular vision.

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

T. Rosenberg, K. Brøndum‐Nielsen, K. Grønskov, 1999, European Journal of Human Genetics.

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort

L. Møller, K. Grønskov, Mette Bertelsen, 2023, Genes.

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.

B. Ursø, C. Christoffersen, P. De Meyts, 1995, Metabolism: clinical and experimental.

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.

B. No̸rgaard-Pedersen, L. Larsen, A. Parving, 2004, Genetic testing.

Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci

Z. Tümer, C. Acerini, O. Kordonouri, 2013, Diabetes Care.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

R. Weksberg, Z. Tümer, P. Lapunzina, 2016, European Journal of Human Genetics.

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

Z. Tümer, J. D. den Dunnen, T. Eggermann, 2018, Human mutation.

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

K. Schmiegelow, J. Brok, U. Stoltze, 2022, Journal of Medical Genetics.

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

K. Brøndum‐Nielsen, K. Grønskov, G. Almind, 2009, Molecular Cytogenetics.

Normal RNAi response in human fragile × fibroblasts

T. Jensen, C. Madsen, K. Brøndum‐Nielsen, 2009, BMC Research Notes.

The Insulin-Like Growth Factor-I Receptor

B. Ursø, C. Christoffersen, K. Grønskov, 1994, Hormone Research.

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

B. No̸rgaard-Pedersen, J. Vuust, L. Larsen, 2000, American journal of medical genetics.

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

V. Sheffield, A. Philp, T. Rosenberg, 2010, Human mutation.

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

M. Duno, K. Grønskov, B. Kjer, 2021, Ophthalmic genetics.

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

B. No̸rgaard-Pedersen, J. Vuust, L. Larsen, 1997, Human Genetics.

Usher syndrome in Denmark: mutation spectrum and some clinical observations

T. Rosenberg, A. Roux, H. Karstensen, 2016, Molecular genetics & genomic medicine.

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

M. Larsen, D. Sharon, L. Mizrahi-Meissonnier, 2012, Molecular vision.

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

B. No̸rgaard-Pedersen, J. Vuust, L. Larsen, 1999, European Journal of Human Genetics.

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

H. Hjalgrim, K. Brøndum‐Nielsen, K. Grønskov, 1997, American journal of human genetics.

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

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

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

K. Brøndum‐Nielsen, A. Pampanos, K. Grønskov, 2000, Human mutation.

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

B. Lorenz, D. Fischer, F. Parmeggiani, 2021, Orphanet Journal of Rare Diseases.

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

K. Brøndum‐Nielsen, K. Grønskov, E. Østergaard, 2002, Clinical genetics.

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

Z. Tümer, T. Eggermann, I. Temple, 2016, Clinical Epigenetics.

Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up

K. Grønskov, Mette Bertelsen, L. Kessel, 2022, Ophthalmic genetics.

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

Z. Tümer, T. Rosenberg, K. Brøndum‐Nielsen, 2020, Genes.

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

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Syddansk Universitet A pathogenic haplotype , common in Europeans , causes autosomal recessive albinism and uncovers missing heritability in OCA 1

T. Rosenberg, B. Andresen, K. Brøndum‐Nielsen, 2019 .

Apr 27, 2019 A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing

T. Rosenberg, B. Andresen, K. Brøndum‐Nielsen, 2019 .

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.

H. Tornqvist, P. De Meyts, K. Grønskov, 1993, Biochemical and biophysical research communications.

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

K. Brøndum‐Nielsen, K. Grønskov, A. Hallberg, 1998, Human Genetics.

Genetic and Clinical Characterization of Danish Achromatopsia Patients

S. Kohl, K. Grønskov, Mette Bertelsen, 2023, Genes.

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

Z. Tümer, K. Grønskov, H. Jensen, 2016, Ophthalmic epidemiology.

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

Z. Tümer, K. Brøndum‐Nielsen, L. Møller, 2021, International journal of molecular sciences.

A nonsense mutation in FMR1 causing fragile X syndrome

H. Hjalgrim, K. Brøndum‐Nielsen, K. Grønskov, 2011, European Journal of Human Genetics.

Clinical characterization of patients with PRPF31-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study

K. Grønskov, Mette Bertelsen, L. Kessel, 2023, Ophthalmic genetics.

Oculocutaneous albinism

K. Brøndum‐Nielsen, K. Grønskov, J. Ek, 2007 .

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

K. Schmiegelow, J. Brok, A. Byrjalsen, 2023, Journal of Medical Genetics.

Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy

H. Karstensen, K. Grønskov, S. Hammer-Hansen, 2022, Frontiers in Neurology.

RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations

K. Grønskov, Mette Bertelsen, L. Kessel, 2022, Ophthalmic genetics.

The Insulin-Like Growth Factor-I Receptor

B. Ursø, C. Christoffersen, K. Grønskov, 1994 .

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

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Recent Advances in Imprinting Disorders

Z. Tümer, D. Monk, E. Maher, 2017, Clinical genetics.

Loss of GFAP cause retinal dysplasia and vision impairment

T. Rosenberg, L. Larsen, S. T. Christensen, 2022, medRxiv.

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

Z. Tümer, K. Grønskov, H. Jensen, 2014, Clinical genetics.

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

Z. Tümer, K. Brøndum‐Nielsen, K. Grønskov, 2012, Neurobiology of Aging.

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

V. Sheffield, A. Philp, T. Rosenberg, 2010, Human mutation.

Optic Disc Drusen Prevalence in Patients With Retinitis Pigmentosa: A Cross-Sectional Study.

K. Grønskov, Mette Bertelsen, L. Malmqvist, 2023, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Oculocutaneous albinism

K. Brøndum‐Nielsen, K. Grønskov, J. Ek, 2007, Orphanet journal of rare diseases.

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

A. Pampanos, K. Grønskov, Karen Brøndum-Nielsen, 2000, Human Mutation.

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

Z. Tümer, K. Brøndum‐Nielsen, D. Mackay, 2011, Journal of Medical Genetics.

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.

Z. Tümer, K. Brøndum‐Nielsen, L. Møller, 2019, Stem cell research.

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

Z. Tümer, K. Grønskov, Daniella Bach-Holm, 2016, Journal of glaucoma.