List of works - Karen Grønskov

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

scientific article published on 17 February 2009

A family with bilateral symmetrical sectoral pigmentary retinal lesions - a 50-year-old case solved

scientific article published on 24 December 2018

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

scientific article published on 26 January 2007

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

scientific article

A nonsense mutation in FMR1 causing fragile X syndrome ⬇️

scientific article published on January 26, 2011

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

scientific article

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

scientific article published on August 26, 2011

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

scientific article published in Scientific Reports

Absence of NR2E1 mutations in patients with aniridia.

scientific article

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.

scientific article published in October 1999

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

scientific article published on 02 August 2013

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

scientific article published on 4 November 2016

Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders ⬇️

scientific article published in June 2014

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

scientific article published on 23 June 2015

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

scientific article published on December 2016

Clinical utility gene card for: Oculocutaneous albinism

scientific article

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

scientific article published on 23 August 2016

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

scientific article

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

scientific article published on October 1, 1997

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

scientific article published on 28 January 2011

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

scientific article

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

scientific article

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

scientific article published on 11 May 2016

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

scientific article published on 7 March 2016

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

scientific article

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

scientific article published on 13 December 2015

Fragile X syndrome. Diagnosis, genetics and clinical findings

scientific article published in September 1998

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

scientific article published on 10 August 2018

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

scientific article published on 20 September 2018

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

scientific article

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

scientific article published on April 4, 2011

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

scientific article published on 19 September 2015

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

scientific article published on October 1, 1997

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

scientific article

Increasing the complexity: new genes and new types of albinism.

scientific article

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

scientific article published in January 2001

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

scientific article

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

scientific article published in Scientific Reports

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

scientific article published on 13 April 2014

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

scientific article published on 01 April 1993

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

scientific article published in April 1999

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

scientific article published on 01 April 1998

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

scientific article

Population-based risk estimates of Wilms tumor in sporadic aniridia

article

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

scientific article published on 28 October 2015

Recent Advances in Imprinting Disorders.

scientific article published on July 2016

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

scientific article published on 11 March 2014

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

scientific article published on 01 November 2009

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

scientific article published in August 2007

Screening for fragile X syndrome. International experiences

scientific article published in October 2006

Screening of the ARX gene in 682 retarded males.

scientific article published in September 2004

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

scientific article

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

scientific article published on January 1994

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

scientific article published on 21 February 2019

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up

scientific article published on 12 November 2012

Usher syndrome in Denmark: mutation spectrum and some clinical observations

scientific article published on 28 June 2016

[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms]

scientific article published on 01 May 2005

[Fragile X chromosomes and fragile X syndrome]

scientific article published on 01 October 2006

[From intellectual disability to new treatment modalities of fragile X syndrome] ⬇️

scientific article published on 01 February 2014

[The genetic background for the eye malformations anophthalmia and microphthalmia]

scientific article published on 01 March 2012

List of works by Karen Grønskov

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

A family with bilateral symmetrical sectoral pigmentary retinal lesions - a 50-year-old case solved

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

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

A nonsense mutation in FMR1 causing fragile X syndrome ⬇️

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

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

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

Absence of NR2E1 mutations in patients with aniridia.

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.

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

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

Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders ⬇️

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

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

Clinical utility gene card for: Oculocutaneous albinism

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

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

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

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

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

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

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

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

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

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

Fragile X syndrome. Diagnosis, genetics and clinical findings

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

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

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

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

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

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

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

Increasing the complexity: new genes and new types of albinism.

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

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

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

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

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

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

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

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

Population-based risk estimates of Wilms tumor in sporadic aniridia

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

Recent Advances in Imprinting Disorders.

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

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

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

Screening for fragile X syndrome. International experiences

Screening of the ARX gene in 682 retarded males.

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

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

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

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up

Usher syndrome in Denmark: mutation spectrum and some clinical observations

[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms]

[Fragile X chromosomes and fragile X syndrome]

[From intellectual disability to new treatment modalities of fragile X syndrome] ⬇️

[The genetic background for the eye malformations anophthalmia and microphthalmia]