Lista de obras -

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

A nonsense mutation in FMR1 causing fragile X syndrome ⬇️

artículo científico publicado el 26 de enero de 2011

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

artículo científico publicado en 2008

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

artículo científico publicado el 26 de agosto de 2011

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

artículo científico publicado en 2019

Absence of NR2E1 mutations in patients with aniridia.

artículo científico publicado en 2012

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.

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Clinical utility gene card for: Oculocutaneous albinism

artículo científico publicado en 2014

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado el 1 de octubre de 1997

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Fragile X syndrome. Diagnosis, genetics and clinical findings

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado el 4 de abril de 2011

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

artículo científico publicado en 2015

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

artículo científico publicado el 1 de octubre de 1997

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2001

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 1993

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

artículo científico publicado en 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

artículo científico publicado en 2008

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.

artículo científico publicado en 2015

Recent Advances in Imprinting Disorders.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

Screening for fragile X syndrome. International experiences

artículo científico publicado en 2006

Screening of the ARX gene in 682 retarded males.

artículo científico publicado en 2004

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

artículo científico publicado en 2017

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

artículo científico publicado en 1994

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

artículo científico publicado en 2019

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

artículo científico publicado en 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]

artículo científico publicado en 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

Lista de obras de

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]