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Recent Advances in Imprinting Disorders

Clinical genetics, 2017-01, Vol.91 (1), p.3-13

2017

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

British journal of ophthalmology, 2009-03, Vol.93 (3), p.409-413

2009

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

Clinical genetics, 2014-09, Vol.86 (3), p.276-281

2014

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Screening of the ARX gene in 682 retarded males

European journal of human genetics : EJHG, 2004-09, Vol.12 (9), p.701-705

2004

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

Clinical genetics, 2002-10, Vol.62 (4), p.303-305

2002

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

European journal of medical genetics, 2020-01, Vol.63 (1), p.103632-103632, Article 103632

2020

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

Human mutation, 2000-07, Vol.16 (1), p.7-12

2000

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

Journal of medical genetics, 2011-05, Vol.48 (5), p.308-311

2011

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Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia

Human genetics, 2001-07, Vol.109 (1), p.11-18

2001

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

European journal of human genetics : EJHG, 1999-04, Vol.7 (3), p.274-286

1999

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

The journal of clinical endocrinology and metabolism, 1993-12, Vol.77 (6), p.1500-1505

1993

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

Hormone research, 1994, Vol.42 (4-5), p.152

1994

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

Scandinavian Audiology, 2001, Vol.30 (3), p.184-188

2001

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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

Biochemical and biophysical research communications, 1993-04, Vol.192 (2), p.905-911

1993

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Prevalence of GJB2 mutations in prelingual deafness in the Greek population

International journal of pediatric otorhinolaryngology, 2002-09, Vol.65 (2), p.101-108

2002

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

Human genetics, 1998-04, Vol.102 (4), p.440-445

1998

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

American journal of human genetics, 1997-10, Vol.61 (4), p.961-967

1997

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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

Metabolism, clinical and experimental, 1995-10, Vol.44 (10), p.2-11

1995

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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”

Human genetics, 1998-09, Vol.103 (3), p.366-366

1998

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

American journal of medical genetics, 2000-07, Vol.93 (2), p.99-106

2000

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

Ugeskrift for læger, 2005-05, Vol.167 (22), p.2394

2005

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Screening for fragile X syndrome. International experiences

Ugeskrift for læger, 2006-10, Vol.168 (43), p.3704

2006

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

Genetic testing, 2004-06, Vol.8 (2), p.181-184

2004

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Fragile X syndrome. Diagnosis, genetics and clinical findings

Ugeskrift for læger, 1998-09, Vol.160 (37), p.5330

1998

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Recent Advances in Imprinting Disorders

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

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

Screening of the ARX gene in 682 retarded males

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

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

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

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

Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia

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

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

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

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

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

Prevalence of GJB2 mutations in prelingual deafness in the Greek population

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

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

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

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”

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

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

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

Screening for fragile X syndrome. International experiences

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

Fragile X syndrome. Diagnosis, genetics and clinical findings

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