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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 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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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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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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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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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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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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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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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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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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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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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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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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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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Fragile X syndrome. Diagnosis, genetics and clinical findings

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

1998

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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

European journal of human genetics : EJHG, 1999-10, Vol.7 (7), p.771-777

1999

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

Human genetics, 1997-10, Vol.100 (5-6), p.564-568

1997

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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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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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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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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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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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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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Recent Advances in Imprinting Disorders

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

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

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

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

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

Screening of the ARX gene in 682 retarded males

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

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

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

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

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

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

Fragile X syndrome. Diagnosis, genetics and clinical findings

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

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

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

Prevalence of GJB2 mutations in prelingual deafness in the Greek population

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

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”

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

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

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