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Cornelia de Lange syndrome

Clinical genetics, 2015-07, Vol.88 (1), p.1-12

2015

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Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

Clinical genetics, 2019-02, Vol.95 (2), p.221-230

2019

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Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing

Clinical genetics, 2010-04, Vol.77 (4), p.342-349

2010

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Breast cancer after bilateral risk-reducing mastectomy

Clinical genetics, 2011-05, Vol.79 (5), p.431-437

2011

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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Clinical genetics, 2016-06, Vol.89 (6), p.733-738

2016

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Detection of triploidy at 11–14 weeks' gestation: a cohort study of 198 000 pregnant women

Ultrasound in obstetrics & gynecology, 2013-11, Vol.42 (5), p.530-535

2013

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A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome

Journal of medical genetics, 2009-10, Vol.46 (10), p.703-710

2009

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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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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

Journal of medical genetics, 1997-10, Vol.34 (10), p.798-804

1997

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Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

JNCI : Journal of the National Cancer Institute, 2001-01, Vol.93 (2), p.121-127

2001

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Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

American journal of medical genetics. Part A, 2004-11, Vol.130A (4), p.340-344

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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Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia

British journal of cancer, 2005-07, Vol.93 (2), p.260-265

2005

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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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Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

American journal of medical genetics, 2005-01, Vol.132A (3), p.324-328

2005

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Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Journal of medical genetics, 2000-11, Vol.37 (11), p.858-865

2000

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Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring

Acta Paediatrica, 2001-04, Vol.90 (4), p.455-459

2001

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Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia

Human mutation, 2000-09, Vol.16 (3), p.232-246

2000

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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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Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

Human molecular genetics, 2001-02, Vol.10 (4), p.353-360

2001

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Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

Human molecular genetics, 1998-06, Vol.7 (6), p.1011-1019

1998

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Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

Journal of medical genetics, 1999-04, Vol.36 (4), p.271-278

1999

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Further delineation of the 22q13 deletion syndrome

Clinical dysmorphology, 2005-04, Vol.14 (2), p.55

2005

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Clonal Ph-negative hematopoiesis in CML after therapy with imatinib mesylate is frequently characterized by trisomy 8

Leukemia, 2002-07, Vol.16 (7), p.1390-1393

2002

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Low bone formation phenotype in patients with Rett syndrome

Bone (New York, N.Y.), 2011-05, Vol.48, p.S248-S249

2011

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Cornelia de Lange syndrome

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing

Breast cancer after bilateral risk-reducing mastectomy

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Detection of triploidy at 11–14 weeks' gestation: a cohort study of 198 000 pregnant women

A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome

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

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

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

Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia

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

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring

Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia

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

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

Further delineation of the 22q13 deletion syndrome

Clonal Ph-negative hematopoiesis in CML after therapy with imatinib mesylate is frequently characterized by trisomy 8

Low bone formation phenotype in patients with Rett syndrome

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