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Cornelia de Lange syndrome

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

2015

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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 37‐year‐old Menkes disease patient—Residual ATP7A activity and early copper administration as key factors in beneficial treatment

Clinical genetics, 2017-11, Vol.92 (5), p.548-553

2017

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SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Clinical genetics, 2013-10, Vol.84 (4), p.388-391

2013

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Response to Dylan Mordaunt and Alisha McLauchlan

Clinical genetics, 2015-07, Vol.88 (1), p.99-100

2015

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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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A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome – review of the literature

Clinical genetics, 2017-04, Vol.91 (4), p.647-649

2017

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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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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Journal of medical genetics, 2008-11, Vol.45 (11), p.704-709

2008

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Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

Clinical genetics, 2012-09, Vol.82 (3), p.292-294

2012

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Breakpoints around the HOXD cluster result in various limb malformations

Journal of medical genetics, 2006-02, Vol.43 (2), p.111-118

2006

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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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449P Molecular biomarkers in myotonic dystrophy type 1

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.524

2024

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Investigation of 4q-deletion in two unrelated patients using array CGH

American journal of medical genetics. Part A, 2008-09, Vol.146A (18), p.2431-2434

2008

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P386 Molecular biomarkers in myotonic dystrophy type 1

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S155-S155

2023

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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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Mowat-Wilson syndrome: an underdiagnosed syndrome?

Clinical genetics, 2008-06, Vol.73 (6), p.579-584

2008

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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

Journal of medical genetics, 2008-10, Vol.45 (10), p.672-678

2008

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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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Genetic anticipation in Behçet’s syndrome

Annals of the rheumatic diseases, 1998-01, Vol.57 (1), p.45-48

1998

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Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

Clinical genetics, 2007-11, Vol.72 (5), p.464-470

2007

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Genome-wide Gene Expression Profiling of SCID Mice with T-cell-mediated Colitis

Scandinavian journal of immunology, 2009-05, Vol.69 (5), p.437-446

2009

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Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe

Clinical genetics, 2007-12, Vol.72 (6), p.593-598

2007

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Identification of point mutations in 41 unrelated patients affected with Menkes disease

American journal of human genetics, 1997, Vol.60 (1), p.63-71

1997

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Cornelia de Lange syndrome

Recent Advances in Imprinting Disorders

A 37‐year‐old Menkes disease patient—Residual ATP7A activity and early copper administration as key factors in beneficial treatment

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Response to Dylan Mordaunt and Alisha McLauchlan

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

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome – review of the literature

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

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

Breakpoints around the HOXD cluster result in various limb malformations

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

449P Molecular biomarkers in myotonic dystrophy type 1

Investigation of 4q-deletion in two unrelated patients using array CGH

P386 Molecular biomarkers in myotonic dystrophy type 1

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

Mowat-Wilson syndrome: an underdiagnosed syndrome?

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

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

Genetic anticipation in Behçet’s syndrome

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

Genome-wide Gene Expression Profiling of SCID Mice with T-cell-mediated Colitis

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe

Identification of point mutations in 41 unrelated patients affected with Menkes disease

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