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Collembolan Transcriptomes Highlight Molecular Evolution of Hexapods and Provide Clues on the Adaptation to Terrestrial Life

PloS one, 2015-06, Vol.10 (6), p.e0130600-e0130600

2015

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A full-body transcriptome and proteome resource for the European common carp

BMC genomics, 2016-09, Vol.17 (1), p.701-701, Article 701

2016

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Relative power and sample size analysis on gene expression profiling data

BMC genomics, 2009-09, Vol.10 (1), p.439-439, Article 439

2009

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Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

Clinical genetics, 2009-05, Vol.75 (5), p.465-472

2009

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Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells

Gene therapy, 2004-09, Vol.11 (18), p.1391-1398

2004

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Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling

BMC genomics, 2005-07, Vol.6 (1), p.98-98, Article 98

2005

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Next generation sequencing technology: Advances and applications

Biochimica et biophysica acta. Molecular basis of disease, 2014-10, Vol.1842 (10), p.1932-1941

2014

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Common pathological mechanisms in mouse models for muscular dystrophies

The FASEB journal, 2006-01, Vol.20 (1), p.127-129

2006

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WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple Myeloma

Human molecular genetics, 1998-07, Vol.7 (7), p.1071-1082

1998

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Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

Journal of medical genetics, 2005-12, Vol.42 (12), p.922-931

2005

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Copy number variation in the genome; the human DMD gene as an example

Cytogenetic and genome research, 2006-11, Vol.115 (3-4), p.240-246

2006

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Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

American journal of human genetics, 1989-12, Vol.45 (6), p.835-847

1989

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Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.295-298

2005

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Genomic imbalances in mental retardation

Journal of medical genetics, 2004-04, Vol.41 (4), p.249-255

2004

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Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)

Neuromuscular disorders : NMD, 2011-08, Vol.21 (8), p.569-578

2011

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Recommendations for locus-specific databases and their curation

Human mutation, 2008, Vol.29 (1), p.2-5

2008

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Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy

Journal of immunological methods, 2003-08, Vol.279 (1), p.149-161

2003

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The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome

Familial cancer, 2013-06, Vol.12 (2), p.175-180

2013

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Nomenclature for the description of human sequence variations

Human genetics, 2001-07, Vol.109 (1), p.121-124

2001

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High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes

Human molecular genetics, 1995-05, Vol.4 (5), p.831-836

1995

Volltextzugriff (PDF)

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Human mutation, 2000-01, Vol.15 (1), p.7-12

2000

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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Clinical pharmacology and therapeutics, 2016-02, Vol.99 (2), p.172-185

2016

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Nomenclature for the description of human sequence variations

Human genetics, 2001-07, Vol.109 (1), p.121-124

2001

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Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration

Human mutation, 2009-03, Vol.30 (3), p.275-282

2009

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Variation of CNV distribution in five different ethnic populations

Cytogenetic and genome research, 2007-01, Vol.118 (1), p.19-30

2007

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Collembolan Transcriptomes Highlight Molecular Evolution of Hexapods and Provide Clues on the Adaptation to Terrestrial Life

A full-body transcriptome and proteome resource for the European common carp

Relative power and sample size analysis on gene expression profiling data

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells

Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling

Next generation sequencing technology: Advances and applications

Common pathological mechanisms in mouse models for muscular dystrophies

WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple Myeloma

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

Copy number variation in the genome; the human DMD gene as an example

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

Genomic imbalances in mental retardation

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)

Recommendations for locus-specific databases and their curation

Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy

The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome

Nomenclature for the description of human sequence variations

High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Nomenclature for the description of human sequence variations

Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration

Variation of CNV distribution in five different ethnic populations

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