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Konzepte zur Mitteilung genetischer Zusatzbefunde in der medizinischen Diagnostik und Forschung

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2015-02, Vol.58 (2), p.166-173

2015

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Biallelic inactivation of TRAF3 in a subset of B-cell lymphomas with interstitial del(14)(q24.1q32.33)

Leukemia, 2009-11, Vol.23 (11), p.2153-2155

2009

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Genetische Information und Prävention

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2015-02, Vol.58 (2), p.111-112

2015

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Erste Richtlinien der Gendiagnostik-Kommission (GEKO)

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2011-11, Vol.54 (11), p.1145-1146

Tönnies, H.

2011

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Significance of gene expression analysis in uveal melanoma in comparison to standard risk factors for risk assessment of subsequent metastases

Eye (London), 2008-08, Vol.22 (8), p.997-1007

2008

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Sexuelle und reproduktive Gesundheit: Medizinisch-naturwissenschaftliche Aspekte

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2013-12, Vol.56 (12), p.1597-1599

2013

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Analysis of sporadic neuroendocrine tumours of the enteropancreatic system by comparative genomic hybridisation

Gut, 2001-04, Vol.48 (4), p.536-541

2001

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Disruption of the FA/BRCA pathway in bladder cancer

Cytogenetic and genome research, 2007-01, Vol.118 (2-4), p.166-176

2007

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First guidelines of the German Genetic Diagnostic Commission

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2011-11, Vol.54 (11), p.1145-1146

Tönnies, H

2011

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104 Emergence of a mucoid Staphylococcus argenteus in an individual with cystic fibrosis

Journal of cystic fibrosis, 2024-09, Vol.23, p.S55-S55

2024

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Chromosomal Integration Pattern of a Helper-Dependent Minimal Adenovirus Vector with a Selectable Marker Inserted into a 27.4-Kilobase Genomic Stuffer

Journal of Virology, 2001-10, Vol.75 (20), p.9896-9908

2001

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Sexual and reproductive health: medical/scientific aspects

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2013-12, Vol.56 (12), p.1597-1599

2013

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De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes

Journal of medical genetics, 2001-09, Vol.38 (9), p.617-621

2001

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Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13

Cytogenetic and genome research, 2006-08, Vol.114 (3-4), p.325-329

2006

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Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes

Journal of medical genetics, 2002-06, Vol.39 (6), p.434-439

2002

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First Systematic CGH-based Analyses of Ancient DNA Samples of Malformed Fetuses Preserved in the Meckel Anatomical Collection in Halle/Saale (Germany)

The journal of histochemistry and cytochemistry, 2005-03, Vol.53 (3), p.381-384

2005

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Prenatal Diagnosis and Molecular Cytogenetic Characterization of an Unusual Complex Structural Rearrangement in a Pregnancy Following Intracytoplasmic Sperm Injection (ICSI)

The journal of histochemistry and cytochemistry, 2005-03, Vol.53 (3), p.351-354

2005

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First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q

Cytogenetic and genome research, 2008-01, Vol.121 (3-4), p.293-297

2008

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Partial trisomy 9p12p21.3 with a normal phenotype

Journal of medical genetics, 2002-02, Vol.39 (2), p.141-144

2002

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First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

Cytogenetic and genome research, 2005-01, Vol.108 (4), p.278-282

2005

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Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH

Journal of medical genetics, 2001-06, Vol.38 (6), p.e21-e21

2001

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Jacobsen Syndrome and Beckwith‐Wiedemann Syndrome Caused by a Parental Pericentric Inversion inv(11)(p15q24)

Annals of human genetics, 2006-11, Vol.70 (6), p.958-964

2006

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Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics

Cytogenetic and genome research, 2001-01, Vol.93 (3-4), p.188-194

2001

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Autosomal dominant Parkinson's disease in a large German pedigree

Acta neurologica Scandinavica, 2012-08, Vol.126 (2), p.129-137

2012

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Genetic information and prevention

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2015-02, Vol.58 (2), p.111-112

2015

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Konzepte zur Mitteilung genetischer Zusatzbefunde in der medizinischen Diagnostik und Forschung

Biallelic inactivation of TRAF3 in a subset of B-cell lymphomas with interstitial del(14)(q24.1q32.33)

Genetische Information und Prävention

Erste Richtlinien der Gendiagnostik-Kommission (GEKO)

Significance of gene expression analysis in uveal melanoma in comparison to standard risk factors for risk assessment of subsequent metastases

Sexuelle und reproduktive Gesundheit: Medizinisch-naturwissenschaftliche Aspekte

Analysis of sporadic neuroendocrine tumours of the enteropancreatic system by comparative genomic hybridisation

Disruption of the FA/BRCA pathway in bladder cancer

First guidelines of the German Genetic Diagnostic Commission

104 Emergence of a mucoid Staphylococcus argenteus in an individual with cystic fibrosis

Chromosomal Integration Pattern of a Helper-Dependent Minimal Adenovirus Vector with a Selectable Marker Inserted into a 27.4-Kilobase Genomic Stuffer

Sexual and reproductive health: medical/scientific aspects

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes

Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13

Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes

First Systematic CGH-based Analyses of Ancient DNA Samples of Malformed Fetuses Preserved in the Meckel Anatomical Collection in Halle/Saale (Germany)

Prenatal Diagnosis and Molecular Cytogenetic Characterization of an Unusual Complex Structural Rearrangement in a Pregnancy Following Intracytoplasmic Sperm Injection (ICSI)

First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q

Partial trisomy 9p12p21.3 with a normal phenotype

First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH

Jacobsen Syndrome and Beckwith‐Wiedemann Syndrome Caused by a Parental Pericentric Inversion inv(11)(p15q24)

Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics

Autosomal dominant Parkinson's disease in a large German pedigree

Genetic information and prevention

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