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10 Jahre Gendiagnostikgesetz – wie kann die Vernichtungspflicht für Ergebnisse genetischer Analysen und Untersuchungen praktisch umgesetzt werden?

Medizinische Genetik, 2020-08, Vol.32 (1), p.75-78

Heidemann, Simone

2020

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CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort

Archives of gynecology and obstetrics, 2018-01, Vol.297 (1), p.147-152

2018

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DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples

PloS one, 2012-06, Vol.7 (6), p.e39014

2012

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First experiences with the introduction of genetic counselors in human genetic services in the German‐speaking countries

Journal of genetic counseling, 2024-11

2024

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The current state of the genetic counselor profession in the German-speaking countries

Genetics in Medicine Open, 2024-05, p.101849, Article 101849

2024

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Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10

Molecular cytogenetics, 2011-12, Vol.4 (1), p.28-28

2011

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Reply to letter by Dr. G. Corso

Archives of gynecology and obstetrics, 2018-04, Vol.297 (4), p.1069-1069

2018

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Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Cancer research (Chicago, Ill.), 2010-12, Vol.70 (23), p.9742-9754

2010

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Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

Molecular cytogenetics, 2010-09, Vol.3 (1), p.16-16

2010

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Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.488-495

2006

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Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop

Medizinische Genetik, 2021-04, Vol.33 (1), p.35-44

2021

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Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management

Breast cancer research and treatment, 2012-08, Vol.134 (3), p.1229-1239

2012

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Integration of amplified BCR/ABL fusion genes into the short arm of chromosome 17 as a novel mechanism of disease progression in chronic myeloid leukemia

Genes chromosomes & cancer, 2001-05, Vol.31 (1), p.10-14

2001

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Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma

International journal of oncology, 2011-08, Vol.39 (2), p.505-514

2011

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Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome

Journal of perinatal medicine, 2012-04, Vol.40 (3), p.215-223

2012

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Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies

Archives of gynecology and obstetrics, 2013-11, Vol.288 (5), p.1153-1158

2013

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A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

Epilepsia (Copenhagen), 2010-12, Vol.51 (12), p.2453-2456

2010

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Implikationen des Gendiagnostikgesetzes (GenDG) für die Laboratoriumsmedizin/Implications of the German Human Genetic Examination Act on laboratory medicine

Laboratoriumsmedizin, 2011-09, Vol.35 (5), p.233-241

2011

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The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity

American journal of human genetics, 2007-10, Vol.81 (4), p.847-856

2007

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Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans

American journal of human genetics, 2006-05, Vol.78 (5), p.878-883

2006

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A duplication in Iq21.3 in a family with early onset and childhood absence epilepsy

Epilepsia (Copenhagen), 2010, Vol.51 (12), p.2453-2456

2010

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Reversed Pulmonary Artery Flow in Isolated Noncompaction of the Ventricular Myocardium

Fetal diagnosis and therapy, 2007-01, Vol.22 (1), p.29-32

2007

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Implications of the German Human Genetic Examination Act on laboratory medicine

Laboratoriumsmedizin, 2011-09, Vol.35 (5), p.233-241

2011

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Implications of the German Human Genetic Examination Act on laboratory medicine 1),2),3

Laboratoriumsmedizin, 2011, Vol.35 (5), p.---

2011

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Implikationen des Gendiagnostikgesetzes (GenDG) für die Laboratoriumsmedizin/Implications of the German Human Genetic Examination Act on laboratory medicine

Laboratoriumsmedizin, 2011-01, Vol.35 (5), p.233-241

2011

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10 Jahre Gendiagnostikgesetz – wie kann die Vernichtungspflicht für Ergebnisse genetischer Analysen und Untersuchungen praktisch umgesetzt werden?

CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort

DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples

First experiences with the introduction of genetic counselors in human genetic services in the German‐speaking countries

The current state of the genetic counselor profession in the German-speaking countries

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10

Reply to letter by Dr. G. Corso

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management

Integration of amplified BCR/ABL fusion genes into the short arm of chromosome 17 as a novel mechanism of disease progression in chronic myeloid leukemia

Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma

Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome

Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

Implikationen des Gendiagnostikgesetzes (GenDG) für die Laboratoriumsmedizin/Implications of the German Human Genetic Examination Act on laboratory medicine

The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity

Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans

A duplication in Iq21.3 in a family with early onset and childhood absence epilepsy

Reversed Pulmonary Artery Flow in Isolated Noncompaction of the Ventricular Myocardium

Implications of the German Human Genetic Examination Act on laboratory medicine

Implications of the German Human Genetic Examination Act on laboratory medicine 1),2),3

Implikationen des Gendiagnostikgesetzes (GenDG) für die Laboratoriumsmedizin/Implications of the German Human Genetic Examination Act on laboratory medicine

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