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Humangenetische Beratung in Deutschland: Entwicklung der Inanspruchnahme

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2020-09, Vol.63 (9), p.1161-1167

2020

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High resolution ArrayCGH and expression profiling identifies PTPRD and PCDH17/PCH68 as tumor suppressor gene candidates in laryngeal squamous cell carcinoma

Genes chromosomes & cancer, 2011-03, Vol.50 (3), p.154-166

2011

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Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications

Anemia, 2012-01, Vol.2012 (2012), p.118-123

2012

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Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

The Journal of clinical investigation, 2002-02, Vol.109 (4), p.475-480

2002

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Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor

Blood, 2003-05, Vol.101 (10), p.3872-3874

2003

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Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignancies

Blood, 2010-08, Vol.116 (8), p.1317-1320

2010

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Newborn screening in Germany

Medizinische Genetik, 2022-05, Vol.34 (1), p.1-2

2022

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A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

European journal of pediatrics, 2008-08, Vol.167 (8), p.903-908

2008

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Grundlagen und aktueller Stand des Neugeborenen-Screenings auf angeborene Störungen des Stoffwechsels, des Hormon- und Immunsystems in Deutschland

Medizinische Genetik, 2020-08, Vol.32 (1), p.67-74

2020

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A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

European journal of medical genetics, 2011-09, Vol.54 (5), p.e501-e504

2011

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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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Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

Human mutation, 2013-10, Vol.34 (10), p.1322-1328

2013

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Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study

Movement disorders, 2022-12, Vol.37 (12), p.2427-2439

2022

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Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3

American journal of medical genetics, 2004-07, Vol.128A (1), p.85-92

2004

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Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Orphanet journal of rare diseases, 2007-01, Vol.2 (1), p.5-5, Article 5

2007

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A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2

American journal of medical genetics. Part A, 2006-04, Vol.140 (8), p.873-877

2006

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Dosage effect of zero to three functional LBR-genes in vivo and in vitro

Nucleus (Austin, Tex.), 2010-03, Vol.1 (2), p.179-189

2010

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Genetic counseling in Germany: development of demand

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2020-09, Vol.63 (9), p.1161-1167

2020

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Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

Epilepsia (Copenhagen), 2010-09, Vol.51 (9), p.1870-1873

2010

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Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

Molecular cytogenetics, 2010-03, Vol.3 (1), p.5-5

2010

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Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

JAMA neurology, 2017-07, Vol.74 (7), p.806

2017

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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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Humangenetische Beratung in Deutschland: Entwicklung der Inanspruchnahme

Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia

High resolution ArrayCGH and expression profiling identifies PTPRD and PCDH17/PCH68 as tumor suppressor gene candidates in laryngeal squamous cell carcinoma

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor

Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignancies

Newborn screening in Germany

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

Grundlagen und aktueller Stand des Neugeborenen-Screenings auf angeborene Störungen des Stoffwechsels, des Hormon- und Immunsystems in Deutschland

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

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

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

IGH@ Translocations Involving the Pseudoautosomal Region 1 (PAR1) of Both Sex Chromosomes Deregulate the Cytokine Receptor-Like Factor 2 (CRLF2) Gene in B Cell Precursor Acute Lymphoblastic Leukemia (BCP-ALL)

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2

Dosage effect of zero to three functional LBR-genes in vivo and in vitro

Genetic counseling in Germany: development of demand

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

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

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