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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Clinical genetics, 2016-01, Vol.89 (1), p.34-43

2016

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Congenital heart disease is a feature of severe infantile spinal muscular atrophy

Journal of medical genetics, 2008-10, Vol.45 (10), p.635-638

2008

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Non-invasive Genetic Prenatal Testing - A Serious Challenge for Society as a Whole

Zeitschrift fur Geburtshilfe und Neonatologie, 2015-04, Vol.219 (2), p.69

Zerres, K

2015

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Non-directivity as a guiding category in human genetic counselling in a historical perspective

Medizinische Genetik, 2022-10, Vol.34 (3), p.233-239

2022

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Genetics and epigenetics. Explanatory approaches for (gender-specific) mechanisms of disease development

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2014-09, Vol.57 (9), p.1047-1053

2014

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NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features

Clinical genetics, 2017-01, Vol.91 (1), p.73-78

2017

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Effects of a CACNA1C genotype on attention networks in healthy individuals

Psychological medicine, 2011-07, Vol.41 (7), p.1551-1561

2011

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Alcohol Consumption in Healthy OPRM1 G Allele Carriers and Its Association with Impulsive Behavior

Alcohol and alcoholism (Oxford), 2015-07, Vol.50 (4), p.379-384

2015

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Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia

American journal of human genetics, 2006-12, Vol.79 (6), p.1105-1109

2006

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Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.151-155

2015

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Medial temporal lobe dysfunction during encoding and retrieval of episodic memory in non-demented APOE ε4 carriers

Neuroscience, 2010-06, Vol.168 (2), p.487-497

2010

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Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling

American journal of human genetics, 1999-05, Vol.64 (5), p.1340-1356

1999

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Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

Clinical genetics, 2009-08, Vol.76 (2), p.168-178

2009

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Genetik und Epigenetik: Erklärungsansätze für (geschlechtsspezifische) Mechanismen der Krankheitsentstehung

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2014-09, Vol.57 (9), p.1047-1053

2014

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Stress and coping in parents of children and adolescents with spinal muscular atrophy

Klinische Padiatrie, 2012-07, Vol.224 (4), p.247

2012

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Life with too much polyprenol: polyprenol reductase deficiency

Molecular genetics and metabolism, 2012-04, Vol.105 (4), p.642-651

2012

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Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients

European journal of neurology, 2011-01, Vol.18 (1), p.191-194

2011

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Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Journal of medical genetics, 2007-06, Vol.44 (6), p.e81-e81

2007

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Genetic variation in schizophrenia-risk-gene dysbindin 1 modulates brain activation in anterior cingulate cortex and right temporal gyrus during language production in healthy individuals

NeuroImage (Orlando, Fla.), 2009-10, Vol.47 (4), p.2016-2022

2009

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Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.642-649

2003

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Oligophrenin 1 (OPHN1) gene mutation causes syndromic X‐linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

Brain (London, England : 1878), 2003-07, Vol.126 (7), p.1537-1544

2003

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Nicht-Direktivität als Leitkategorie in der humangenetischen Beratung in zeithistorischer Betrachtung

Medizinische Genetik, 2022-10, Vol.34 (3), p.233-239

2022

Volltextzugriff (PDF)

Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome

Molecular syndromology, 2013-06, Vol.4 (5), p.246-249

2013

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Outcome and effect of pregnancy in myotonic dystrophy type 2

Neurology, 2006-02, Vol.66 (4), p.579

2006

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Association of the DTNBP1 genotype with cognition and personality traits in healthy subjects

Psychological medicine, 2009-10, Vol.39 (10), p.1657-1665

2009

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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

Non-invasive Genetic Prenatal Testing - A Serious Challenge for Society as a Whole

Non-directivity as a guiding category in human genetic counselling in a historical perspective

Genetics and epigenetics. Explanatory approaches for (gender-specific) mechanisms of disease development

NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features

Effects of a CACNA1C genotype on attention networks in healthy individuals

Alcohol Consumption in Healthy OPRM1 G Allele Carriers and Its Association with Impulsive Behavior

Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome

Medial temporal lobe dysfunction during encoding and retrieval of episodic memory in non-demented APOE ε4 carriers

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

Genetik und Epigenetik: Erklärungsansätze für (geschlechtsspezifische) Mechanismen der Krankheitsentstehung

Stress and coping in parents of children and adolescents with spinal muscular atrophy

Life with too much polyprenol: polyprenol reductase deficiency

Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Genetic variation in schizophrenia-risk-gene dysbindin 1 modulates brain activation in anterior cingulate cortex and right temporal gyrus during language production in healthy individuals

Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X‐linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

Nicht-Direktivität als Leitkategorie in der humangenetischen Beratung in zeithistorischer Betrachtung

Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome

Outcome and effect of pregnancy in myotonic dystrophy type 2

Association of the DTNBP1 genotype with cognition and personality traits in healthy subjects

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