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Digenic mutations in severe congenital neutropenia

Haematologica (Roma), 2010-07, Vol.95 (7), p.1207-1210

2010

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Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1

Haematologica (Roma), 2010-02, Vol.95 (2), p.320-323

2010

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1,25-Dihydroxyvitamin D decreases HTRA1 promoter activity in the rhesus monkey – A plausible explanation for the influence of vitamin D on age-related macular degeneration?

Experimental eye research, 2013-11, Vol.116, p.234-239

2013

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Familial thrombocytosis caused by the novel germ‐line mutation p.Pro106Leu in the MPL gene

British journal of haematology, 2009-01, Vol.144 (2), p.185-194

2009

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Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?

Fertility and sterility, 2012-02, Vol.97 (2), p.402-406

2012

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High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Molecular and cellular probes, 2013-04, Vol.27 (2), p.103-108

2013

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Qualitätssicherung in der humangenetischen Diagnostik

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2015-02, Vol.58 (2), p.121-126

Stuhrmann-Spangenberg, Manfred

2015

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Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy

International journal of cardiology, 2015-10, Vol.196, p.115-122

2015

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CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients

Pancreas, 2014-10, Vol.43 (7), p.1078-1082

2014

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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations

European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.51-65

2009

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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

European journal of human genetics : EJHG, 2008-08, Vol.17 (1), p.51-65

2008

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Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme

Human mutation, 2011-11, Vol.32 (11), p.1197-1203

2011

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No association of CNR1 gene variations with susceptibility to schizophrenia

Neuroscience letters, 2007-10, Vol.426 (1), p.29-33

2007

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Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1209-1215

2012

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Characterization of the 10q26-orthologue in rhesus monkeys corroborates a functional connection between ARMS2 and HTRA1

Experimental eye research, 2012-05, Vol.98, p.75-78

2012

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NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?

European journal of medical genetics, 2016-10, Vol.59 (10), p.493-498

2016

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Clinical utility gene card for: Haemochromatosis [HFE]

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1071-1071

2010

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Interrogating the genetic determinants of Tourette syndrome and other tic disorders through genome-wide association studies

The American journal of psychiatry, 2019-03, Vol.176 (3), p.217-227

2019

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Association of IL-8-251A/T polymorphism with incidence of Acute Respiratory Distress Syndrome (ARDS) and IL-8 synthesis after multiple trauma

Cytokine (Philadelphia, Pa.), 2007-03, Vol.37 (3), p.192-199

2007

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Are polymorphisms of molecules involved in bone healing correlated to aseptic femoral and tibial shaft non-unions?

Journal of orthopaedic research, 2011-11, Vol.29 (11), p.1724-1731

2011

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Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland

Molecular and cellular probes, 2015-02, Vol.29 (1), p.31-34

2015

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Quality assurance in human genetic testing

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2015-02, Vol.58 (2), p.121-126

Stuhrmann-Spangenberg, Manfred

2015

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Digenic mutations in severe congenital neutropenia

Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1

1,25-Dihydroxyvitamin D decreases HTRA1 promoter activity in the rhesus monkey – A plausible explanation for the influence of vitamin D on age-related macular degeneration?

Familial thrombocytosis caused by the novel germ‐line mutation p.Pro106Leu in the MPL gene

Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Qualitätssicherung in der humangenetischen Diagnostik

Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy

CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme

Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort

No association of CNR1 gene variations with susceptibility to schizophrenia

Genetic association signal near NTN4 in Tourette syndrome

Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Characterization of the 10q26-orthologue in rhesus monkeys corroborates a functional connection between ARMS2 and HTRA1

NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?

Clinical utility gene card for: Haemochromatosis [HFE]

Interrogating the genetic determinants of Tourette syndrome and other tic disorders through genome-wide association studies

Association of IL-8-251A/T polymorphism with incidence of Acute Respiratory Distress Syndrome (ARDS) and IL-8 synthesis after multiple trauma

Are polymorphisms of molecules involved in bone healing correlated to aseptic femoral and tibial shaft non-unions?

Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland

Quality assurance in human genetic testing

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