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Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p

American journal of human genetics, 2006-10, Vol.79 (4), p.731-737

2006

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Rapid and sustained remission of systemic juvenile idiopathic arthritis-associated macrophage activation syndrome through treatment with anakinra and corticosteroids

Journal of clinical rheumatology, 2011-01, Vol.17 (1), p.23

2011

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Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany

Pediatric pulmonology, 2015-07, Vol.50 (7), p.655-664

2015

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Presentations and Treatment of Childhood Scleroderma: Localized Scleroderma, Eosinophilic Fasciitis, Systemic Sclerosis, and Graft-Versus-Host Disease

Clinical pediatrics, 2011-07, Vol.50 (7), p.604-614

2011

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Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95ΔTM), is the basis for ALPS Ia in a family with duplicated 3′ splice site AG in CD95 intron 5 on one allele

Blood, 2005-09, Vol.106 (5), p.1652-1659

2005

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A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD)

Gene, 2006-04, Vol.371 (2), p.174-181

2006

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Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY)

Human mutation, 2005-05, Vol.25 (5), p.503-504

2005

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Two German CINCA (NOMID) patients with different clinical severity and response to anti‐inflammatory treatment

European journal of haematology, 2003-09, Vol.71 (3), p.215-214

2003

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Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients - expanding phenotype of CIAS1 related autoinflammatory syndrome

European journal of haematology, 2004-08, Vol.73 (2), p.123-127

2004

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Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD)

Journal of evaluation in clinical practice, 2005-12, Vol.11 (6), p.513-521

2005

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Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin’s disease

Experimental hematology, 1999-05, Vol.27 (5), p.868-874

1999

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Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease

Experimental hematology, 1999-03, Vol.27 (3), p.505-511

1999

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Immunodeficiency with recurrent panlymphocytopenia, impaired maturation of B lymphocytes, impaired interaction of T and B lymphocytes, and impaired integrity of epithelial tissue: A variant of idiopathic CD4+ T lymphocytopenia?

Pediatric allergy and immunology, 2002-10, Vol.13 (5), p.381-384

2002

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Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients

European journal of haematology, 2001-08, Vol.67 (2), p.105-109

2001

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Glucose-6-Phosphate Dehydrogenase (G-6-PD) Hamburg, a New Variant with Chronic Nonspherocytic Haemolytic Anaemia

European journal of clinical investigation, 1974-06, Vol.4 (3), p.187-191

1974

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Electroconvulsive Therapy and Posttraumatic Stress Disorder: First Experience With Conversation-Based Reactivation of Traumatic Memory Contents and Subsequent ECT-Mediated Impairment of Reconsolidation

The journal of neuropsychiatry and clinical neurosciences, 2014, Vol.26 (3), p.E38-E39

2014

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Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p

Rapid and sustained remission of systemic juvenile idiopathic arthritis-associated macrophage activation syndrome through treatment with anakinra and corticosteroids

Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany

Cultural bias in the AAP's 2012 Technical Report and Policy Statement on male circumcision

Presentations and Treatment of Childhood Scleroderma: Localized Scleroderma, Eosinophilic Fasciitis, Systemic Sclerosis, and Graft-Versus-Host Disease

Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95ΔTM), is the basis for ALPS Ia in a family with duplicated 3′ splice site AG in CD95 intron 5 on one allele

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD)

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY)

Two German CINCA (NOMID) patients with different clinical severity and response to anti‐inflammatory treatment

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients - expanding phenotype of CIAS1 related autoinflammatory syndrome

Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD)

Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin’s disease

Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease

Immunodeficiency with recurrent panlymphocytopenia, impaired maturation of B lymphocytes, impaired interaction of T and B lymphocytes, and impaired integrity of epithelial tissue: A variant of idiopathic CD4+ T lymphocytopenia?

Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients

Glucose-6-Phosphate Dehydrogenase (G-6-PD) Hamburg, a New Variant with Chronic Nonspherocytic Haemolytic Anaemia

Electroconvulsive Therapy and Posttraumatic Stress Disorder: First Experience With Conversation-Based Reactivation of Traumatic Memory Contents and Subsequent ECT-Mediated Impairment of Reconsolidation

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