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1. Full Text Zur Genetik der chronisch-obstruktiven Lungenerkrankung
by Arinir, U and Hoffjan, S and Knoop, H and Schultze-Werninghaus, G and Epplen, J. T and Rohde, G
Pneumologie, ISSN 0934-8387, 01/2009, Volume 63, Issue 1, pp. 41 - 48
Zusammenfassung Die COPD ist eine multifaktorielle Erkrankung, bei der sowohl Umweltfaktoren als auch die genetische Prädisposition eine wichtige Rolle... 
Übersicht
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2. Full Text Dissecting the genetic background of multifactorial diseases and traits – A major challenge for genetic research
by Hoffjan, Sabine
Molecular and Cellular Probes, ISSN 0890-8508, 12/2016, Volume 30, Issue 6, pp. 345 - 345
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | CELL BIOLOGY | Disease - classification | Genetic Predisposition to Disease - genetics | Disease - genetics | Humans | Human Genetics - methods | Biomedical Research - methods | Genome-Wide Association Study - methods | Multifactorial Inheritance | Medicine, Experimental | Genetic research | Medical research
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3. Full Text Asthma genetics 2006: the long and winding road to gene discovery
by Ober, C and Hoffjan, S
Genes and Immunity, ISSN 1466-4879, 03/2006, Volume 7, Issue 2, pp. 95 - 100
Asthma and atopy are complex phenotypes that are influenced by both genetic and environmental factors. A review of nearly 500 papers on disease association... 
Genetics | Genome-wide | Association | Linkage | Asthma | Atopy | ENVIRONMENT INTERACTION | PROJECT | POSITIONAL CLONING | atopy | association | RISK | asthma | linkage | IMMUNOLOGY | HLA-G | SUSCEPTIBILITY GENES | genetics | genome-wide | POLYMORPHISMS | DISEASES | GENETICS & HEREDITY | GENOME-WIDE ASSOCIATION | IMMUNOGLOBULIN-E | Genetic Predisposition to Disease | Review Literature as Topic | Humans | Genome, Human | Forecasting | Asthma - genetics | Genetic Linkage | Care and treatment | Genes | Physiological aspects | Genetic aspects | Research | Gene expression | Health aspects | Identification and classification
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4. Full Text Next generation sequencing technologies for rare Mendelian disorders: striking potential and ongoing challenges
by Hoffjan, Sabine
Molecular and Cellular Probes, ISSN 0890-8508, 10/2015, Volume 29, Issue 5, pp. 259 - 259
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | CELL BIOLOGY | Rare Diseases - genetics | Genetic Testing | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | Humans
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5. Full Text SI: Next-generation sequencing in human molecular genetic diagnostics
by Hoffjan, Sabine
Molecular and Cellular Probes, ISSN 0890-8508, 06/2019, Volume 45, pp. 69 - 69
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | CELL BIOLOGY
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6. Full Text On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis
by Hoffjan, S and Stemmler, S
British Journal of Dermatology, ISSN 0007-0963, 09/2007, Volume 157, Issue 3, pp. 441 - 449
Summary Undisturbed epidermal differentiation is crucial for an intact skin barrier function. The epidermal differentiation complex (EDC) is a cluster of genes... 
atopic dermatitis | epidermal differentiation complex | ichthyosis | psoriasis | Epidermal differentiation complex | Psoriasis | Atopic dermatitis | Ichthyosis | HUMAN-CHROMOSOME 1Q21 | BARRIER FUNCTION | FLAKY TAIL | SUSCEPTIBILITY LOCI | OF-FUNCTION MUTATIONS | FUNCTION VARIANTS | PROLINE-RICH PROTEINS | CORNIFIED ENVELOPE | DERMATOLOGY | FILAGGRIN GENE PREDISPOSE | GRANULAR LAYER | Dermatitis, Atopic - genetics | Genetic Predisposition to Disease - genetics | Psoriasis - genetics | Pedigree | Humans | Intermediate Filament Proteins - genetics | Female | Male | Chromosomes, Human, Pair 1 - genetics | Ichthyosis Vulgaris - genetics | Mutation - genetics | Genetic Linkage
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7. Full Text Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012
by Hoffjan, S
Molecular Syndromology, ISSN 1661-8769, 08/2012, Volume 3, Issue 2, pp. 47 - 58
Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue characterized by early development of thoracic aortic aneurysms/dissections... 
Review Article | Connective tissue disorders | Loeys-Dietz syndrome | Ehlers-Danlos syndrome | Marfan syndrome | Review
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8. Full Text Management Control in Public-Private Partnerships : Between International Governmental Actors and the Private Sector
by Konrad, Thomas S
07/2018, Schriften zu Wirtschaftsprüfung, Steuerlehre und Controlling, ISBN 9783658228675, 462
He builds a sound basis for the identification of a research gap and the derivation of research questions. The results generate sufficient evidence to answer... 
Public administration | Economics | Institutional/Evolutionary Economics | Corporate Social Responsibility | Accounting/Auditing
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9. Full Text Trying to understand the genetics of atopic dermatitis
by Stemmler, Susanne and Hoffjan, Sabine
Molecular and Cellular Probes, ISSN 0890-8508, 12/2016, Volume 30, Issue 6, pp. 374 - 385
Atopic dermatitis (AD) is a common and complex skin disease associated with both genetic and environmental factors. Loss-of-function mutations in the gene,... 
Association | GWAS | Next-generation sequencing | Atopic dermatitis | Eczema | Epigenetics | Filaggrin | OF-FUNCTION VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | EPIDERMAL DIFFERENTIATION COMPLEX | CHINESE HAN POPULATION | MULTIPLE-SCLEROSIS SUSCEPTIBILITY | CELL BIOLOGY | INFLAMMATORY-BOWEL-DISEASE | PSORIASIS SUSCEPTIBILITY LOCI | BREAST-CANCER RISK | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | SERUM IGE LEVELS | SINGLE-NUCLEOTIDE POLYMORPHISMS | GENOME-WIDE ASSOCIATION | Epidermis - metabolism | Dermatitis, Atopic - genetics | Epidermis - pathology | Exome - genetics | Genetic Predisposition to Disease - genetics | Humans | Intermediate Filament Proteins - genetics | Mutation | Genome-Wide Association Study - methods | Sequence Analysis, DNA - methods | Disease susceptibility | Genetic aspects | Skin | Analysis | Genomics
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10. Full Text Association studies for asthma and atopic diseases: A comprehensive review of the literature
by Hoffjan, Sabine and Nicolae, Dan and Ober, Carole
Respiratory Research, ISSN 1465-993X, 12/2003, Volume 4, Issue 14, pp. 14 - 14
Hundreds of genetic association studies on asthma-related phenotypes have been conducted in different populations. To date, variants in 64 genes have been... 
HLA-CLASS-II | TUMOR-NECROSIS-FACTOR | ACTIVATING-FACTOR ACETYLHYDROLASE | RESPIRATORY SYSTEM | IMMUNOGLOBULIN-E RECEPTOR | SERUM IGE LEVELS | RECEPTOR-ALPHA-CHAIN | LEUKOTRIENE C-4 SYNTHASE | ANGIOTENSIN-CONVERTING ENZYME | EPSILON-RI-BETA | SINGLE-NUCLEOTIDE POLYMORPHISMS | Genetic Variation | Hypersensitivity - genetics | Phenotype | Humans | Asthma - genetics | Complications and side effects | Care and treatment | Patient outcomes | Development and progression | Research | Gene expression | Asthma | Review
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11. Full Text The genetics of atopic dermatitis: recent findings and future options
by Hoffjan, Sabine and Epplen, Jörg T
Journal of Molecular Medicine, ISSN 0946-2716, 9/2005, Volume 83, Issue 9, pp. 682 - 692
Atopic dermatitis (AD) is a chronic pruritic skin disease affecting up to 15% of children in industrialized countries. AD belongs to the group of allergic... 
Life Sciences | Multifactorial | Review | Genetic association | Atopic dermatitis | Polymorphism | MEDICINE, RESEARCH & EXPERIMENTAL | IMMUNOGLOBULIN-E LEVELS | genetic association | atopic dermatitis | multifactorial | polymorphism | INTERLEUKIN-4 RECEPTOR | PSORIASIS SUSCEPTIBILITY LOCI | review | MAST-CELL CHYMASE | GENETICS & HEREDITY | SERUM IGE LEVELS | RECEPTOR-ALPHA-CHAIN | SERINE-PROTEASE INHIBITOR | AT-RISK CHILDREN | SINGLE NUCLEOTIDE POLYMORPHISMS | GENOME-WIDE ASSOCIATION | Dermatitis, Atopic - genetics | Genetic Predisposition to Disease | Psoriasis - genetics | Psoriasis - pathology | Humans | Gene Expression Regulation | Dermatitis, Atopic - pathology | Asthma - pathology | Child | Chronic Disease | Asthma - genetics | Genetic aspects
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12. Full Text BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy
by Kropatsch, Regina and Schmidt, Helena M and Buttkereit, Pia and Epplen, Jörg T and Hoffjan, Sabine
Muscle & Nerve, ISSN 0148-639X, 04/2019, Volume 59, Issue 4, pp. 484 - 486
ABSTRACT Introduction: Mutations in the BICD2 gene are causative for an autosomal dominant form of spinal muscular atrophy (SMALED2). Further, BICD2 mutations... 
HMSN | HSP | high‐resolution melting analysis | BICD2 | SMALED2 | high-resolution melting analysis | SPINAL MUSCULAR-ATROPHY | DISEASE | PHENOTYPE | NEUROSCIENCES | CLINICAL NEUROLOGY | INSIGHTS | Paralysis, Spastic | Analysis | Genetic aspects | Hereditary spastic paraplegia | Atrophy | Paraplegia | Phenotypes | Muscles | Motors | Paralysis | Mutation | Neuropathy | Spastic paraplegia | Patients | Spinal muscular atrophy
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13. Full Text Two Common Loss-of-Function Mutations within the Filaggrin Gene Predispose for Early Onset of Atopic Dermatitis
by Stemmler, Susanne and Parwez, Qumar and Petrasch-Parwez, Elisabeth and Epplen, Joerg T and Hoffjan, Sabine
Journal of Investigative Dermatology, ISSN 0022-202X, 03/2007, Volume 127, Issue 3, pp. 722 - 724
CAUSE ICHTHYOSIS VULGARIS | DERMATOLOGY | Dermatitis, Atopic - genetics | Genetic Predisposition to Disease | Humans | Middle Aged | Child, Preschool | Infant | Male | Case-Control Studies | Adolescent | Age of Onset | Intermediate Filament Proteins - genetics | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies
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14. Full Text A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
by Beunders, Gea and van de Kamp, Jiddeke and Vasudevan, Pradeep and Morton, Jenny and Smets, Katrien and Kleefstra, Tjitske and de Munnik, Sonja A and Schuurs-Hoeijmakers, Janneke and Ceulemans, Berten and Zollino, Marcella and Hoffjan, Sabine and Wieczorek, Stefan and So, Joyce and Mercer, Leanne and Walker, Tanya and Velsher, Lea and Parker, Michael J and Magee, Alex C and Elffers, Bart and Kooy, R Frank and Yntema, Helger G and Meijers-Heijboer, Elizabeth J and Sistermans, Erik A and DDD Study and DDD study and the DDD study
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 523 - 532
BackgroundAUTS2 syndrome is an ‘intellectual disability (ID) syndrome’ caused by genomic rearrangements, deletions, intragenic duplications or mutations... 
NEURODEVELOPMENTAL DISORDERS | AUTISM | GENE AUTS2 | TRANSLOCATION BREAKPOINT | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | COPY NUMBER VARIANTS | ASSOCIATION | AUTISM-SUSCEPTIBILITY-CANDIDATE-2 AUTS2 | DELETION | PAIR | Haploinsufficiency - genetics | Microcephaly - genetics | Humans | Middle Aged | Child, Preschool | Genetic Association Studies - methods | Exons - genetics | Infant | Male | Mutation - genetics | Syndrome | Intellectual Disability - genetics | Proteins - genetics | Young Adult | Mental Disorders - genetics | Phenotype | Adult | Female | Child | Sequence Deletion - genetics | Care and treatment | Usage | Gene mutations | Clinical trials | Research | Patients | Health aspects | Mental retardation | Genotype & phenotype | Hospitals | Intellectual disabilities | Families & family life | Alcohol | Adults | Mutation | Gene expression | Microcephaly | Defects
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