Eberhard Schwinger focuses on Genetics, Gene, Locus, Point mutation and Mutation. Eberhard Schwinger focuses mostly in the field of Genetics, narrowing it down to topics relating to Parkin and, in certain cases, Gene dosage. His Locus research is multidisciplinary, incorporating elements of Allele frequency, CDKL5, Genetic linkage, X chromosome and Candidate gene.
His Genetic linkage study incorporates themes from Genetic marker, Microsatellite and Immunology. His research integrates issues of Molecular biology and Retinitis pigmentosa in his study of Point mutation. The concepts of his Mutation study are interwoven with issues in SLC45A2, Oculocutaneous albinism type 4, Hypopigmentation and Albinism, Oculocutaneous albinism.
His primary areas of study are Genetics, Gene, Molecular biology, Mutation and Locus. His study in Allele, Genotype, Exon, Genetic linkage and Point mutation are all subfields of Genetics. His studies in Allele integrate themes in fields like Ataxia and Spinocerebellar ataxia.
The various areas that Eberhard Schwinger examines in his Genetic linkage study include Genetic marker, Microsatellite and Immunology. His research in Molecular biology tackles topics such as Chromosome which are related to areas like Chromosomal translocation. As part of his studies on Locus, Eberhard Schwinger frequently links adjacent subjects like Gene mapping.
His scientific interests lie mostly in Genetics, Gene, Prenatal diagnosis, Allele and Genetic linkage. His Genetic testing, Genotype, Locus, Exon and Missense mutation investigations are all subjects of Genetics research. His study in Gene is interdisciplinary in nature, drawing from both DiGeorge syndrome, Cancer research and Disease.
His Prenatal diagnosis research is multidisciplinary, incorporating perspectives in Pathology, Karyotype and Obstetrics. The study incorporates disciplines such as Genetic marker, Molecular biology, Löfgren syndrome and Preimplantation genetic diagnosis in addition to Allele. His Genetic linkage study combines topics in areas such as Family aggregation, Microsatellite and Haplotype.
Genetics, Allele, Locus, Genetic linkage and Missense mutation are his primary areas of study. His biological study spans a wide range of topics, including Disease and Pathology. Eberhard Schwinger has researched Allele in several fields, including Systemic disease and Immunology.
His research in Locus intersects with topics in Family aggregation, Complete linkage, Gene mutation, Genetic marker and Microsatellite. His Genetic linkage study integrates concerns from other disciplines, such as Neurological disorder, Neuroscience, Mutation and Haplotype. His work carried out in the field of Missense mutation brings together such families of science as Frameshift mutation, Mutation testing, Spinocerebellar ataxia and Trinucleotide repeat expansion.
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Sarcoidosis is associated with a truncating splice site mutation in BTNL2.
Ruta Valentonyte;Jochen Hampe;Klaus Huse;Philip Rosenstiel.
Nature Genetics (2005)
An international two-stage genome-wide search for schizophrenia susceptibility genes.
H.W. Moises;L. Yang;H. Kristbjarnarson;C. Wiese.
Nature Genetics (1995)
Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation
Jiong Tao;Hilde Van Esch;M. Hagedorn-Greiwe;Kirsten Hoffmann.
American Journal of Human Genetics (2004)
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
Vera M. Kalscheuer;Jiong Tao;Andrew Donnelly;Georgina Hollway.
American Journal of Human Genetics (2003)
Distribution, type, and origin of Parkin mutations: Review and case studies
Katja Hedrich;Cordula Eskelson;Beth Wilmot;Karen Marder.
Movement Disorders (2004)
Heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness
Andreas Gal;Ulrike Orth;Wolfgang Baehr;Eberhard Schwinger.
Nature Genetics (1994)
Over-expression of wild-type Rad51 correlates with histological grading of invasive ductal breast cancer.
Heiko Maacke;Sven Opitz;Kirsten Jost;Willem Hamdorf.
International Journal of Cancer (2000)
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
K. Hedrich;A. Djarmati;N. Schäfer;R. Hering.
Eye tracking dysfunction is a putative phenotypic susceptibility marker of schizophrenia and maps to a locus on chromosome 6p in families with multiple occurrence of the disease
Volker Arolt;Rebekka Lencer;Achim Nolte;Bertram Müller-Myhsok.
American Journal of Medical Genetics (1996)
Results from a Genome-wide Search for Predisposing Genes in Sarcoidosis
Manfred Schürmann;Philipp Reichel;Bertram Müller-Myhsok;Max Schlaak.
American Journal of Respiratory and Critical Care Medicine (2001)
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