Autor: "Rieß, Angelika" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Autorzy:: Pringsheim M; Klinik für Neuropädiatrie und Neurologische Rehabilitation Epilepsiezentrum für Kinder und Jugendliche Schön Klinik Vogtareuth Vogtareuth Germany.; Research Institute 'Rehabilitation, Transition, Rehabilitation' Paracelsus Medical University Salzburg Austria.
Mitter D; Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany.
Schröder S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders University Medical Center Göttingen Göttingen Germany.
Warthemann R; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders University Medical Center Göttingen Göttingen Germany.
Plümacher K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders University Medical Center Göttingen Göttingen Germany.
Kluger G; Klinik für Neuropädiatrie und Neurologische Rehabilitation Epilepsiezentrum für Kinder und Jugendliche Schön Klinik Vogtareuth Vogtareuth Germany.; Research Institute 'Rehabilitation, Transition, Rehabilitation' Paracelsus Medical University Salzburg Austria.
Baethmann M; Sozialpädiatrisches Zentrum Klinikum Dritter Orden München Germany.
Bast T; Epilepsiezentrum Kork Kehl-Kork Germany.; Medical Faculty University of Freiburg Freiburg Germany.
Braun S; Asklepios Children's Hospital St. Augustin Germany.
Büttel HM; Sozialpädiatrisches Zentrum SLK-Kliniken Heilbronn Heilbronn Germany.
Conover E; Department of Genetic Medicine Munroe Meyer Institute University of Nebraska Medical Center Omaha Omaha Nebraska USA.
Courage C; Division of Human Genetics Department of Pediatrics, Inselspital University of Bern Bern Switzerland.; The Folkhälsan Institute of Genetics University of Helsinki Helsinki Finland.
Datta AN; Department of Pediatric Neurology and Developmental Medicine University of Basel Children's Hospital Basel Switzerland.
Eger A; Sozialpädiatrisches Zentrum Leipzig (Frühe Hilfe Leipzig) Leipzig Germany.
Grebe TA; Division of Genetics and Metabolism Phoenix Children's Hospital Phoenix Arizona USA.
Hasse-Wittmer A; Klinikum Traunstein Traunstein Germany.
Heruth M; Klinik für Kinder- und Jugendmedizin Sana Kliniken Leipziger Land Borna Germany.
Höft K; Klinik für Kinder- und Jugendmedizin Klinikum Magdeburg gGmbH Magdeburg Germany.
Kaindl AM; Klinik für Pädiatrie m.S. Neurologie Sozialpädiatrisches Zentrum Institut für Zell- und Neurobiologie Charité-Universitätsmedizin Berlin Berlin Germany.
Karch S; Klinik für Kinder- und Jugendmedizin Sozialpädiatrisches Zentrum Universitätsklinikum Heidelberg Heidelberg Germany.
Kautzky T; Klinikum Leer Leer Germany.
Korenke GC; Klinik für Neuropädiatrie und angeborene Stoffwechselerkrankungen Elisabeth Kinderkrankenhaus Klinikum Oldenburg Germany.
Kruse B; Neuropediatric Department Helios-Klinikum Hildesheim Hildesheim Germany.
Lutz RE; Department of Genetic Medicine Munroe Meyer Institute University of Nebraska Medical Center Omaha Omaha Nebraska USA.
Omran H; Department of General Pediatrics University Children's Hospital Muenster Muenster Germany.
Patzer S; Klinik für Kinder- und Jugendmedizin Krankenhaus St. Elisabeth und St. Barbara Halle/Saale Germany.
Philippi H; Sozialpädiatrisches Zentrum Frankfurt Mitte Frankfurt am Main Germany.
Ramsey K; Center for Rare Childhood Disorders Translational Genomics Research Institute Phoenix Arizona USA.
Rating T; Sozialpädiatrisches Institut Klinikum Bremen-Mitte Bremen Germany.
Rieß A; Institut für Medizinische Genetik und angewandte Genomik Universitätsklinikum Tübingen Tübingen Germany.
Schimmel M; Children's Hospital Section of Neuropaediatrics Klinikum Augsburg Augsburg Germany.
Westman R; Children's Specialty Center St. Luke's Children's Hospital Boise Idaho USA.
Zech FM; Klinik für Kinder- und Jugendmedizin St. Vincenz-Krankenhaus Paderborn Paderborn Germany.
Zirn B; Genetic Counselling and Diagnostic, genetikum Stuttgart Stuttgart Germany.
Ulmke PA; Institute of Neuroanatomy University Medical Center Georg August University Göttingen Germany.
Sokpor G; Institute of Neuroanatomy University Medical Center Georg August University Göttingen Germany.
Tuoc T; Institute of Neuroanatomy University Medical Center Georg August University Göttingen Germany.
Leha A; 'Core Facility Medical Biometry and Statistical Bioinformatics' Department of Medical Statistics University Medical Center Göttingen Göttingen Germany.
Staudt M; Klinik für Neuropädiatrie und Neurologische Rehabilitation Epilepsiezentrum für Kinder und Jugendliche Schön Klinik Vogtareuth Vogtareuth Germany.
Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders University Medical Center Göttingen Göttingen Germany.; Pokaż więcej
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Mar 03; Vol. 6 (4), pp. 655-668. Date of Electronic Publication: 2019 Mar 03 (Print Publication: 2019).
Typ publikacji:: Journal Article
MeSH Terms:: Brain/*abnormalities
Brain/*pathology
Forkhead Transcription Factors/*genetics
Nerve Tissue Proteins/*genetics
Animals ; Child Development Disorders, Pervasive/genetics ; Child Development Disorders, Pervasive/pathology ; Female ; Genotype ; Humans ; Intellectual Disability/genetics ; Mice, Transgenic ; Microcephaly/genetics ; Phenotype ; Rett Syndrome/genetics

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Skocz do pozycji: 2.

Tytuł:: Next-generation sequencing in X-linked intellectual disability.
Autorzy:: Tzschach A; Institute of Clinical Genetics, Technische Universität Dresden, Dresden, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Beck-Woedl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Dufke C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Bauer C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Kehrer M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Evers C; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Moog U; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Oehl-Jaschkowitz B; Practice of Human Genetics, Homburg (Saar), Germany.
Di Donato N; Institute of Clinical Genetics, Technische Universität Dresden, Dresden, Germany.
Maiwald R; Medical Care Center, Mönchengladbach, Germany.
Jung C; Centre of Human Genetics, Mannheim, Germany.
Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany.
Schulz S; Center of Human Genetics, Jena University Hospital, Jena, Germany.
Meinecke P; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
Spranger S; Practice of Human Genetics, Bremen, Germany.
Kohlhase J; Centre for Human Genetics, Freiburg, Germany.
Seidel J; Practice of Pediatrics, Jena, Germany.
Reif S; Practice of Medical Genetics, Dresden, Germany.
Rieger M; Practice of Medical Genetics, Dresden, Germany.
Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Bickmann J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Schroeder C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Bauer P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Pokaż więcej
Źródło:: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Nov; Vol. 23 (11), pp. 1513-8. Date of Electronic Publication: 2015 Feb 04.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genes, X-Linked*
High-Throughput Nucleotide Sequencing*
Epilepsy/*genetics
Intellectual Disability/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Epilepsy/physiopathology ; Female ; Gene Dosage ; Humans ; Intellectual Disability/physiopathology ; Male ; Mutation ; X Chromosome Inactivation/genetics

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Skocz do pozycji: 3.

Tytuł:: Genome-wide UPD screening in patients with intellectual disability.
Autorzy:: Schroeder C; 1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.
Ekici AB; Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.
Moog U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Grasshoff U; 1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.
Mau-Holzmann U; 1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.
Sturm M; 1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.
Vosseler V; 1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.
Poths S; 1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.
Rappold G; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Riess A; Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.
Riess O; 1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.
Dufke A; 1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.
Bonin M; 1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.; Pokaż więcej
Źródło:: European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Oct; Vol. 22 (10), pp. 1233-5. Date of Electronic Publication: 2014 May 07.
Typ publikacji:: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:: Genome-Wide Association Study*
Intellectual Disability/*genetics
Uniparental Disomy/*genetics
Child ; Chromosomes, Human, Pair 7/genetics ; DNA Copy Number Variations ; Genetic Testing ; Genome, Human ; Genomic Imprinting ; Homozygote ; Humans ; Parents ; Polymorphism, Single Nucleotide ; Retrospective Studies