Search Results - "SCHWINGER, Eberhard"

Clinical utility gene card for: Angelman Syndrome by Buiting, Karin, Clayton-Smith, Jill, Driscoll, Daniel J, Gillessen-Kaesbach, Gabriele, Kanber, Deniz, Schwinger, Eberhard, Williams, Charles, Horsthemke, Bernhard

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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation by Kalscheuer, Vera M., Tao, Jiong, Donnelly, Andrew, Hollway, Georgina, Schwinger, Eberhard, Kübart, Sabine, Menzel, Corinna, Hoeltzenbein, Maria, Tommerup, Niels, Eyre, Helen, Harbord, Michael, Haan, Eric, Sutherland, Grant R., Ropers, Hans-Hilger, Gécz, Jozef

“…X-linked West syndrome, also called “X-linked infantile spasms” (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental…”
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Distribution, type, and origin of Parkin mutations: Review and case studies by Hedrich, Katja, Eskelson, Cordula, Wilmot, Beth, Marder, Karen, Harris, Juliette, Garrels, Jennifer, Meija-Santana, Helen, Vieregge, Peter, Jacobs, Helfried, Bressman, Susan B., Lang, Anthony E., Kann, Martin, Abbruzzese, Giovanni, Martinelli, Paolo, Schwinger, Eberhard, Ozelius, Laurie J., Pramstaller, Peter P., Klein, Christine, Kramer, Patricia

“…Early‐onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin…”
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Results from a Genome-wide Search for Predisposing Genes in Sarcoidosis by SCHURMANN, MANFRED, REICHEL, PHILIPP, MULLER-MYHSOK, BERTRAM, SCHLAAK, MAX, MULLER-QUERNHEIM, JOACHIM, SCHWINGER, EBERHARD

“…Sarcoidosis is a systemic disease of granulomatous inflammation and unknown etiology. An inherited predisposition is involved, and many candidate…”
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Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 by Rundshagen, Uta, Zühlke, Christine, Opitz, Sven, Schwinger, Eberhard, Käsmann-Kellner, Barbara

“…Oculocutaneous albinism (OCA) is caused by a deficiency of melanin synthesis and characterized by generalized hypopigmentation of skin, hair, and eyes. Due to…”
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Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes by Zühlke, Christine, Dalski, Andreas, Schwinger, Eberhard, Finckh, Ulrich

“…Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat…”
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Co-occurrence of restless legs syndrome and Parkin mutations in two families by Adel, Susanna, Djarmati, Ana, Kabakci, Kemal, Pichler, Irene, Eskelson, Cordula, Lohnau, Thora, Kock, Norman, Hagenah, Johann, Hedrich, Katja, Schwinger, Eberhard, Kramer, Patricia L., Pramstaller, Peter P., Klein, Christine

“…Recent studies have suggested an association between restless legs syndrome (RLS) and Parkinson's disease (PD). We present a large multigenerational family and…”
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Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? by Hedrich, Katja, Pramstaller, Peter P., Stübke, Katrin, Hiller, Anja, Kabakci, Kemal, Purmann, Sabine, Kasten, Meike, Scaglione, Cesa, Schwinger, Eberhard, Volkmann, Jens, Kostic, Vladimir, Vieregge, Peter, Martinelli, Paolo, Abbruzzese, Giovanni, Klein, Christine, Zühlke, Christine

“…Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673…”
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Aprataxin mutations are a rare cause of early onset ataxia in Germany by HABECK, Matthias, ZÜHLKE, Christine, BENTELE, Karl H. P, UNKELBACH, Stephan, KRESS, Wolfram, BÜRK, Katrin, SCHWINGER, Eberhard, HELLENBROICH, Yorck

“…Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems…”
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A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosomes through PCR-PRINS by Harrer, Thomas, Schwinger, Eberhard, Mennicke, Kirsten

“…Since the introduction of PRimed IN Situ labeling (PRINS) as a rapid and extremely sensitive alternative method to conventional fluorescence in situ…”
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Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism by Kock, Norman, Müller, Birgitt, Vieregge, Peter, Pramstaller, Peter P., Marder, Karen, Abbruzzese, Giovanni, Martinelli, Paolo, Lang, Anthony E., Jacobs, Helfried, Hagenah, Johann, Harris, Juliette, Meija-Santana, Helen, Fahn, Stanley, Hedrich, Katja, Kann, Martin, Gehlken, Ulrike, Culjkovic, Biljana, Schwinger, Eberhard, Wszolek, Zbigniew K., Zühlke, Christine, Klein, Christine

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Nachruf Gebhard Flatz (1925–2019) by Fonatsch, Christa, Miller, Konstantin, Schwinger, Eberhard

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Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes by Kutsche, Kerstin, Ressler, Bernadette, Katzera, Heide-Gertrude, Orth, Ulrike, Gillessen-Kaesbach, Gabriele, Morlot, Susanne, Schwinger, Eberhard, Gal, Andreas

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Clinical utility gene card for: Prader-Willi Syndrome by Buiting, Karin, Cassidy, Suzanne B, Driscoll, Daniel J, Gillessen-Kaesbach, Gabriele, Kanber, Deniz, Tauber, Maithé, Schwinger, Eberhard, Horsthemke, Bernhard

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Sarcoidosis is associated with a truncating splice site mutation in BTNL2 by Hampe, Jochen, Valentonyte, Ruta, Huse, Klaus, Rosenstiel, Philip, Albrecht, Mario, Stenzel, Annette, Nagy, Marion, Gaede, Karoline I, Franke, Andre, Haesler, Robert, Koch, Andreas, Lengauer, Thomas, Seegert, Dirk, Reiling, Norbert, Ehlers, Stefan, Schwinger, Eberhard, Platzer, Matthias, Krawczak, Michael, Müller-Quernheim, Joachim, Schürmann, Manfred, Schreiber, Stefan

“…Sarcoidosis is a polygenic immune disorder with predominant manifestation in the lung. Genome-wide linkage analysis previously indicated that the extended…”
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Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 ( CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation by Tao, Jiong, Van Esch, Hilde, Hagedorn-Greiwe, M., Hoffmann, Kirsten, Moser, Bettina, Raynaud, Martine, Sperner, Jürgen, Fryns, Jean-Pierre, Schwinger, Eberhard, Gécz, Jozef, Ropers, Hans-Hilger, Kalscheuer, Vera M.

“…Recently, we showed that truncation of the X-linked cyclin-dependent kinase–like 5 ( CDKL5/STK9) gene caused mental retardation and severe neurological…”
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Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human by Tierling, Sascha, Souren, Nicole Y, Gries, Jasmin, Loporto, Christina, Groth, Marco, Lutsik, Pavlo, Neitzel, Heidemarie, Utz-Billing, Isabelle, Gillessen-Kaesbach, Gabriele, Kentenich, Heribert, Griesinger, Georg, Sperling, Karl, Schwinger, Eberhard, Walter, Jörn

“…BACKGROUND Assisted reproductive technologies (ART) such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI) are believed to…”
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Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia by Lohmann, Katja, Redin, Claire, Tönnies, Holger, Bressman, Susan B, Subero, Jose Ignacio Martin, Wiegers, Karin, Hinrichs, Frauke, Hellenbroich, Yorck, Rakovic, Aleksandar, Raymond, Deborah, Ozelius, Laurie J, Schwinger, Eberhard, Siebert, Reiner, Talkowski, Michael E, Saunders-Pullman, Rachel, Klein, Christine

“…Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the…”
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Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, ) by Schwinger, Eberhard, Devriendt, Koen, Rauch, Anita, Philip, Nicole

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Exome sequencing in a family with restless legs syndrome by Weissbach, Anne, Siegesmund, Katharina, Brüggemann, Norbert, Schmidt, Alexander, Kasten, Meike, Pichler, Irene, Muhle, Hiltrud, Lohmann, Ebba, Lohnau, Thora, Schwinger, Eberhard, Hagenah, Johann, Stephani, Ulrich, Pramstaller, Peter P., Klein, Christine, Lohmann, Katja

“…Background: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative…”
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