Search Results - "FINCKH, Ulrich"

Similar Results in Human Geneticists' Practices by Finckh, Ulrich

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Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy by Kumaramanickavel, Govindasamy, Rathmann, Michaela, Denton, Michael J, Srikumari, C.R. Srisailapathy, Gu, Su-min, Thompson, Debra A, Lorenz, Birgit, Finckh, Ulrich, Murthy, K.R, Gal, Andreas, Nicoletti, Aileen

“…Autosomal recessive childhood-onset severe retinal dystrophy (arCSRD) designates a heterogeneous group of disorders affecting rod and cone photoreceptors…”
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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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Plexin B3 promotes neurite outgrowth, interacts homophilically, and interacts with Rin by Hartwig, Christine, Veske, Andres, Krejcova, Sarka, Rosenberger, Georg, Finckh, Ulrich

“…Plexins, known to date as receptors of semaphorins, are implicated in semaphorin-mediated axon repulsion and growth cone collapse. However, subtype-specific…”
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Novel mutations and repeated findings of mutations in familial Alzheimer disease by FINCKH, Ulrich, KUSCHEL, Christian, GAL, Andreas, ANAGNOSTOULI, Maria, PATSOURIS, Efstratios, PANTES, George V, GATZONIS, Stylianos, KAPAKI, Elisabeth, DAVAKI, Panagiota, LAMSZUS, Katrin, STAVROU, Dimitrios

“…Twenty-one unrelated patients with a history of suspected familial Alzheimer disease (FAD) were screened for mutations in PSEN1, PSEN2, and APP, the known FAD…”
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Alzheimer disease-associated cystatin C variant undergoes impaired secretion by Benussi, Luisa, Ghidoni, Roberta, Steinhoff, Tiana, Alberici, Antonella, Villa, Aldo, Mazzoli, Federica, Nicosia, Francesca, Barbiero, Laura, Broglio, Laura, Feudatari, Enrica, Signorini, Simona, Finckh, Ulrich, Nitsch, Roger M., Binetti, Giuliano

“…CST3 is the coding gene for cystatin C (CysC). CST3 B/B homozygosity is associated with an increased risk of developing Alzheimer disease. We performed CysC…”
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Correspondence by Finckh, Ulrich

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S2-01-05: Future of association studies in common AD by Finckh, Ulrich

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Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers by Kaden, Daniela, Harmeier, Anja, Weise, Christoph, Munter, Lisa M., Althoff, Veit, Rost, Benjamin R., Hildebrand, Peter W., Schmitz, Dietmar, Schaefer, Michael, Lurz, Rudi, Skodda, Sabine, Yamamoto, Raina, Arlt, Sönke, Finckh, Ulrich, Multhaup, Gerd

“…Here, we describe a novel missense mutation in the amyloid precursor protein (APP) causing a lysine‐to‐asparagine substitution at position 687 (APP770; herein,…”
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Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study by Klostermeier, Ulrich C, Limperger, Verena, Kenet, Gili, Kurnik, Karin, Alhenc Gelas, Martine, Finckh, Ulrich, Junker, Ralf, Heller, Christine, Zieger, Barbara, Knöfler, Ralf, Holzhauer, Susanne, Mesters, Rolf, Krümpel, Anne, Nowak-Göttl, Ulrike

“…Venous thromboembolism [TE] is a multifactorial disease, and protein S deficiency [PSD] constitutes a major risk factor. In the present study the prevalence of…”
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Clinical and laboratory characteristics of children with venous thromboembolism and protein C‐deficiency: an observational Israeli‐German cohort study by Limperger, Verena, Klostermeier, Ulrich C., Kenet, Gili, Holzhauer, Susanne, Alhenc Gelas, Martine, Finckh, Ulrich, Junker, Ralf, Heller, Christine, Zieger, Barbara, Kurnik, Karin, Knöfler, Ralf, Mesters, Rolf, Halimeh, Susan, Nowak‐Göttl, Ulrike

“…Summary Venous thromboembolism [TE] is a multifactorial disease and protein C deficiency [PCD] constitutes a major risk factor. In the present study the…”
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Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex by Stahl, Sonja, Gaetzner, Sabine, Voss, Katrin, Brackertz, Bettina, Schleider, Elisa, Sürücü, Oguzkan, Kunze, Ekkehard, Netzer, Christian, Korenke, Christoph, Finckh, Ulrich, Habek, Mario, Poljakovic, Zdravka, Elbracht, Miriam, Rudnik-Schöneborn, Sabine, Bertalanffy, Helmut, Sure, Ulrich, Felbor, Ute

“…Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a…”
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A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease by Luedecke, Daniel, Becktepe, Jos S., Lehmbeck, Jan T., Finckh, Ulrich, Yamamoto, Raina, Jahn, Holger, Boelmans, Kai

“…•We found a novel PSEN1 Ala275Val mutation in a patient with early-onset dementia.•Neuropsychological examination, CSF and imaging biomarkers were indicative…”
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Association of the dopamine D2 receptor gene with alcohol dependence: haplotypes and subgroups of alcoholics as key factors for understanding receptor function by Kraschewski, Adrian, Reese, Jörn, Anghelescu, Ion, Winterer, Georg, Schmidt, Lutz G, Gallinat, Jürgen, Finckh, Ulrich, Rommelspacher, Hans, Wernicke, Catrin

“…OBJECTIVESThe dopamine D2 receptor (DRD2) plays an important role in the reinforcing and motivating effects of ethanol. Several polymorphisms have been…”
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Impact of high risk thrombophilia status on recurrence among children and adults with VTE: An observational multicenter cohort study by Brüwer, Gloria, Limperger, Verena, Kenet, Gili, Klostermeier, Ulrich C., Shneyder, Maria, Degenhardt, Frauke, Finckh, Ulrich, Heller, Christine, Holzhauer, Susanne, Trappe, Ralf, Kentouche, Karim, Knoefler, Ralf, Kurnik, Karin, Krümpel, Anne, Lauten, Melchior, Manner, Daniela, Mesters, Rolf, Junker, Ralf, Nowak-Göttl, Ulrike

“…Antithrombin [AT]-, protein C [PC]- or protein S [PS]-deficiency [D] constitutes a major risk factor for venous thromboembolism [VTE]. Primary study objective…”
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Chronic ethanol exposure changes dopamine D2 receptor splicing during retinoic acid-induced differentiation of human SH-SY5Y cells by Wernicke, Catrin, Hellmann, Julian, Finckh, Ulrich, Rommelspacher, Hans

“…There is evidence for ethanol-induced impairment of the dopaminergic system in the brain during development. The dopamine D2 receptor (DRD2) and the dopamine…”
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Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis by Pekkala, Satu, Martínez, Ana I, Barcelona, Belén, Yefimenko, Igor, Finckh, Ulrich, Rubio, Vicente, Cervera, Javier

“…Carbamoyl-phosphate synthetase I (CPS1) deficiency (CPS1D), a recessively inherited urea cycle error due to CPS1 gene mutations, causes life-threatening…”
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Prenatal molecular diagnosis of L1-spectrum disorders by Finckh, Ulrich, Gal, Andreas

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A rare ancestral HLA-DRB115:01첃 DQB102:01 haplotype and its reversion in the same Western European family by Binder, Thomas MC, Kelsch, Reinhard, Wikner, Julia M, Aly, Lilian, Brendel, Cornelia, Alster, Ina, Kuehnl, Peter, Finckh, Ulrich, Eiermann, Thomas H

“…The HLA-DR and -DQ loci are close neighbors on chromosome 6 that are highly linked. Many common associations between HLA-DR and DQ-alleles are known, normally…”
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A rare ancestral HLA-DRB1∗ 15:01̃DQB1∗ 02:01 haplotype and its reversion in the same Western European family by Binder, Thomas M.C, Kelsch, Reinhard, Wikner, Julia M, Aly, Lilian, Brendel, Cornelia, Alster, Ina, Kühnl, Peter, Finckh, Ulrich, Eiermann, Thomas H

“…Abstract The HLA-DR and -DQ loci are close neighbors on chromosome 6 that are highly linked. Many common associations between HLA-DR and DQ-alleles are known,…”
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