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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E 2014
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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability Beckmann, J. S.; Estivill, Xavier; Antonarakis, Stylianos 2007
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Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies van Leeuwen, F W; van Tijn, P; Sonnemans, M A F; Hobo, B; ... Fischer, D F 2006
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Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala 2006
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Beta-cell-targeted expression of a dominant-negative mutant of hepatocyte nuclear factor-1alpha in mice: diabetes model with beta-cell dysfunction partially rescued by nonglucose secretagogues Winzell, Maria Sörhede; Pacini, Giovanni; Wollheim, Claes; Ahrén, Bo 2004
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The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus Boda, Bernadett; Alberi, Stefano; Nikonenko, Irina; Nodé-Langlois, Roxanne; ... Muller, Dominique 2004
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Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy Le Fort, D.; Safran, Avinoam B.; Picard, Fabienne; Bouchardy, I.; Morris, M.A. 2004
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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis 2003
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Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse Izumi, Tetsuro; Yokota-Hashimoto, Hiromi; Zhao, Shengli; Wang, Jie; ... Takeuchi, Toshiyuki 2003
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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele 2002
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How mutations in the nAChRs can cause ADNFLE epilepsy Bertrand, Daniel; Picard, Fabienne; Le Hellard, Stéphanie; Weiland, Sigrid; ... Mulley, J 2002
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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos 2001
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Beta-cell-targeted expression of a dominant-negative hepatocyte nuclear factor-1 alpha induces a maturity-onset diabetes of the young (MODY)3-like phenotype in transgenic mice Hagenfeldt-Johansson, K. A.; Herrera, Pedro Luis; Wang, Haiyan; Gjinovci, A.; ... Wollheim, Claes 2001
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Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease Kovari, Eniko Veronika; Leuba, G; Savioz, Armand; Saini, Krishan; ... Bouras, Constantin 2000
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Dominant partial epilepsies: A clinical, electrophysiological and genetic study of 19 European families Picard, Fabienne; Baulac, S; Kahane, P; Hirsch, E; ... LeGuern, E 2000
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Control of separate pathogenic autoantibody responses marks MHC gene contributions to murine lupus Vyse, T. J.; Halterman, R. K.; Rozzo, S. J.; Izui, Shozo; Kotzin, B. L. 1999
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L'épilepsie frontale nocturne autosomique dominante: le syndrome Picard, Fabienne; Chauvel, P 1999
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Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic beta-cell line Wang, Haiyan; Maechler, Pierre; Hagenfeldt-Johansson, Kerstin Arlette; Wollheim, Claes 1998
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Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 Blouin, Jean-Louis; Dombroski, B. A.; Nath, S. K.; Lasseter, V. K.; ... Pulver, A. E. 1998
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