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 TitleAuthors / EditorsDate
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Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass Ferrari, Serge Livio; Deutsch, Samuel; Antonarakis, Stylianos 2005
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Pathogenic variants in non-protein-coding sequences Makrythanasis, Periklis; Antonarakis, Stylianos 2013
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Patterns of meiotic recombination on the long arm of human chromosome 21 Lynn, A.; Kashuk, C.; Petersen, M. B.; Bailey, J. A.; ... Chakravarti, A. 2000
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Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening Gagos, Sarantis; Chiourea, Maria; Christodoulidou, Agni; Apostolou, Eftichia; ... Antonarakis, Stylianos 2008
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Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 Bosman, Alexis; Letourneau, Audrey; Sartiani, Laura; Del Lungo, Martina; ... Jaconi, Marisa 2015
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Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling Lin-Marq, Nathalie; Borel, Christelle; Antonarakis, Stylianos 2005
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Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 Mehenni, H.; Blouin, Jean-Louis; Radhakrishna, U.; Bhardwaj, S. S.; ... Antonarakis, Stylianos 1997
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Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites Ferrari, Serge Livio; Deutsch, Samuel; Choudhury, Urmila; Chevalley, Thierry; ... Antonarakis, Stylianos 2004
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Positional cloning of the APECED gene Nagamine, K.; Peterson, P.; Scott, Hamish Steele; Kudoh, J.; ... Shimizu, N. 1997
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Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis Antonarakis, Stylianos 1996
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia 2008
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity Blouin, Jean-Louis; Meeks, M.; Radhakrishna, U.; Sainsbury, A.; ... Antonarakis, Stylianos 2000
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Prise en charge multidisciplinaire du cancer colorectal héréditaire Soravia, Claudio; Delozier-Blanchet, C; Blouin, Jean-Louis; Brundler, M. A.; ... Hutter, Pierre 2001
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Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres Moldrich, R. X.; Dauphinot, Luce; Laffaire, Julien; Vitalis, Tania; ... Potier, M. C. 2009
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Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions Denoeud, France; Kapranov, Philipp; Ucla, Catherine; Frankish, Adam; ... Reymond, Alexandre 2007
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Promoter polymorphisms and allelic imbalance in ABCB1 expression Loeuillet, Corinne; Weale, Michael; Deutsch, Samuel; Rotger, Margalida; ... Telenti, Amalio 2007
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Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution Zheng, Deyou; Frankish, Adam; Baertsch, Robert; Kapranov, Philipp; ... Gerstein, M. B. 2007
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Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives Pulver, A. E.; Nestadt, G.; Goldberg, R.; Shprintzen, R. J.; ... Housman, D. 1994
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Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation Nicastro, Nicolas; Ranza, Emmanuelle Nathalie; Antonarakis, Stylianos; Horvath, Judit 2016
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Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes Popadin, Konstantin; Nikolaev, Sergey Igorievich; Junier, Thomas; Baranova, Maria; Antonarakis, Stylianos 2013
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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice Fokstuen, Siv; Munoz, Analia; Melacini, Paola; Iliceto, Sabino; ... Blouin, Jean-Louis 2011
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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos 2014
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Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group Antonarakis, Stylianos 1998
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Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 Scott, Hamish Steele; Antonarakis, Stylianos; Mittaz, L.; Lalioti, M. D.; ... Gal, A. 2000
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Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. 2000
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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala 2011
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Regulation of fibrinogen production by microRNAs Fort, Alexandre; Borel, Christelle; Migliavacca, Eugenia; Antonarakis, Stylianos; ... Neerman Arbez, Marguerite 2010
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Report of the Fourth International Workshop on Human Chromosome 21 Delabar, J. M.; Creau, N.; Sinet, P. M.; Ritter, O.; ... Patterson, D. 1993
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Report on the 'Expert Workshop on the Biology of Chromosome 21: towards gene-phenotype correlations in Down syndrome', held June 11-14, 2004, Washington D.C. Gardiner, K.; Davisson, M. T.; Pritchard, M.; Patterson, D.; ... Mobley, W. 2005
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Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories 't Hoen, Peter A C; Friedländer, Marc R; Almlöf, Jonas; Sammeth, Michael; ... Lappalainen, Tuuli 2013
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RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse Heino, M.; Peterson, P.; Sillanpaa, N.; Guerin, S.; ... Krohn, K. J. 2000
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Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling Pruitt, W. M.; Karnoub, A. E.; Rakauskas, A. C.; Guipponi, Michel; ... Der, C. J. 2003
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Schizophrenia and chromosomal deletions within 22q11.2 Lindsay, E. A.; Morris, Michael Andréw; Gos, A.; Nestadt, G.; ... Pulver, A. E. 1995
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Schizophrenia susceptibility and chromosome 6p24-22 Antonarakis, Stylianos; Blouin, Jean-Louis; Pulver, A. E.; Wolyniec, P.; ... Dombroski, B. 1995
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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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Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2 Buchet-Poyau, K.; Mehenni, H.; Radhakrishna, U.; Antonarakis, Stylianos 2002
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Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing Ferreira, Pedro G; Oti, Martin; Barann, Matthias; Wieland, Thomas; ... Sammeth, Michael 2016
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Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation Bottani, Armand; Chelly, Jamel; de Brouwer, A. P.; Pardo, Bruno; ... Conrad, Bernard 2007
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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stephanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos 2014
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Single-minded and Down syndrome? Chen, H.; Chrast, R.; Rossier, Colette; Gos, A.; ... Minoshima, S. 1995
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Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers Gold, Gabriel; Blouin, Jean-Louis; Herrmann, François; Michon, Agnès; ... Antonarakis, Stylianos 2003
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Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; ... Antonarakis, Stylianos 2006
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Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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Structured RNAs in the ENCODE selected regions of the human genome Washietl, Stefan; Pedersen, J. S.; Korbel, J. O.; Stocsits, Claudia; ... Stadler, P. F. 2007
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Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes Merla, Giuseppe; Howald, Cedric; Henrichsen, C. N.; Lyle, Robert; ... Reymond, Alexandre 2006
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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
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Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome Voronov, S. V.; Frere, S. G.; Giovedi, Silvia; Pollina, E. A.; ... Di Paolo, Gilbert 2008
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Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells Liu, Yansheng; Borel, Christelle; Li, Li; Müller, Torsten; ... Aebersold, Ruedi 2017
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