Sökning: WFRF:(Buxbaum Sarah G) > Mapping autism risk...
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000 | 07940naa a2202113 4500 | |
001 | oai:gup.ub.gu.se/65906 | |
003 | SwePub | |
008 | 240910s2007 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/659062 URI |
024 | 7 | a https://doi.org/10.1038/ng19852 DOI |
040 | a (SwePub)gu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Szatmari, Peter4 aut |
245 | 1 0 | a Mapping autism risk loci using genetic linkage and chromosomal rearrangements. |
264 | c 2007-02-18 | |
264 | 1 | b Springer Science and Business Media LLC,c 2007 |
520 | a Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng |
653 | a Autistic Disorder | |
653 | a Diagnosis | |
653 | a Genetics | |
653 | a Chromosome Aberrations | |
653 | a Chromosome Mapping | |
653 | a Family | |
653 | a Female | |
653 | a Genetic Linkage | |
653 | a Genetic Predisposition to Disease | |
653 | a Genetic Testing | |
653 | a Methods | |
653 | a Genetic Variation | |
653 | a Humans | |
653 | a Lod Score | |
653 | a Male | |
653 | a Risk Factors | |
700 | 1 | a Paterson, Andrew D4 aut |
700 | 1 | a Zwaigenbaum, Lonnie4 aut |
700 | 1 | a Roberts, Wendy4 aut |
700 | 1 | a Brian, Jessica4 aut |
700 | 1 | a Liu, Xiao-Qing4 aut |
700 | 1 | a Vincent, John B4 aut |
700 | 1 | a Skaug, Jennifer L4 aut |
700 | 1 | a Thompson, Ann P4 aut |
700 | 1 | a Senman, Lili4 aut |
700 | 1 | a Feuk, Lars4 aut |
700 | 1 | a Qian, Cheng4 aut |
700 | 1 | a Bryson, Susan E4 aut |
700 | 1 | a Jones, Marshall B4 aut |
700 | 1 | a Marshall, Christian R4 aut |
700 | 1 | a Scherer, Stephen W4 aut |
700 | 1 | a Vieland, Veronica J4 aut |
700 | 1 | a Bartlett, Christopher4 aut |
700 | 1 | a Mangin, La Vonne4 aut |
700 | 1 | a Goedken, Rhinda4 aut |
700 | 1 | a Segre, Alberto4 aut |
700 | 1 | a Pericak-Vance, Margaret A4 aut |
700 | 1 | a Cuccaro, Michael L4 aut |
700 | 1 | a Gilbert, John R4 aut |
700 | 1 | a Wright, Harry H4 aut |
700 | 1 | a Abramson, Ruth K4 aut |
700 | 1 | a Betancur, Catalina4 aut |
700 | 1 | a Bourgeron, Thomas4 aut |
700 | 1 | a Gillberg, Christopher,d 1950u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xgilch |
700 | 1 | a Leboyer, Marion4 aut |
700 | 1 | a Buxbaum, Joseph D4 aut |
700 | 1 | a Davis, Kenneth L4 aut |
700 | 1 | a Hollander, Eric4 aut |
700 | 1 | a Silverman, Jeremy M4 aut |
700 | 1 | a Hallmayer, Joachim4 aut |
700 | 1 | a Lotspeich, Linda4 aut |
700 | 1 | a Sutcliffe, James S4 aut |
700 | 1 | a Haines, Jonathan L4 aut |
700 | 1 | a Folstein, Susan E4 aut |
700 | 1 | a Piven, Joseph4 aut |
700 | 1 | a Wassink, Thomas H4 aut |
700 | 1 | a Sheffield, Val4 aut |
700 | 1 | a Geschwind, Daniel H4 aut |
700 | 1 | a Bucan, Maja4 aut |
700 | 1 | a Brown, W Ted4 aut |
700 | 1 | a Cantor, Rita M4 aut |
700 | 1 | a Constantino, John N4 aut |
700 | 1 | a Gilliam, T Conrad4 aut |
700 | 1 | a Herbert, Martha4 aut |
700 | 1 | a Lajonchere, Clara4 aut |
700 | 1 | a Ledbetter, David H4 aut |
700 | 1 | a Lese-Martin, Christa4 aut |
700 | 1 | a Miller, Janet4 aut |
700 | 1 | a Nelson, Stan4 aut |
700 | 1 | a Samango-Sprouse, Carol A4 aut |
700 | 1 | a Spence, Sarah4 aut |
700 | 1 | a State, Matthew4 aut |
700 | 1 | a Tanzi, Rudolph E4 aut |
700 | 1 | a Coon, Hilary4 aut |
700 | 1 | a Dawson, Geraldine4 aut |
700 | 1 | a Devlin, Bernie4 aut |
700 | 1 | a Estes, Annette4 aut |
700 | 1 | a Flodman, Pamela4 aut |
700 | 1 | a Klei, Lambertus4 aut |
700 | 1 | a McMahon, William M4 aut |
700 | 1 | a Minshew, Nancy4 aut |
700 | 1 | a Munson, Jeff4 aut |
700 | 1 | a Korvatska, Elena4 aut |
700 | 1 | a Rodier, Patricia M4 aut |
700 | 1 | a Schellenberg, Gerard D4 aut |
700 | 1 | a Smith, Moyra4 aut |
700 | 1 | a Spence, M Anne4 aut |
700 | 1 | a Stodgell, Chris4 aut |
700 | 1 | a Tepper, Ping Guo4 aut |
700 | 1 | a Wijsman, Ellen M4 aut |
700 | 1 | a Yu, Chang-En4 aut |
700 | 1 | a Rogé, Bernadette4 aut |
700 | 1 | a Mantoulan, Carine4 aut |
700 | 1 | a Wittemeyer, Kerstin4 aut |
700 | 1 | a Poustka, Annemarie4 aut |
700 | 1 | a Felder, Bärbel4 aut |
700 | 1 | a Klauck, Sabine M4 aut |
700 | 1 | a Schuster, Claudia4 aut |
700 | 1 | a Poustka, Fritz4 aut |
700 | 1 | a Bölte, Sven4 aut |
700 | 1 | a Feineis-Matthews, Sabine4 aut |
700 | 1 | a Herbrecht, Evelyn4 aut |
700 | 1 | a Schmötzer, Gabi4 aut |
700 | 1 | a Tsiantis, John4 aut |
700 | 1 | a Papanikolaou, Katerina4 aut |
700 | 1 | a Maestrini, Elena4 aut |
700 | 1 | a Bacchelli, Elena4 aut |
700 | 1 | a Blasi, Francesca4 aut |
700 | 1 | a Carone, Simona4 aut |
700 | 1 | a Toma, Claudio4 aut |
700 | 1 | a Van Engeland, Herman4 aut |
700 | 1 | a de Jonge, Maretha4 aut |
700 | 1 | a Kemner, Chantal4 aut |
700 | 1 | a Koop, Frederike4 aut |
700 | 1 | a Langemeijer, Marjolijn4 aut |
700 | 1 | a Hijimans, Channa4 aut |
700 | 1 | a Staal, Wouter G4 aut |
700 | 1 | a Baird, Gillian4 aut |
700 | 1 | a Bolton, Patrick F.4 aut |
700 | 1 | a Rutter, Michael L4 aut |
700 | 1 | a Weisblatt, Emma4 aut |
700 | 1 | a Green, Jonathan4 aut |
700 | 1 | a Aldred, Catherine4 aut |
700 | 1 | a Wilkinson, Julie-Anne4 aut |
700 | 1 | a Pickles, Andrew4 aut |
700 | 1 | a Le Couteur, Ann4 aut |
700 | 1 | a Berney, Tom4 aut |
700 | 1 | a McConachie, Helen4 aut |
700 | 1 | a Bailey, Anthony J4 aut |
700 | 1 | a Francis, Kostas4 aut |
700 | 1 | a Honeyman, Gemma4 aut |
700 | 1 | a Hutchinson, Aislinn4 aut |
700 | 1 | a Parr, Jeremy R4 aut |
700 | 1 | a Wallace, Simon4 aut |
700 | 1 | a Monaco, Anthony P4 aut |
700 | 1 | a Barnby, Gabrielle4 aut |
700 | 1 | a Kobayashi, Kazuhiro4 aut |
700 | 1 | a Lamb, Janine A4 aut |
700 | 1 | a Sousa, Ines4 aut |
700 | 1 | a Sykes, Nuala4 aut |
700 | 1 | a Cook, Edwin H4 aut |
700 | 1 | a Guter, Stephen J4 aut |
700 | 1 | a Leventhal, Bennett L4 aut |
700 | 1 | a Salt, Jeff4 aut |
700 | 1 | a Lord, Catherine4 aut |
700 | 1 | a Corsello, Christina4 aut |
700 | 1 | a Hus, Vanessa4 aut |
700 | 1 | a Weeks, Daniel E4 aut |
700 | 1 | a Volkmar, Fred4 aut |
700 | 1 | a Tauber, Maïté4 aut |
700 | 1 | a Fombonne, Eric4 aut |
700 | 1 | a Shih, Andy4 aut |
710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org |
773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 39:3, s. 319-328q 39:3<319-328x 1061-4036x 1546-1718 |
856 | 4 | u https://kclpure.kcl.ac.uk/portal/files/8586047/Szatmari_2007_Mapping_autism_risk.pdf |
856 | 4 8 | u https://gup.ub.gu.se/publication/65906 |
856 | 4 8 | u https://doi.org/10.1038/ng1985 |
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