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Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Artikel i vetenskaplig tidskrift
Författare Peter Szatmari
Andrew D Paterson
Lonnie Zwaigenbaum
Wendy Roberts
Jessica Brian
Xiao-Qing Liu
John B Vincent
Jennifer L Skaug
Ann P Thompson
Lili Senman
Lars Feuk
Cheng Qian
Susan E Bryson
Marshall B Jones
Christian R Marshall
Stephen W Scherer
Veronica J Vieland
Christopher Bartlett
La Vonne Mangin
Rhinda Goedken
Alberto Segre
Margaret A Pericak-Vance
Michael L Cuccaro
John R Gilbert
Harry H Wright
Ruth K Abramson
Catalina Betancur
Thomas Bourgeron
Christopher Gillberg
Marion Leboyer
Joseph D Buxbaum
Kenneth L Davis
Eric Hollander
Jeremy M Silverman
Joachim Hallmayer
Linda Lotspeich
James S Sutcliffe
Jonathan L Haines
Susan E Folstein
Joseph Piven
Thomas H Wassink
Val Sheffield
Daniel H Geschwind
Maja Bucan
W Ted Brown
Rita M Cantor
John N Constantino
T Conrad Gilliam
Martha Herbert
Clara Lajonchere
David H Ledbetter
Christa Lese-Martin
Janet Miller
Stan Nelson
Carol A Samango-Sprouse
Sarah Spence
Matthew State
Rudolph E Tanzi
Hilary Coon
Geraldine Dawson
Bernie Devlin
Annette Estes
Pamela Flodman
Lambertus Klei
William M McMahon
Nancy Minshew
Jeff Munson
Elena Korvatska
Patricia M Rodier
Gerard D Schellenberg
Moyra Smith
M Anne Spence
Chris Stodgell
Ping Guo Tepper
Ellen M Wijsman
Chang-En Yu
Bernadette Rogé
Carine Mantoulan
Kerstin Wittemeyer
Annemarie Poustka
Bärbel Felder
Sabine M Klauck
Claudia Schuster
Fritz Poustka
Sven Bölte
Sabine Feineis-Matthews
Evelyn Herbrecht
Gabi Schmötzer
John Tsiantis
Katerina Papanikolaou
Elena Maestrini
Elena Bacchelli
Francesca Blasi
Simona Carone
Claudio Toma
Herman Van Engeland
Maretha de Jonge
Chantal Kemner
Frederike Koop
Marjolijn Langemeijer
Channa Hijimans
Wouter G Staal
Gillian Baird
Patrick F. Bolton
Michael L Rutter
Emma Weisblatt
Jonathan Green
Catherine Aldred
Julie-Anne Wilkinson
Andrew Pickles
Ann Le Couteur
Tom Berney
Helen McConachie
Anthony J Bailey
Kostas Francis
Gemma Honeyman
Aislinn Hutchinson
Jeremy R Parr
Simon Wallace
Anthony P Monaco
Gabrielle Barnby
Kazuhiro Kobayashi
Janine A Lamb
Ines Sousa
Nuala Sykes
Edwin H Cook
Stephen J Guter
Bennett L Leventhal
Jeff Salt
Catherine Lord
Christina Corsello
Vanessa Hus
Daniel E Weeks
Fred Volkmar
Maïté Tauber
Eric Fombonne
Andy Shih
Publicerad i Nature Genetics
Volym 39
Nummer/häfte 3
Sidor 319-328
ISSN 1061-4036
Publiceringsår 2007
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
Sidor 319-328
Språk en
Länkar dx.doi.org/10.1038/ng1985
Ämnesord Autistic Disorder, Diagnosis, Genetics, Chromosome Aberrations, Chromosome Mapping, Family, Female, Genetic Linkage, Genetic Predisposition to Disease, Genetic Testing, Methods, Genetic Variation, Humans, Lod Score, Male, Risk Factors
Ämneskategorier Psykiatri

Sammanfattning

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.

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