PMC Articles for MedGen (Select 400650) - PMC

Select item 70399961.

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion

Transl Psychiatry. 2020; 10: 77. Published online 2020 Feb 24. doi: 10.1038/s41398-020-0760-7

PMCID:: PMC7039996

Article PDF–477K

Select item 62476192.

The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations

Pierandrea Muglia, Michele Filosi, Lucio Da Ros, Tony Kam-Thong, Franco Nardocci, Elisabetta Trabetti, Emiliangelo Ratti, Paolo Rizzini, Alessandro Zuddas, Bernardo Dalla Bernardina, Enrico Domenici, on behalf of the Italian Autism Network

BMC Psychiatry. 2018; 18: 369. Published online 2018 Nov 21. doi: 10.1186/s12888-018-1937-y

PMCID:: PMC6247619

Article PDF–730K

Select item 58806793.

Heritable Variation, With Little or No Maternal Effect, Accounts for Recurrence Risk to Autism Spectrum Disorder in Sweden

Benjamin Hon Kei Yip, Dan Bai, Behrang Mahjani, Lambertus Klei, Yudi Pawitan, Christina M. Hultman, Dorothy E. Grice, Kathryn Roeder, Joseph D. Buxbaum, Bernie Devlin, Abraham Reichenberg, Sven Sandin

Biol Psychiatry. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Biol Psychiatry. 2018 Apr 1; 83(7): 589–597. Published online 2017 Sep 21. doi: 10.1016/j.biopsych.2017.09.007

PMCID:: PMC5880679

Article PDF–541K

Select item 54903664.

Microduplications in an Autism Multiplex Family Narrow the Region of Susceptibility for Developmental Disorders on 15q24 and Implicate 7p21

Holly N. Cukier, Daria Salyakina, Sarah F. Blankstein, Joycelyn L. Robinson, Stephanie Sacharow, Deqiong Ma, Harry H. Wright, Ruth K. Abramson, Ramkumar Menon, Scott M. Williams, Jonathan L. Haines, Michael L. Cuccaro, John R. Gilbert, Margaret A. Pericak-Vance

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2017 Jun 29.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2011 Jun; 156B(4): 493–501. Published online 2011 Apr 7. doi: 10.1002/ajmg.b.31188

PMCID:: PMC5490366

Article PDF–551K

Select item 44355565.

Variants in Several Genomic Regions Associated with Asperger Disorder

D. Salyakina, D.Q. Ma, J.M. Jaworski, I. Konidari, P.L. Whitehead, R. Henson, D. Martinez, J.L. Robinson, S. Sacharow, H.H. Wright, R.K. Abramson, J.R. Gilbert, M.L. Cuccaro, M.A. Pericak-Vance

Autism Res. Author manuscript; available in PMC 2015 May 18.

Published in final edited form as: Autism Res. 2010 Dec; 3(6): 303–310. doi: 10.1002/aur.158

PMCID:: PMC4435556

Article PDF–357K

Select item 41871036.

FAMILY HISTORY OF SCHIZOPHRENIA AND BIPOLAR DISORDER AS RISK FACTORS FOR AUTISM

Patrick F. Sullivan, Cecilia Magnusson, Abraham Reichenberg, Marcus Boman, Christina Dalman, Michael Davidson, Eyal Fruchter, Christina M. Hultman, Michael Lundberg, Niklas Långström, Mark Weiser, Anna C. Svensson, Paul Lichtenstein

Arch Gen Psychiatry. Author manuscript; available in PMC 2014 Oct 7.

Published in final edited form as: Arch Gen Psychiatry. 2012 Nov; 69(11): 1099–1103. doi: 10.1001/archgenpsychiatry.2012.730

PMCID:: PMC4187103

Article PDF–89K

Select item 36696857.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Ayman W. El-Hattab, Teresa A. Smolarek, Martha E. Walker, Elizabeth K. Schorry, LaDonna L. Immken, Gayle Patel, Mary-Alice Abbott, Brendan C. Lanpher, Zhishuo Ou, Sung-Hae L. Kang, Ankita Patel, Fernando Scaglia, James R. Lupski, Sau Wai Cheung, Pawel Stankiewicz

Hum Genet. Author manuscript; available in PMC 2013 Jun 3.

Published in final edited form as: Hum Genet. 2009 Oct; 126(4): 589–602. Published online 2009 Jun 26. doi: 10.1007/s00439-009-0706-x

PMCID:: PMC3669685

Article PDF–2.3M

Select item 35732078.

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Luigi Boccuto, Maria Lauri, Sara M Sarasua, Cindy D Skinner, Daniela Buccella, Alka Dwivedi, Daniela Orteschi, Julianne S Collins, Marcella Zollino, Paola Visconti, Barb DuPont, Danilo Tiziano, Richard J Schroer, Giovanni Neri, Roger E Stevenson, Fiorella Gurrieri, Charles E Schwartz

Eur J Hum Genet. 2013 Mar; 21(3): 310–316. Published online 2012 Aug 15. doi: 10.1038/ejhg.2012.175

PMCID:: PMC3573207

Article PDF–324K

Select item 26996199.

Mitochondrial myopathy associated with a novel mutation in mtDNA

Jacklyn Pancrudo, Sara Shanske, Jorida Coku, J Lu, Rebecca Mardach, Orhan Akman, Sindu Krishna, Eduardo Bonilla, Salvatore DiMauro

Neuromuscul Disord. Author manuscript; available in PMC 2009 Jun 22.

Published in final edited form as: Neuromuscul Disord. 2007 Aug; 17(8): 651–654. Published online 2007 Jun 27. doi: 10.1016/j.nmd.2007.04.005

PMCID:: PMC2699619

Article PDF–524K

Select item 123532510.

A Genomewide Screen for Autism Susceptibility Loci

Jianjun Liu, Dale R. Nyholt, Patrick Magnussen, Enrico Parano, Piero Pavone, Daniel Geschwind, Catherine Lord, Portia Iversen, Josephine Hoh, the Autism Genetic Resource Exchange Consortium, Jurg Ott, T. Conrad Gilliam

Am J Hum Genet. 2001 Aug; 69(2): 327–340. Published online 2001 Jul 10. doi: 10.1086/321980