PMC Articles for MedGen (Select 332517) - PMC

Select item 74125921.

Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11.2 deletion

Kristopher R. Bosse, Aseem R. Shukla, Bruce Pawel, Kudakwashe R. Chikwava, Mariarita Santi, Laura Tooke, Katherine Castagna, Jaclyn A. Biegel, Rochelle Bagatell

Cancer Genet. Author manuscript; available in PMC 2020 Aug 7.

Published in final edited form as: Cancer Genet. 2014 Sep; 207(9): 415–419. Published online 2014 May 21. doi: 10.1016/j.cancergen.2014.05.007

PMCID:: PMC7412592

Abstract Article PDF–720K

Select item 70399962.

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

Abstract Article PDF–477K

Select item 64779223.

Sex Differences in Autism Spectrum Disorder: A Review

Sarah L. Ferri, Ted Abel, Edward S. Brodkin

Curr Psychiatry Rep. Author manuscript; available in PMC 2019 Apr 23.

Published in final edited form as: Curr Psychiatry Rep. 2018 Mar 5; 20(2): 9. Published online 2018 Mar 5. doi: 10.1007/s11920-018-0874-2

PMCID:: PMC6477922

Abstract Article PDF–481K

Select item 58806794.

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

Abstract Article PDF–541K

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

Abstract 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

Abstract Article PDF–89K

Select item 39471607.

Establishing a reference group for distal 18q-: Clinical description and molecular basis

Jannine D. Cody, Minire Hasi, Bridgette Soileau, Patricia Heard, Erika Carter, Courtney Sebold, Louise O’Donnell, Brian Perry, Robert F. Stratton, Daniel E. Hale

Hum Genet. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Hum Genet. 2014 Feb; 133(2): 199–209. Published online 2013 Oct 5. doi: 10.1007/s00439-013-1364-6

PMCID:: PMC3947160

Abstract Article PDF–884K

Select item 36696858.

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

Abstract Article PDF–2.3M

Select item 36582019.

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Barbara Wiśniowiecka-Kowalnik, Monika Kastory-Bronowska, Magdalena Bartnik, Katarzyna Derwińska, Wanda Dymczak-Domini, Dorota Szumbarska, Ewa Ziemka, Krzysztof Szczałuba, Maciej Sykulski, Tomasz Gambin, Anna Gambin, Chad A Shaw, Tadeusz Mazurczak, Ewa Obersztyn, Ewa Bocian, Paweł Stankiewicz

Eur J Hum Genet. 2013 Jun; 21(6): 620–625. Published online 2012 Oct 3. doi: 10.1038/ejhg.2012.219

PMCID:: PMC3658201

Abstract Article PDF–595K

Select item 357320710.

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

Abstract Article PDF–324K

Select item 311372311.

Evidence for association between Disrupted-in-schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study

Fanfan Zheng, Lifang Wang, Meixiang Jia, Weihua Yue, Yan Ruan, Tianlan Lu, Jing Liu, Jun Li, Dai Zhang

Behav Brain Funct. 2011; 7: 14. Published online 2011 May 15. doi: 10.1186/1744-9081-7-14

PMCID:: PMC3113723

Abstract Article PDF–689K

Select item 299350412.

Strong Association of De Novo Copy Number Mutations with Autism

Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall, Anthony Leotta, Deepa Pai, Ray Zhang, Yoon-Ha Lee, James Hicks, Sarah J. Spence, Annette T. Lee, Kaija Puura, Terho Lehtimäki, David Ledbetter, Peter K. Gregersen, Joel Bregman, James S. Sutcliffe, Vaidehi Jobanputra, Wendy Chung, Dorothy Warburton, Mary-Claire King, David Skuse, Daniel H. Geschwind, T. Conrad Gilliam, Kenny Ye, Michael Wigler

Science. Author manuscript; available in PMC 2010 Nov 29.

Published in final edited form as: Science. 2007 Apr 20; 316(5823): 445–449. Published online 2007 Mar 15. doi: 10.1126/science.1138659

PMCID:: PMC2993504

Abstract Article PDF–435K

Select item 256464613.

Independent replication and initial fine mapping of 3p21–24 in Asperger syndrome

K Rehnström, T Ylisaukko‐oja, T Nieminen‐von Wendt, S Sarenius, T Källman, E Kempas, L von Wendt, L Peltonen, I Järvelä

J Med Genet. 2006 Feb; 43(2): e6. doi: 10.1136/jmg.2005.033621

PMCID:: PMC2564646

Abstract Article PDF–188K

Select item 123532514.

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

Correction in:: Am J Hum Genet. 2001 Sep; 69(3): 672.

PMCID:: PMC1235325

Abstract Article PDF–213K

Select item 109774115.

Subjective face recognition difficulties, aberrant sensibility, sleeping disturbances and aberrant eating habits in families with Asperger syndrome

Taina Nieminen-von Wendt, Juulia E Paavonen, Tero Ylisaukko-Oja, Susan Sarenius, Tiia Källman, Irma Järvelä, Lennart von Wendt

BMC Psychiatry. 2005; 5: 20. Published online 2005 Apr 12. doi: 10.1186/1471-244X-5-20

PMCID:: PMC1097741

Abstract Article PDF–292K

Select item 37853516.

A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

Mari Auranen, Raija Vanhala, Teppo Varilo, Kristin Ayers, Elli Kempas, Tero Ylisaukko-oja, Janet S. Sinsheimer, Leena Peltonen, Irma Järvelä

Am J Hum Genet. 2002 Oct; 71(4): 777–790. Published online 2002 Aug 21. doi: 10.1086/342720

PMCID:: PMC378535

Abstract Article PDF–712K

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