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A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder.

Roohi J, Tegay DH, Pomeroy JC, Burkett S, Stone G, Stanyon R, Hatchwell E.

Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):411-7. doi: 10.1002/ajmg.b.30755.


The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.


A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G.

Am J Med Genet A. 2007 Nov 15;143A(22):2733-7.


A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.

Griesi-Oliveira K, Moreira Dde P, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR.

Am J Med Genet B Neuropsychiatr Genet. 2012 Jul;159B(5):529-36. doi: 10.1002/ajmg.b.32059. Epub 2012 May 16.


A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature.

Charalsawadi C, Maisrikhaw W, Praphanphoj V, Wirojanan J, Hansakunachai T, Roongpraiwan R, Sombuntham T, Ruangdaraganon N, Limprasert P.

Cytogenet Genome Res. 2014;144(1):1-8. doi: 10.1159/000365909. Epub 2014 Aug 23. Review.


A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.

Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH.

Am J Med Genet A. 2010 Jan;152A(1):196-202. doi: 10.1002/ajmg.a.33176.


Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008.

Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators; Centers for Disease Control and Prevention.

MMWR Surveill Summ. 2012 Mar 30;61(3):1-19.


Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.

Floris C, Rassu S, Boccone L, Gasperini D, Cao A, Crisponi L.

Eur J Hum Genet. 2008 Jun;16(6):696-704. doi: 10.1038/ejhg.2008.7. Epub 2008 Feb 13.


Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation.

Yang Y, Wang C, Wang F, Zhu L, Liu H, He X.

Gene. 2012 Jul 10;502(2):154-8. doi: 10.1016/j.gene.2012.04.036. Epub 2012 Apr 24.


A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.

Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M.

BMC Med Genet. 2004 Apr 16;5:10.


Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism.

Ren CM, Liang Y, Wei F, Zhang YN, Zhong SQ, Gu H, Dong XS, Huang YY, Ke H, Son XM, Tang D, Chen Z.

Biochim Biophys Acta. 2013 Mar;1832(3):431-8. doi: 10.1016/j.bbadis.2012.11.009. Epub 2012 Nov 26.


Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.

Laumonnier F, Roger S, Guérin P, Molinari F, M'rad R, Cahard D, Belhadj A, Halayem M, Persico AM, Elia M, Romano V, Holbert S, Andres C, Chaabouni H, Colleaux L, Constant J, Le Guennec JY, Briault S.

Am J Psychiatry. 2006 Sep;163(9):1622-9.


Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.


Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S; International Molecular Genetic Study of Autism Consortium, Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird G, Monaco AP.

Am J Med Genet A. 2009 Feb 15;149A(4):588-97. doi: 10.1002/ajmg.a.32704.


[A case of pervasive developmental disorder with chromosomal translocation (X; 4) (p11; q13)].

Azzoni A, Raja M.

Encephale. 2006 May-Jun;32(3 Pt 1):325-7. French.


The autism candidate gene Neurobeachin encodes a scaffolding protein implicated in membrane trafficking and signaling.

Volders K, Nuytens K, Creemers JW.

Curr Mol Med. 2011 Apr;11(3):204-17. Review.


De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.

Bayou N, M'rad R, Belhaj A, Daoud H, Ben Jemaa L, Zemni R, Briault S, Helayem MB, Chaabouni H.

J Biomed Biotechnol. 2008;2008:231904. doi: 10.1155/2008/231904.


A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.

Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, Marshall C, Hrynchak M, Pewsey E, Ukadike KC, Friedman JM, Srivastava AK, Scherer SW.

Psychiatr Genet. 2008 Jun;18(3):101-9. doi: 10.1097/YPG.0b013e3282f97df7.


Autism and other pervasive developmental disorders: exploring the dimensional view.

Myhr G.

Can J Psychiatry. 1998 Aug;43(6):589-95. Review.


A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation.

Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L, O'Brien PC, Ferguson-Smith MA, Ropers HH, Tommerup N, Kalscheuer VM, Sargan DR.

J Med Genet. 2002 Jun;39(6):391-9.

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