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Items: 1 to 20 of 37

1.

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L.

Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4.

PMID:
22488896
2.

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

Wang P, Carrion P, Qiao Y, Tyson C, Hrynchak M, Calli K, Lopez-Rangel E, Andrieux J, Delobel B, Duban-Bedu B, Thuresson AC, Annerén G, Liu X, Rajcan-Separovic E, Suzanne Lewis ME.

Eur J Med Genet. 2013 Aug;56(8):420-5. doi: 10.1016/j.ejmg.2013.05.006. Epub 2013 May 29. Review.

PMID:
23727450
3.

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.

Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB.

Am J Med Genet A. 2011 Nov;155A(11):2841-54. doi: 10.1002/ajmg.a.34259. Epub 2011 Sep 30. Review.

PMID:
21964744
4.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
5.

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L.

Am J Med Genet A. 2014 Feb;164A(2):500-4. doi: 10.1002/ajmg.a.36287. Epub 2013 Dec 5. Review.

PMID:
24311450
6.

The genetic landscape of autism spectrum disorders.

Rosti RO, Sadek AA, Vaux KK, Gleeson JG.

Dev Med Child Neurol. 2014 Jan;56(1):12-8. doi: 10.1111/dmcn.12278. Epub 2013 Oct 1. Review.

7.

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K.

Am J Med Genet A. 2012 Apr;158A(4):861-8. doi: 10.1002/ajmg.a.35235. Epub 2012 Mar 9. Review.

PMID:
22407754
8.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

Genet Med. 2007 Sep;9(9):607-16. Review.

PMID:
17873649
9.

Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?

Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U.

Am J Med Genet A. 2015 Mar;167A(3):553-62. doi: 10.1002/ajmg.a.36897. Review.

PMID:
25691408
10.

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.

Bierhals T, Maddukuri SB, Kutsche K, Girisha KM.

Am J Med Genet A. 2013 Feb;161A(2):352-9. doi: 10.1002/ajmg.a.35730. Epub 2013 Jan 10. Review.

PMID:
23307502
11.

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Betancur C.

Brain Res. 2011 Mar 22;1380:42-77. doi: 10.1016/j.brainres.2010.11.078. Epub 2010 Dec 1. Review.

PMID:
21129364
12.
13.

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

Orellana C, Roselló M, Monfort S, Mayo S, Oltra S, Martínez F.

Am J Med Genet A. 2015 Jul;167(7):1614-20. doi: 10.1002/ajmg.a.37046. Epub 2015 Apr 9. Review.

PMID:
25858326
14.

The genetics of Autism Spectrum Disorders--a guide for clinicians.

Heil KM, Schaaf CP.

Curr Psychiatry Rep. 2013 Jan;15(1):334. doi: 10.1007/s11920-012-0334-3. Review.

PMID:
23250815
15.

17q12 Recurrent Duplication.

Mefford H, Mitchell E, Hodge J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Feb 25.

16.

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

Esplin ED, Li B, Slavotinek A, Novelli A, Battaglia A, Clark R, Curry C, Hudgins L.

Am J Med Genet A. 2014 Aug;164A(8):2097-103. doi: 10.1002/ajmg.a.36598. Epub 2014 May 6. Review.

PMID:
24800990
17.

Recent developments in the genetics of autism spectrum disorders.

Murdoch JD, State MW.

Curr Opin Genet Dev. 2013 Jun;23(3):310-5. doi: 10.1016/j.gde.2013.02.003. Epub 2013 Mar 25. Review.

PMID:
23537858
18.

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.

Srivastava AK, Schwartz CE.

Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:161-74. doi: 10.1016/j.neubiorev.2014.02.015. Epub 2014 Apr 4. Review.

19.

Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.

Bill BR, Lowe JK, Dybuncio CT, Fogel BL.

Int Rev Neurobiol. 2013;113:251-67. doi: 10.1016/B978-0-12-418700-9.00008-3. Review.

20.

Chromosome microarray in Australia: a guide for paediatricians.

Palmer EE, Peters GB, Mowat D.

J Paediatr Child Health. 2012 Feb;48(2):E59-67. doi: 10.1111/j.1440-1754.2011.02081.x. Review.

PMID:
22320280
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