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Items: 1 to 20 of 81

1.

Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: a second report.

Mariani M, Crosti F, Redaelli S, Fossati C, Piras R, Biondi A, Dalprà L, Selicorni A.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162B(5):485-6. doi: 10.1002/ajmg.b.32173. Epub 2013 Jun 6. No abstract available.

PMID:
23740672
2.

Response to Mariani et al.: a second report of PARK2 duplication and developmental delay.

Scheuerle AE, Wilson KS.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162B(5):484. doi: 10.1002/ajmg.b.32172. Epub 2013 Jun 4. No abstract available.

PMID:
23737263
3.

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: further support of an association and possible evidence for a new microdeletion/microduplication syndrome.

Scheuerle A, Wilson K.

Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):413-20. doi: 10.1002/ajmg.b.31176. Epub 2011 Feb 25.

PMID:
21360662
4.

Outfoxed by RBFOX1-a caution about ascertainment bias.

Kamien B, Lionel AC, Bain N, Scherer SW, Hunter M.

Am J Med Genet A. 2014 Jun;164A(6):1411-8. doi: 10.1002/ajmg.a.36458. Epub 2014 Mar 24.

PMID:
24664471
5.

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL.

Autism Res. 2009 Dec;2(6):359-64. doi: 10.1002/aur.107.

PMID:
20029827
6.

Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13.

Gurrieri F, Battaglia A, Torrisi L, Tancredi R, Cavallaro C, Sangiorgi E, Neri G.

Neurology. 1999 May 12;52(8):1694-7.

PMID:
10331703
7.

Contribution of germline mutations to PARK2 gene inactivation in lung adenocarcinoma.

Iwakawa R, Okayama H, Kohno T, Sato-Otsubo A, Ogawa S, Yokota J.

Genes Chromosomes Cancer. 2012 May;51(5):462-72. doi: 10.1002/gcc.21933. Epub 2012 Feb 3.

PMID:
22302706
8.

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. doi: 10.1002/ajmg.b.32114. Epub 2012 Nov 26.

PMID:
23184456
9.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

Froyen G, Belet S, Martinez F, Santos-Rebouças CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P.

Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26.

10.

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.

PMID:
19755429
11.

A novel X-linked disorder with developmental delay and autistic features.

Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT.

Ann Neurol. 2012 Apr;71(4):498-508. doi: 10.1002/ana.22673. Epub 2011 Dec 28.

PMID:
22213401
12.
13.

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.

Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X.

BMC Med Genet. 2012 Aug 21;13:75. doi: 10.1186/1471-2350-13-75.

14.

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.

Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, Fernandez BA, Weksberg R, Roberts W, Scherer SW.

Eur J Med Genet. 2011 Sep-Oct;54(5):e516-20. doi: 10.1016/j.ejmg.2011.05.008. Epub 2011 Jun 29.

PMID:
21689796
15.

Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease.

Koziorowski D, Hoffman-Zacharska D, Sławek J, Szirkowiec W, Janik P, Bal J, Friedman A.

Parkinsonism Relat Disord. 2010 Feb;16(2):136-8. doi: 10.1016/j.parkreldis.2009.06.010. Epub 2009 Jul 22.

PMID:
19628420
16.

Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15.

Borgatti R, Piccinelli P, Passoni D, Raggi E, Ferrarese C.

J Child Neurol. 2001 Dec;16(12):911-4.

PMID:
11785506
17.

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.

Wiśniowiecka-Kowalnik B, Nesteruk M, Peters SU, Xia Z, Cooper ML, Savage S, Amato RS, Bader P, Browning MF, Haun CL, Duda AW 3rd, Cheung SW, Stankiewicz P.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):983-93. doi: 10.1002/ajmg.b.31064.

PMID:
20162629
18.

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.

Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van 't Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M.

Clin Genet. 2009 Oct;76(4):348-56. doi: 10.1111/j.1399-0004.2009.01254.x.

PMID:
19793310
19.

[Copy number variation analysis of a Chinese Han family with autism spectrum disorder].

Yan G, Liang Y, Wang Y, Huang W, Zou X, Zhong N.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):654-8. doi: 10.3760/cma.j.issn.1003-9406.2010.06.011. Chinese.

PMID:
21154326
20.

Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.

Shadrina MI, Semenova EV, Slominsky PA, Bagyeva GH, Illarioshkin SN, Ivanova-Smolenskaia II, Limborska SA.

BMC Med Genet. 2007 Feb 26;8:6.

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