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Results: 1 to 20 of 131

1.

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).

Treadwell-Deering DE, Powell MP, Potocki L.

J Dev Behav Pediatr. 2010 Feb-Mar;31(2):137-43. doi: 10.1097/DBP.0b013e3181cda67e.

PMID:
20110824
[PubMed - indexed for MEDLINE]
2.

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR.

Am J Hum Genet. 2007 Apr;80(4):633-49. Epub 2007 Feb 26.

PMID:
17357070
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
[PubMed - indexed for MEDLINE]
4.

Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB.

J Korean Med Sci. 2012 Dec;27(12):1586-90. doi: 10.3346/jkms.2012.27.12.1586. Epub 2012 Dec 7.

PMID:
23255863
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Structure of the autism symptom phenotype: A proposed multidimensional model.

Georgiades S, Szatmari P, Zwaigenbaum L, Duku E, Bryson S, Roberts W, Goldberg J, Mahoney W.

J Am Acad Child Adolesc Psychiatry. 2007 Feb;46(2):188-96.

PMID:
17242622
[PubMed - indexed for MEDLINE]
6.

Autism and autistic behavior in Joubert syndrome.

Ozonoff S, Williams BJ, Gale S, Miller JN.

J Child Neurol. 1999 Oct;14(10):636-41.

PMID:
10511335
[PubMed - indexed for MEDLINE]
7.

Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.

Lee CG, Park SJ, Yim SY, Sohn YB.

Brain Dev. 2013 Aug;35(7):681-5. doi: 10.1016/j.braindev.2012.09.009. Epub 2012 Oct 15.

PMID:
23078968
[PubMed - indexed for MEDLINE]
8.

Differences in the clinical presentation of Trisomy 21 with and without autism.

Molloy CA, Murray DS, Kinsman A, Castillo H, Mitchell T, Hickey FJ, Patterson B.

J Intellect Disabil Res. 2009 Feb;53(2):143-51.

PMID:
19198037
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P.

Am J Med Genet. 2001 Dec 8;105(8):675-85. Review.

PMID:
11803514
[PubMed - indexed for MEDLINE]
11.

Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders.

Hofvander B, Delorme R, Chaste P, Nydén A, Wentz E, Ståhlberg O, Herbrecht E, Stopin A, Anckarsäter H, Gillberg C, Råstam M, Leboyer M.

BMC Psychiatry. 2009 Jun 10;9:35. doi: 10.1186/1471-244X-9-35.

PMID:
19515234
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.

Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L.

Am J Med Genet A. 2010 Mar;152A(3):565-72. doi: 10.1002/ajmg.a.33245. Review.

PMID:
20140962
[PubMed - indexed for MEDLINE]
13.

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R.

Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25.

PMID:
22639462
[PubMed - indexed for MEDLINE]
14.

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

Myhr G.

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

PMID:
9729686
[PubMed - indexed for MEDLINE]
15.

Exploring the borderlands of autistic disorder and specific language impairment: a study using standardised diagnostic instruments.

Bishop DV, Norbury CF.

J Child Psychol Psychiatry. 2002 Oct;43(7):917-29.

PMID:
12405479
[PubMed - indexed for MEDLINE]
16.

Autism spectrum disorder in the second year: stability and change in syndrome expression.

Chawarska K, Klin A, Paul R, Volkmar F.

J Child Psychol Psychiatry. 2007 Feb;48(2):128-38.

PMID:
17300551
[PubMed - indexed for MEDLINE]
17.

The structure of the Autism Diagnostic Interview-Revised: diagnostic and phenotypic implications.

Snow AV, Lecavalier L, Houts C.

J Child Psychol Psychiatry. 2009 Jun;50(6):734-42. doi: 10.1111/j.1469-7610.2008.02018.x. Epub 2008 Dec 16.

PMID:
19207624
[PubMed - indexed for MEDLINE]
18.

Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.

Fisch GS, Davis R, Youngblom J, Gregg J.

Behav Genet. 2011 May;41(3):373-80. doi: 10.1007/s10519-011-9447-4. Epub 2011 Jan 23.

PMID:
21259039
[PubMed - indexed for MEDLINE]
19.

Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.

van Balkom ID, Shaw A, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC.

J Intellect Disabil Res. 2011 Oct;55(10):973-87. doi: 10.1111/j.1365-2788.2011.01451.x. Epub 2011 Jul 26.

PMID:
21790824
[PubMed - indexed for MEDLINE]
20.

Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.

Kaufmann WE, Cortell R, Kau AS, Bukelis I, Tierney E, Gray RM, Cox C, Capone GT, Stanard P.

Am J Med Genet A. 2004 Sep 1;129A(3):225-34.

PMID:
15326621
[PubMed - indexed for MEDLINE]
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