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Items: 1 to 20 of 95

1.

The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.

Sanchez-Valle A, Pierpont ME, Potocki L.

Am J Med Genet A. 2011 Feb;155A(2):363-6. doi: 10.1002/ajmg.a.33844. Epub 2011 Jan 13.

2.

Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.

Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH.

Am J Med Genet A. 2011 Feb;155A(2):367-71. doi: 10.1002/ajmg.a.33845.

PMID:
21271656
3.

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.

4.

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
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.

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.

Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L.

J Pediatr. 2011 Apr;158(4):655-659.e2. doi: 10.1016/j.jpeds.2010.09.062. Epub 2010 Dec 17.

7.

Prenatal diagnosis of the duplication 17p11.2 associated with Potocki-Lupski syndrome in a foetus presenting with mildly dysmorphic features.

Popowski T, Molina-Gomes D, Loeuillet L, Boukobza P, Roume J, Vialard F.

Eur J Med Genet. 2012 Dec;55(12):723-6. doi: 10.1016/j.ejmg.2012.08.008. Epub 2012 Aug 28.

PMID:
22982247
8.

Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.

Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL.

Brain Dev. 2012 Sep;34(8):700-3. doi: 10.1016/j.braindev.2011.11.003. Epub 2011 Dec 16.

9.

Stress and well-being among parents of children with Potocki-Lupski syndrome.

Carter RD, Raia M, Ewing-Cobbs L, Gambello M, Hashmi SS, Peterson SK, Robbins-Furman P, Potocki L.

J Genet Couns. 2013 Oct;22(5):633-42. doi: 10.1007/s10897-013-9602-6. Epub 2013 May 25.

PMID:
23709095
10.

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
11.

Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery.

Bravo C, Gámez F, Pérez R, Águarón A, De León-Luis J.

J Perinatol. 2013 May;33(5):394-6. doi: 10.1038/jp.2012.77.

PMID:
23624966
12.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR.

Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001. Epub 2010 Feb 25.

13.

Cardiovascular findings in duplication 17p11.2 syndrome.

Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L.

Genet Med. 2012 Jan;14(1):90-4. doi: 10.1038/gim.0b013e3182329723. Epub 2011 Oct 17.

14.

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.

15.

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
16.

Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.

Lacaria M, Gu W, Lupski JR.

Am J Med Genet A. 2013 Jul;161A(7):1561-8. doi: 10.1002/ajmg.a.35941. Epub 2013 May 23.

17.

Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.

Lacaria M, Spencer C, Gu W, Paylor R, Lupski JR.

Hum Mol Genet. 2012 Jul 15;21(14):3083-96. doi: 10.1093/hmg/dds124. Epub 2012 Apr 5.

18.

Potocki-Lupski syndrome in conjunction with bilateral clubfoot.

Dhanaraj D, Chu A, Pappas JG, Moran E, Lehman WB.

J Pediatr Orthop B. 2015 Jul;24(4):373-6. doi: 10.1097/BPB.0000000000000131.

PMID:
25768679
19.

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior.

Carmona-Mora P, Walz K.

Curr Genomics. 2010 Dec;11(8):607-17. doi: 10.2174/138920210793360952.

20.

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M.

PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861. Epub 2011 Aug 8.

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