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Results: 1 to 20 of 95

Similar articles for PubMed (Select 22237436)

1.

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.

2.

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. 2011 Oct 17. [Epub ahead of print]

PMID:
22008663
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.

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.

5.

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
6.

Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.

Goh ES, Banwell B, Stavropoulos DJ, Shago M, Yoon G.

Am J Med Genet A. 2014 Mar;164A(3):748-52. doi: 10.1002/ajmg.a.36322. Epub 2013 Dec 19.

PMID:
24357149
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
8.

[Clinical and genetic study of a case with Smith-Magenis syndrome].

Shen LX, Zhang JS, Ji X, Xing Y, Hu J, Tao J, Xiao B.

Zhonghua Er Ke Za Zhi. 2012 Mar;50(3):227-30. Chinese.

PMID:
22801211
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
10.

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
11.

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S.

Clin Genet. 2007 Jul;72(1):47-58.

PMID:
17594399
12.

A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.

Tug E, Cine N, Aydin H.

Genet Couns. 2011;22(1):11-9.

PMID:
21614983
13.

Cardiovascular malformations and complications in Turner syndrome.

Sybert VP.

Pediatrics. 1998 Jan;101(1):E11.

PMID:
9417175
14.

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.

15.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK.

Eur J Hum Genet. 2012 Feb;20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7.

16.

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.

17.

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
18.

Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.

Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek AM.

Am J Med Genet A. 2011 Nov;155A(11):2816-20. doi: 10.1002/ajmg.a.34247. Epub 2011 Sep 30.

PMID:
21965155
19.

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.

Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, de Martinville B.

Am J Med Genet A. 2008 Apr 1;146A(7):917-24. doi: 10.1002/ajmg.a.32195.

PMID:
18327785
20.

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH.

Genet Med. 2006 Jul;8(7):417-27.

PMID:
16845274
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