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Items: 1 to 20 of 110

1.

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
2.

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. Review.

PMID:
24311450
3.

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.

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.

5.

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.

6.

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.

PMID:
23078968
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.

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.

9.

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
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.

PMID:
22639462
11.

Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome.

Leach NT, Chudoba I, Stewart TV, Holmes LB, Weremowicz S.

Am J Med Genet A. 2007 Jul 1;143A(13):1489-93.

PMID:
17551927
12.

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.

Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA.

Am J Med Genet A. 2008 Mar 1;146A(5):636-43.

PMID:
17334992
13.

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
14.

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.

PMID:
23709095
15.

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.

Am J Med Genet A. 2005 Oct 1;138A(2):175-80. Review.

PMID:
16152635
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.

17.

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

Juyal RC, Kuwano A, Kondo I, Zara F, Baldini A, Patel PI.

Am J Med Genet. 1996 Dec 11;66(2):193-6.

PMID:
8958329
18.

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.

PMID:
24357149
19.

dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome.

Davidsson J, Jahnke K, Forsgren M, Collin A, Soller M.

Obesity (Silver Spring). 2010 Mar;18(3):580-7. doi: 10.1038/oby.2009.298.

20.

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.

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