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Items: 1 to 20 of 111

1.

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A.

Eur J Hum Genet. 2005 Apr;13(4):409-13.

2.

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG.

Eur J Hum Genet. 2005 May;13(5):528-40.

3.

WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.

Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW.

Am J Med Genet A. 2006 Jun 1;140(11):1214-8.

PMID:
16646034
4.

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ.

Am J Hum Genet. 1996 Apr;58(4):734-42.

5.

The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

Sohn YB, Yim SY, Cho EH, Kim OH.

J Korean Med Sci. 2015 Feb;30(2):214-7. doi: 10.3346/jkms.2015.30.2.214. Epub 2015 Jan 21.

6.

Congenital diaphragmatic hernia in WAGR syndrome.

Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW.

Am J Med Genet A. 2005 May 1;134(4):430-3. Review.

PMID:
15779010
7.

Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.

Hall CR, Wu Y, Shaffer LG, Hecht JT.

Clin Genet. 2001 Nov;60(5):356-9.

PMID:
11903336
8.

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.

Almind GJ, Brøndum-Nielsen K, Bangsgaard R, Baekgaard P, Grønskov K.

Mol Cytogenet. 2009 Feb 17;2:6. doi: 10.1186/1755-8166-2-6.

9.

Molecular and clinical examination of an Italian DEFECT11 family.

Wuyts W, Di Gennaro G, Bianco F, Wauters J, Morocutti C, Pierelli F, Bossuyt P, Van Hul W, Casali C.

Eur J Hum Genet. 1999 Jul;7(5):579-84.

10.

Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.

McCool C, Spinks-Franklin A, Noroski LM, Potocki L.

Am J Med Genet A. 2017 Mar;173(3):716-720. doi: 10.1002/ajmg.a.37988. Epub 2017 Jan 27.

PMID:
28127865
11.

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG.

Am J Hum Genet. 2000 Nov;67(5):1327-32. Epub 2000 Oct 3.

12.

Brain-derived neurotrophic factor and obesity in the WAGR syndrome.

Han JC, Liu QR, Jones M, Levinn RL, Menzie CM, Jefferson-George KS, Adler-Wailes DC, Sanford EL, Lacbawan FL, Uhl GR, Rennert OM, Yanovski JA.

N Engl J Med. 2008 Aug 28;359(9):918-27. doi: 10.1056/NEJMoa0801119. Erratum in: N Engl J Med. 2008 Sep 25;359(13):1414.

13.

Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.

Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL.

Am J Med Genet A. 2005 Mar 1;133A(2):180-3.

PMID:
15666301
14.

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.

Brémond-Gignac D, Gérard-Blanluet M, Copin H, Bitoun P, Baumann C, Crolla JA, Benzacken B, Verloes A.

Am J Med Genet A. 2005 May 1;134(4):422-5.

PMID:
15779023
15.

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

McGaughran JM, Ward HB, Evans DG.

J Med Genet. 1995 Oct;32(10):823-4. No abstract available.

16.

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.

Crolla JA, Cawdery JE, Oley CA, Young ID, Gray J, Fantes J, van Heyningen V.

J Med Genet. 1997 Mar;34(3):207-12.

17.

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.

Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.

PMID:
23239541
18.

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

Labonne JD, Vogt J, Reali L, Kong IK, Layman LC, Kim HG.

Am J Med Genet A. 2015 Dec;167A(12):3011-8. doi: 10.1002/ajmg.a.37344. Epub 2015 Sep 3.

PMID:
26333423
20.

Burning down DEFECT11.

Wuyts W, Van Hul W, Bartsch O, Wilkie AO, Meinecke P.

Am J Med Genet. 2001 May 15;100(4):331-5. No abstract available.

PMID:
11343325

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