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Items: 1 to 20 of 99

1.

Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.

Romeike BF, Shen Y, Nishimoto HK, Morton CC, Layman LC, Kim HG.

Clin Neuropathol. 2014 May-Jun;33(3):238-44. No abstract available.

2.

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.

3.

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
4.

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
5.

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

Ferrarini A, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D.

Am J Med Genet A. 2014 Feb;164A(2):346-52. doi: 10.1002/ajmg.a.36140. Epub 2013 Dec 13.

PMID:
24376213
6.

Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

Ogle RF, Dalzell P, Turner G, Wass D, Yip MY.

J Med Genet. 1991 Dec;28(12):881-3.

7.

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.

8.

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome.

Ligon AH, Potocki L, Shaffer LG, Stickens D, Evans GA.

Am J Med Genet. 1998 Feb 17;75(5):538-40. No abstract available.

PMID:
9489802
9.

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
10.

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
11.

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.

Wuyts W, Roland D, Lüdecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L.

Am J Med Genet. 2002 Dec 15;113(4):326-32.

PMID:
12457403
12.

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.

13.

Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.

Romeike BF, Wuyts W.

Clin Neuropathol. 2007 Jan-Feb;26(1):1-11. Review.

PMID:
17290930
14.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF.

Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5.

15.

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.

16.

Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11.

Blanton SH, Hogue D, Wagner M, Wells D, Young ID, Hecht JT.

Am J Med Genet. 1996 Mar 15;62(2):150-9.

PMID:
8882395
17.

Langer-Giedion syndrome with del 8 (q24.13-q24.22).

Okuno T, Inoue A, Asakura T, Nakao S.

Clin Genet. 1987 Jul;32(1):40-5.

PMID:
3502694
18.

Congenital biparietal foramina presenting with multiple concussions.

Abdul Jalil MF, Russell J, Delatycki M, Gonzalvo A.

Clin Neurol Neurosurg. 2016 Jun;145:6-7. doi: 10.1016/j.clineuro.2016.03.013. Epub 2016 Mar 21.

PMID:
27058439
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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