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Items: 1 to 20 of 415

1.

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.

2.

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.

3.

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
4.

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.

6.

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
7.

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
8.

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.

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.

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
11.

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.

Wuyts W, Waeber G, Meinecke P, Schüler H, Goecke TO, Van Hul W, Bartsch O.

Eur J Hum Genet. 2004 May;12(5):400-6. Review.

12.

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
13.

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.

14.

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
15.

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
16.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432
17.

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
18.

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.

Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F.

Am J Med Genet. 1993 Mar 1;45(5):581-3.

PMID:
8456828
19.

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.

Schoumans J, Staaf J, Jönsson G, Rantala J, Zimmer KS, Borg A, Nordenskjöld M, Anderlid BM.

Eur J Med Genet. 2005 Jul-Sep;48(3):290-300.

PMID:
16179224
20.

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG.

Am J Med Genet A. 2003 Dec 15;123A(3):236-42.

PMID:
14608643

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