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Items: 1 to 20 of 175

1.

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
2.

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
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.

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.

5.

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.

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
7.

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.

8.

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
9.

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.

Bertola DR, Rodrigues MG, Quaio CR, Kim CA, Passos-Bueno MR.

Am J Med Genet A. 2013 Mar;161A(3):600-4. doi: 10.1002/ajmg.a.35762. Epub 2013 Feb 7.

PMID:
23401352
10.

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.

11.

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
12.

Mild nasal clefting may be predictive for ALX4 heterozygotes.

Altunoglu U, Satkın B, Uyguner ZO, Kayserili H.

Am J Med Genet A. 2014 Aug;164A(8):2054-8. doi: 10.1002/ajmg.a.36578. Epub 2014 Apr 24.

PMID:
24764194
13.

Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia.

Dee CT, Szymoniuk CR, Mills PE, Takahashi T.

Hum Mol Genet. 2013 Jan 15;22(2):239-51. doi: 10.1093/hmg/dds423. Epub 2012 Oct 11.

PMID:
23059813
14.

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.

15.

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
16.

Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice.

Beverdam A, Brouwer A, Reijnen M, Korving J, Meijlink F.

Development. 2001 Oct;128(20):3975-86.

17.

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
18.

Distinct phenotype of PHF6 deletions in females.

Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K.

Eur J Med Genet. 2014 Feb;57(2-3):85-9. doi: 10.1016/j.ejmg.2013.12.003. Epub 2013 Dec 28.

PMID:
24380767
19.

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO.

Nat Genet. 2001 Jan;27(1):17-8.

PMID:
11137991
20.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO.

Eur J Hum Genet. 2006 Feb;14(2):151-8.

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