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Items: 16

1.

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.

2.

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.

3.

Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.

Matsumaru D, Haraguchi R, Moon AM, Satoh Y, Nakagata N, Yamamura K, Takahashi N, Kitazawa S, Yamada G.

Eur J Hum Genet. 2014 Mar;22(3):350-7. doi: 10.1038/ejhg.2013.160. Epub 2013 Aug 14.

4.

An enlarged parietal foramen in the late archaic Xujiayao 11 neurocranium from Northern China, and rare anomalies among Pleistocene Homo.

Wu XJ, Xing S, Trinkaus E.

PLoS One. 2013;8(3):e59587. doi: 10.1371/journal.pone.0059587. Epub 2013 Mar 18.

5.

Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.

Palka C, Alfonsi M, Mohn A, Guanciali Franchi P, Chiarelli F, Calabrese G.

Mol Syndromol. 2012 Apr;2(6):259-261. Epub 2012 Apr 27.

6.

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.

7.

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.

Jennes I, de Jong D, Mees K, Hogendoorn PC, Szuhai K, Wuyts W.

BMC Med Genet. 2011 Jun 26;12:85. doi: 10.1186/1471-2350-12-85.

8.

Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.

Hameetman L, Bovée JV, Taminiau AH, Kroon HM, Hogendoorn PC.

Hered Cancer Clin Pract. 2004 Nov 15;2(4):161-73. doi: 10.1186/1897-4287-2-4-161.

9.

Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypes.

Favor J, Bradley A, Conte N, Janik D, Pretsch W, Reitmeir P, Rosemann M, Schmahl W, Wienberg J, Zaus I.

Genetics. 2009 Aug;182(4):1077-88. doi: 10.1534/genetics.109.104562. Epub 2009 May 27.

10.

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.

12.

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.

13.

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W.

J Med Genet. 2000 Dec;37(12):916-20.

14.

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.

15.

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP.

Am J Hum Genet. 1997 Sep;61(3):520-8.

16.

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