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Results: 11

Cited In for PubMed (Select 15704124)

1.

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

Qi Z, Jeng LJ, Slavotinek A, Yu J.

BMC Med Genomics. 2015 Jul 15;8:38. doi: 10.1186/s12920-015-0113-1.

2.

A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.

Konya MN, Elmas M, Erginoğlu SE, Yeşil M.

Int J Surg Case Rep. 2015;7C:130-3. doi: 10.1016/j.ijscr.2014.10.098. Epub 2014 Nov 6.

3.

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome.

Friesen KJ, Chodirker BN, Chudley AE, Reed MH, Elliott AM.

Springerplus. 2013 Nov 7;2:594. doi: 10.1186/2193-1801-2-594. eCollection 2013.

4.

A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome.

Kim GN, Ki CS, Seo SW, Yoo JM, Han YS, Chung IY, Park JM, Kim SJ.

Mol Vis. 2013 Apr 30;19:935-43. Print 2013.

5.

Clinical expression of an inherited unbalanced translocation in chromosome 6.

Ganguly BB, Kadam V, Kadam NN.

Case Rep Genet. 2011;2011:396450. doi: 10.1155/2011/396450. Epub 2011 Sep 25.

6.

Consensus paper: pathological role of the cerebellum in autism.

Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP.

Cerebellum. 2012 Sep;11(3):777-807. doi: 10.1007/s12311-012-0355-9. Review.

7.

Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene.

McKeone R, Vieira H, Gregory-Evans K, Gregory-Evans CY, Denny P.

PLoS One. 2011;6(10):e25489. doi: 10.1371/journal.pone.0025489. Epub 2011 Oct 13.

8.

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ.

Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9.

9.

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Tümer Z, Bach-Holm D.

Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10. Review.

10.

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.

Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG.

Hum Genet. 2008 Apr;123(3):237-45. doi: 10.1007/s00439-008-0467-y. Epub 2008 Jan 19.

11.

Genetics of human hydrocephalus.

Zhang J, Williams MA, Rigamonti D.

J Neurol. 2006 Oct;253(10):1255-66. Epub 2006 Jun 13. Review.

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