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Items: 1 to 20 of 121

1.

A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.

Velinov M, Ahmad A, Brown-Kipphut B, Shafiq M, Blau J, Cooma R, Roth P, Iqbal MA.

Am J Med Genet A. 2012 Dec;158A(12):3201-6. doi: 10.1002/ajmg.a.35644. Epub 2012 Nov 20.

PMID:
23169702
2.

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.

Rattanasopha S, Tongkobpetch S, Srichomthong C, Kitidumrongsook P, Suphapeetiporn K, Shotelersuk V.

J Med Genet. 2014 Dec;51(12):817-23. doi: 10.1136/jmedgenet-2014-102576. Epub 2014 Oct 20.

PMID:
25332435
3.

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V.

Am J Med Genet A. 2007 Feb 15;143(4):333-7.

PMID:
17230488
4.

Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.

Vera-Carbonell A, Moya-Quiles MR, Ballesta-Martínez M, López-González V, Bafallíu JA, Guillén-Navarro E, López-Expósito I.

Gene. 2012 Apr 15;497(2):292-7. doi: 10.1016/j.gene.2012.01.088. Epub 2012 Feb 9.

PMID:
22342398
5.

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC.

Hum Mol Genet. 1996 May;5(5):571-9.

PMID:
8733122
6.

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Sowińska-Seidler A, Badura-Stronka M, Latos-Bieleńska A, Stronka M, Jamsheer A.

Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):764-71. doi: 10.1002/bdra.23298. Epub 2014 Sep 5.

PMID:
25196357
7.

Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.

Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N.

Am J Med Genet A. 2009 Jun;149A(6):1224-30. doi: 10.1002/ajmg.a.32877.

PMID:
19449426
8.

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.

Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, Turner CL, Weedon MN, Ellard S.

J Med Genet. 2014 Apr;51(4):264-7. doi: 10.1136/jmedgenet-2013-102142. Epub 2014 Jan 23.

9.

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND.

Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2.

PMID:
26839112
10.

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

van Silfhout AT, van den Akker PC, Dijkhuizen T, Verheij JB, Olderode-Berends MJ, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.

Eur J Hum Genet. 2009 Nov;17(11):1432-8. doi: 10.1038/ejhg.2009.72. Epub 2009 Apr 29.

11.

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.

Shamseldin HE, Faden MA, Alashram W, Alkuraya FS.

J Med Genet. 2012 Jan;49(1):16-20. doi: 10.1136/jmedgenet-2011-100556. Epub 2011 Nov 25.

PMID:
22121204
12.

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects.

Lo Iacono N, Mantero S, Chiarelli A, Garcia E, Mills AA, Morasso MI, Costanzo A, Levi G, Guerrini L, Merlo GR.

Development. 2008 Apr;135(7):1377-88. doi: 10.1242/dev.011759.

13.

Mouse model of split hand/foot malformation type I.

Merlo GR, Paleari L, Mantero S, Genova F, Beverdam A, Palmisano GL, Barbieri O, Levi G.

Genesis. 2002 Jun;33(2):97-101.

PMID:
12112878
14.

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

Kouwenhoven EN, van Heeringen SJ, Tena JJ, Oti M, Dutilh BE, Alonso ME, de la Calle-Mustienes E, Smeenk L, Rinne T, Parsaulian L, Bolat E, Jurgelenaite R, Huynen MA, Hoischen A, Veltman JA, Brunner HG, Roscioli T, Oates E, Wilson M, Manzanares M, Gómez-Skarmeta JL, Stunnenberg HG, Lohrum M, van Bokhoven H, Zhou H.

PLoS Genet. 2010 Aug 19;6(8):e1001065. doi: 10.1371/journal.pgen.1001065.

15.
16.

Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.

Suzuki K, Haraguchi R, Ogata T, Barbieri O, Alegria O, Vieux-Rochas M, Nakagata N, Ito M, Mills AA, Kurita T, Levi G, Yamada G.

Eur J Hum Genet. 2008 Jan;16(1):36-44. Epub 2007 Sep 19.

17.
18.

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).

Brown KK, Reiss JA, Crow K, Ferguson HL, Kelly C, Fritzsch B, Morton CC.

Hum Genet. 2010 Jan;127(1):19-31. doi: 10.1007/s00439-009-0736-4.

19.

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q.

Eur J Hum Genet. 2014 Sep;22(9):1105-10. doi: 10.1038/ejhg.2014.7. Epub 2014 Feb 5.

20.

A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.

Ramos-Zaldívar HM, Martínez-Irías DG, Espinoza-Moreno NA, Napky-Rajo JS, Bueso-Aguilar TA, Reyes-Perdomo KG, Montes-Gambarelli JA, Euceda IM, Ponce-Barahona AF, Gámez-Fernández CA, Moncada-Arita WA, Palomo-Bermúdez VA, Jiménez-Faraj JE, Hernández-Padilla AG, Olivera DA, Robertson KJ, Leiva-Sanchez LA, Herrera-Paz EF.

J Med Case Rep. 2016 Jun 13;10(1):156. doi: 10.1186/s13256-016-0921-8.

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