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Items: 1 to 20 of 113

1.

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

Carter TC, Sicko RJ, Kay DM, Browne ML, Romitti PA, Edmunds ZL, Liu A, Fan R, Druschel CM, Caggana M, Brody LC, Mills JL.

J Hum Genet. 2017 Oct;62(10):877-884. doi: 10.1038/jhg.2017.56. Epub 2017 May 25.

2.

Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.

Dai L, Deng Y, Li N, Xie L, Mao M, Zhu J.

BMC Med Genet. 2013 Apr 18;14:45. doi: 10.1186/1471-2350-14-45.

3.

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.

Shen Y, Si N, Liu Z, Liu F, Meng X, Zhang Y, Zhang X.

Orphanet J Rare Dis. 2018 Jul 3;13(1):106. doi: 10.1186/s13023-018-0838-y.

4.

Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation.

Cao L, Yang W, Wang S, Chen C, Zhang X, Luo Y.

Genet Test Mol Biomarkers. 2017 Jun;21(6):357-362. doi: 10.1089/gtmb.2016.0415. Epub 2017 Apr 19.

PMID:
28422522
5.

Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3.

Xiang R, Du R, Guo S, Jin JY, Fan LL, Tang JY, Zhou ZB.

Ann Clin Lab Sci. 2017 Nov;47(6):754-757.

PMID:
29263051
6.

Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.

Aziz A, Irfanullah, Khan S, Zimri FK, Muhammad N, Rashid S, Ahmad W.

Gene. 2014 Jan 25;534(2):265-71. doi: 10.1016/j.gene.2013.10.047. Epub 2013 Nov 5.

PMID:
24211389
7.

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P.

J Med Genet. 2010 Feb;47(2):103-11. doi: 10.1136/jmg.2008.065888. Epub 2009 Jul 6.

PMID:
19584065
8.

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.

Tayebi N, Jamsheer A, Flöttmann R, Sowinska-Seidler A, Doelken SC, Oehl-Jaschkowitz B, Hülsemann W, Habenicht R, Klopocki E, Mundlos S, Spielmann M.

Orphanet J Rare Dis. 2014 Jul 29;9:108. doi: 10.1186/s13023-014-0108-6.

9.

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
10.

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE.

Am J Med Genet A. 2006 Jul 1;140(13):1375-83.

PMID:
16761290
11.

[A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family].

Yang W, Hu ZJ, Yu XF, Li QH, Zhang AJ, Deng X, Zhang AY, Gao CS, Liu Y, Ao Y, Lo WH, Zhang X.

Zhonghua Yi Xue Za Zhi. 2006 Mar 14;86(10):652-8. Chinese.

PMID:
16681918
12.

[Analysis of genomic copy number variation for a Chinese patient with split hand/split foot malformation].

Chen Y, Li H, Tang S, Hu T, Du J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):774-7. doi: 10.3760/cma.j.issn.1003-9406.2014.06.021. Chinese.

PMID:
25449087
13.

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG.

Am J Hum Genet. 2001 Sep;69(3):481-92. Epub 2001 Jul 17.

14.

[Identification of a pathogenic microduplication in a Chinese split-hand/split-foot malformation family].

Liu Y, Huang Y, Yang W, Zhang X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):276-9. doi: 10.3760/cma.j.issn.1003-9406.2014.03.004. Chinese.

PMID:
24928001
15.

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.

16.

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

Sowińska-Seidler A, Socha M, Jamsheer A.

J Appl Genet. 2014 Feb;55(1):105-15. doi: 10.1007/s13353-013-0178-5. Epub 2013 Oct 27. Review.

17.

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.

18.

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
19.

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.

Bens S, Haake A, Tönnies H, Vater I, Stephani U, Holterhus PM, Siebert R, Caliebe A.

Eur J Med Genet. 2011 Sep-Oct;54(5):e501-4. doi: 10.1016/j.ejmg.2011.05.004. Epub 2011 Jun 7.

PMID:
21700002
20.

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE.

Hum Mol Genet. 2003 Aug 15;12(16):1959-71.

PMID:
12913067

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