Hand Deformities, Acquired research, articles, guidelines & medical evidence database search.
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All Pubmed data courtesy of the U.S. National Library of Medicine. Library last updated 20 December 2020.
Clinical trials databases last updated 1 December 2020 (clinicaltrials.gov) and 1 December 2020 (ictrp)
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Research
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Celli J, Duijf P, Hamel B C, Bamshad M, Kramer B ...
Cell Vol 99(2)
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Date 15 Oct 1999
Research
Cryo-EM Structure of Chikungunya Virus in Complex with the Mxra8 Receptor.
Basore Katherine, Kim Arthur S, Nelson Christopher A, Zhang Rong, Smith Brittany K ...
Cell Vol 177(7)
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Date 13 Jun 2019
Research
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Le Goff Carine, Mahaut Clémentine, Abhyankar Avinash, Le Goff Wilfried, Serre Valérie ...
Nature genetics Vol 44(1)
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Date 11 Dec 2011
Research
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
Le Goff Carine, Morice-Picard Fanny, Dagoneau Nathalie, Wang Lauren W, Perrot Claire ...
Nature genetics Vol 40(9)
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Date 01 Sep 2008
Research
A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.
Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M ...
Nature genetics Vol 6(4)
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Date 01 Apr 1994
Research
Mutation of HOXA13 in hand-foot-genital syndrome.
Mortlock D P, Innis J W
Nature genetics Vol 15(2)
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Date 01 Feb 1997
Research
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
Satoda M, Zhao F, Diaz G A, Burn J, Goodship J ...
Nature genetics Vol 25(1)
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Date 01 May 2000
Research
Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q.
Terrett J A, Newbury-Ecob R, Cross G S, Fenton I, Raeburn J A ...
Nature genetics Vol 6(4)
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Date 01 Apr 1994
Research
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux Audrey, Thomas Sophie, Coene Karlien L M, Davis Erica E, Alanay Yasemin ...
Nature genetics Vol 43(6)
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Date 01 Jun 2011
Research
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Santen Gijs W E, Aten Emmelien, Sun Yu, Almomani Rowida, Gilissen Christian ...
Nature genetics Vol 44(4)
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Date 18 Mar 2012
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