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Select item 29866771.

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

Anneke T van Silfhout, Peter C van den Akker, Trijnie Dijkhuizen, Joke B G M Verheij, Maran J W Olderode-Berends, Klaas Kok, Birgit Sikkema-Raddatz, Conny M A van Ravenswaaij-Arts

Eur J Hum Genet. 2009 Nov; 17(11): 1432–1438. Published online 2009 Apr 29. doi: 10.1038/ejhg.2009.72

PMCID:: PMC2986677

Article PDF–355K

Select item 42379472.

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

Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, Anna Sowinska-Seidler, Sandra C Doelken, Barbara Oehl-Jaschkowitz, Wiebke Hülsemann, Rolf Habenicht, Eva Klopocki, Stefan Mundlos, Malte Spielmann

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

PMCID:: PMC4237947

Article PDF–1.1M

Select item 29243053.

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

Evelyn N. Kouwenhoven, Simon J. van Heeringen, Juan J. Tena, Martin Oti, Bas E. Dutilh, M. Eva Alonso, Elisa de la Calle-Mustienes, Leonie Smeenk, Tuula Rinne, Lilian Parsaulian, Emine Bolat, Rasa Jurgelenaite, Martijn A. Huynen, Alexander Hoischen, Joris A. Veltman, Han G. Brunner, Tony Roscioli, Emily Oates, Meredith Wilson, Miguel Manzanares, José Luis Gómez-Skarmeta, Hendrik G. Stunnenberg, Marion Lohrum, Hans van Bokhoven, Huiqing Zhou

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

PMCID:: PMC2924305

Article PDF–2.7M

Select item 39635514.

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

Hana Lango Allen, Richard Caswell, Weijia Xie, Xiao Xu, Christopher Wragg, Peter D Turnpenny, Claire L S Turner, Michael N Weedon, Sian Ellard

J Med Genet. 2014 Apr; 51(4): 264–267. Published online 2014 Jan 23. doi: 10.1136/jmedgenet-2013-102142

PMCID:: PMC3963551

Article PDF–1.5M

Select item 35295765.

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Ramon Y. Birnbaum, David B. Everman, Karl K. Murphy, Fiorella Gurrieri, Charles E. Schwartz, Nadav Ahituv

Hum Mol Genet. 2012 Nov 15; 21(22): 4930–4938. Published online 2012 Aug 21. doi: 10.1093/hmg/dds336

PMCID:: PMC3529576

Article PDF–306K

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