PMC Articles for MedGen (Select 338277) - PMC

Select item 39096211.

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

Anna Sowińska-Seidler, Magdalena Socha, Aleksander Jamsheer

J Appl Genet. 2014; 55(1): 105–115. Published online 2013 Oct 27. doi: 10.1007/s13353-013-0178-5

PMCID:: PMC3909621

Select item 32149502.

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

A. Theisen, J.A. Rosenfeld, K. Shane, K.L. McBride, J.F. Atkin, C. Gaba, J. Hoo, T.W. Kurczynski, R.E. Schnur, L.B. Coffey, E.H. Zackai, L. Schimmenti, N. Friedman, M. Zabukovec, S. Ball, R. Pagon, A. Lucas, C.K. Brasington, J.E. Spence, S. Sparks, V. Banks, W. Smith, T. Friedberg, P.R. Wyatt, M. Aust, R. Tervo, A. Crowley, D. Skidmore, A.N. Lamb, B. Ravnan, T. Sahoo, R. Schultz, B.S. Torchia, M. Sgro, D. Chitayat, L.G. Shaffer

Mol Syndromol. 2011 May; 1(5): 262–271. Published online 2011 May 18. doi: 10.1159/000328405

PMCID:: PMC3214950

Abstract Article PDF–352K

Select item 64606373.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anna Sowinska-Seidler, Magdalena Socha, Anna Jakubiuk-Tomaszuk, Marion Gerard, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Alain Verloes, Annick Toutain, Ghislaine Plessis, Philippe Jonveaux, Clarisse Baumann, Albert David, Chantal Farra, Estelle Colin, Sébastien Jacquemont, Annick Rossi, Sahar Mansour, Neeti Ghali, Anne Moncla, Nayana Lahiri, Jane Hurst, Elena Pollina, Christine Patch, Joo Wook Ahn, Anne-Sylvie Valat, Aurélie Mezel, Philippe Bourgeot, David Zhang, Sylvie Manouvrier-Hanu

Eur J Hum Genet. 2019 Apr; 27(4): 525–534. Published online 2019 Jan 8. doi: 10.1038/s41431-018-0326-9

PMCID:: PMC6460637

Abstract Article PDF–1.2M

Select item 47436924.

The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6^−/− shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligand

Daniele Conte, Giulia Garaffo, Nadia Lo Iacono, Stefano Mantero, Stefano Piccolo, Michelangelo Cordenonsi, David Perez-Morga, Valeria Orecchia, Valeria Poli, Giorgio R. Merlo

Hum Mol Genet. 2016 Feb 15; 25(4): 740–754. Published online 2015 Dec 18. doi: 10.1093/hmg/ddv514

PMCID:: PMC4743692

Abstract Article PDF–1.2M

Select item 44304665.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew A. Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gerard, Juliane Leger, Valérie Drouin-Garraud, Hervé Lefebvre, Michel Polak, Jean-Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolas de Roux, Nelly Pitteloud

Genet Med. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Genet Med. 2015 Aug; 17(8): 651–659. Published online 2014 Nov 13. doi: 10.1038/gim.2014.166

PMCID:: PMC4430466

Abstract Article PDF–739K

Select item 33448286.

Analysis of Large Phenotypic Variability of EEC and SHFM4 Syndromes Caused by K193E Mutation of the TP63 Gene

Jianhua Wei, Yang Xue, Lian Wu, Jie Ma, Xiuli Yi, Junrui Zhang, Bin Lu, Chunying Li, Dashuang Shi, Songtao Shi, Xinghua Feng, Tao Cai

PLoS One. 2012; 7(5): e35337. Published online 2012 May 4. doi: 10.1371/journal.pone.0035337

PMCID:: PMC3344828

Abstract Article PDF–506K

Select item 30493517.

Identification of direct downstream targets of Dlx5 during early inner ear development

Samin A. Sajan, John L.R. Rubenstein, Mark E. Warchol, Michael Lovett

Hum Mol Genet. 2011 Apr 1; 20(7): 1262–1273. Published online 2011 Jan 12. doi: 10.1093/hmg/ddq567

PMCID:: PMC3049351

Abstract Article PDF–257K

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