PMC Articles for MedGen (Select 440845) - PMC

Select item 83482431.

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report

Siham Chafai Elalaoui, Nawfal Fejjal, Yun Li, Holger Thiele, Janine Altmüller, Soukaina Guaoua, Peter Nürnberg, Bernd Wollnik, Abdelaziz Sefiani, Ilham Ratbi

Pan Afr Med J. 2021; 39: 21. Published online 2021 May 7. doi: 10.11604/pamj.2021.39.21.26176

PMCID:: PMC8348243

Abstract Article PDF–461K

Select item 64606372.

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 63249353.

Bhlha9 regulates apical ectodermal ridge formation during limb development

Kensuke Kataoka, Takahide Matsushima, Yoshiaki Ito, Tempei Sato, Shigetoshi Yokoyama, Hiroshi Asahara

J Bone Miner Metab. Author manuscript; available in PMC 2019 Jan 8.

Published in final edited form as: J Bone Miner Metab. 2018 Jan; 36(1): 64–72. Published online 2017 Mar 21. doi: 10.1007/s00774-017-0820-0

PMCID:: PMC6324935

Abstract Article PDF–2.0M

Select item 77145694.

A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation

Hao Geng, Dongdong Tang, Chuan Xu, Xiaojin He, Zhiguo Zhang

Biomed Res Int. 2020; 2020: 4215632. Published online 2020 Nov 26. doi: 10.1155/2020/4215632

PMCID:: PMC7714569

Abstract Article PDF–849K

Select item 68711715.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

Kaori Yamoto, Hirotomo Saitsu, Gen Nishimura, Rika Kosaki, Shinichiro Takayama, Nobuhiko Haga, Hidefumi Tonoki, Akihisa Okumura, Emiko Horii, Nobuhiko Okamoto, Hiroshi Suzumura, Shiro Ikegawa, Fumiko Kato, Yasuko Fujisawa, Eiko Nagata, Shuji Takada, Maki Fukami, Tsutomu Ogata

Eur J Hum Genet. 2019 Dec; 27(12): 1845–1857. Published online 2019 Jul 22. doi: 10.1038/s41431-019-0473-7

PMCID:: PMC6871171

Abstract Article PDF–3.2M

Select item 47436926.

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 39635517.

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

Abstract Article PDF–1.5M

Select item 39096218.

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

Abstract Article PDF–454K

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