Multidisciplinary approach in diagnosis and treatment of Fong disease.

Autor: Gecheva, Nia A^1,2 (AUTHOR) gecheva_nia@abv.bg, Angelov, Valentin^1,2 (AUTHOR), Kaneva, Radka^3,4 (AUTHOR), Dikova, Milka^1,2 (AUTHOR)

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De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.

Autor: Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia., Lall P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia., Ayres S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia., Van Bergen NJ; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Australia., Christodoulou J; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Australia., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia., Kalitsis P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia.

Publikováno v: Clinical genetics [Clin Genet] 2024 Feb; Vol. 105 (2), pp. 214-219. Date of Electronic Publication: 2023 Oct 29.

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Effectiveness of the women's lacrosse protective eyewear mandate in the reduction of eye injuries.

Autor: Lincoln AE; MedStar Sports Medicine Research Center, Baltimore, Maryland, USA., Caswell SV, Almquist JL, Dunn RE, Clough MV, Dick RW, Hinton RY

Publikováno v: The American journal of sports medicine [Am J Sports Med] 2012 Mar; Vol. 40 (3), pp. 611-4. Date of Electronic Publication: 2011 Dec 08.

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.

Autor: Wu-Lin Charng, Nikolov, Momchil, Shrestha, Isabel, Seeley, Mark A., Josyula, Navya Shilpa, Justice, Anne E., Dobbs, Matthew B., Gurnett, Christina A.

Publikováno v: Journal of Medical Genetics; Jul2024, Vol. 61 Issue 7, p699-706, 21p