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51 results

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Page 1
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Among authors: thibert rl. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
Angelman syndrome in adulthood.
Larson AM, Shinnick JE, Shaaya EA, Thiele EA, Thibert RL. Larson AM, et al. Among authors: thibert rl. Am J Med Genet A. 2015 Feb;167A(2):331-44. doi: 10.1002/ajmg.a.36864. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25428759 Free PMC article.
Gastrointestinal problems in 15q duplication syndrome.
Shaaya EA, Pollack SF, Boronat S, Davis-Cooper S, Zella GC, Thibert RL. Shaaya EA, et al. Among authors: thibert rl. Eur J Med Genet. 2015 Mar;58(3):191-3. doi: 10.1016/j.ejmg.2014.12.012. Epub 2015 Jan 5. Eur J Med Genet. 2015. PMID: 25573720
Prevalence of gastrointestinal symptoms in Angelman syndrome.
Glassman LW, Grocott OR, Kunz PA, Larson AM, Zella G, Ganguli K, Thibert RL. Glassman LW, et al. Among authors: thibert rl. Am J Med Genet A. 2017 Oct;173(10):2703-2709. doi: 10.1002/ajmg.a.38401. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28816003
EEG features of 15q duplication syndrome.
Sheikh IS, Nascimento FA, Thiele E, Thibert R. Sheikh IS, et al. Epileptic Disord. 2022 Aug 1;24(4):735-736. doi: 10.1684/epd.2022.1447. Epileptic Disord. 2022. PMID: 35770771 English. No abstract available.
51 results