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Page 1
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics; Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. Petrovski S, et al. Among authors: corre p. Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108799 Free PMC article.
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study; Devriendt K, Breckpot J. Verheije R, et al. Among authors: corre p. Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291340 Free PMC article.
Familial autosomal dominant severe ankyloglossia with tooth abnormalities.
Lenormand A, Khonsari R, Corre P, Perrin JP, Boscher C, Nizon M, Pichon O, David A, Le Caignec C, Bertin H, Isidor B. Lenormand A, et al. Among authors: corre p. Am J Med Genet A. 2018 Jul;176(7):1614-1617. doi: 10.1002/ajmg.a.38690. Epub 2018 Apr 28. Am J Med Genet A. 2018. PMID: 29704302
Could pharyngeal fat injection be a first-line treatment of velopharyngeal insufficiency?
Diallo-Hornez G, Khonsari RH, Mercier JM, Delaire J, Balandier S, Defay V, Isidor B, Rousteau G, Talmant JC, Perrin JP, Bertin H, Corre P. Diallo-Hornez G, et al. Among authors: corre p. J Stomatol Oral Maxillofac Surg. 2022 Sep;123(4):e206-e211. doi: 10.1016/j.jormas.2021.11.007. Epub 2021 Nov 26. J Stomatol Oral Maxillofac Surg. 2022. PMID: 34844018 No abstract available.
265 results