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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski S, Retterer K… See abstract for full author list ➔ Küry S, et al. Among authors: boisseau p. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
Inherited 18q23 duplication in a fetus with multiple congenital anomalies.
Isidor B, Winer N, Joubert M, Boisseau P, Le Caignec C, Bocéno M, Fallet C, David A, Rival JM. Isidor B, et al. Among authors: boisseau p. Eur J Med Genet. 2008 May-Jun;51(3):231-8. doi: 10.1016/j.ejmg.2007.12.010. Epub 2008 Jan 12. Eur J Med Genet. 2008. PMID: 18282818
De novo duplication and deletions at 7q in a three-generation family.
Isidor B, Villa O, Pichon O, Briand A, Poulain D, Boisseau P, Pérez-Jurado LA, Le Caignec C. Isidor B, et al. Among authors: boisseau p. Am J Med Genet A. 2012 Jun;158A(6):1493-7. doi: 10.1002/ajmg.a.35332. Epub 2012 May 10. Am J Med Genet A. 2012. PMID: 22577094 No abstract available.
Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?
Isidor B, Le Meur G, Conti C, Caldagues E, Lainey E, Launay E, Leclair MD, Le Francois T, Pichon O, Boisseau P, Migraine A, Keren B, Le Caignec C, Crow YJ, David A. Isidor B, et al. Among authors: boisseau p. Am J Med Genet A. 2013 Aug;161A(8):1829-32. doi: 10.1002/ajmg.a.36021. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824919
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
Nizon M, Cogne B, Vallat JM, Joubert M, Liet JM, Simon L, Vincent M, Küry S, Boisseau P, Schmitt S, Mercier S, Bénéteau C, Larrose C, Coste M, Latypova X, Péréon Y, Mussini JM, Bézieau S, Isidor B. Nizon M, et al. Among authors: boisseau p. Eur J Hum Genet. 2017 Jan;25(1):150-152. doi: 10.1038/ejhg.2016.142. Epub 2016 Oct 26. Eur J Hum Genet. 2017. PMID: 27782105 Free PMC article.
A new mutation of ANO6 in two familial cases of Scott syndrome.
Boisseau P, Bene MC, Besnard T, Pachchek S, Giraud M, Talarmain P, Robillard N, Gourlaouen MA, Bezieau S, Fouassier M. Boisseau P, et al. Br J Haematol. 2018 Mar;180(5):750-752. doi: 10.1111/bjh.14439. Epub 2016 Nov 23. Br J Haematol. 2018. PMID: 27879994 Free article. No abstract available.
70 results