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Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: dubourg c. Genet Med. 2021 Oct;23(10):2016. doi: 10.1038/s41436-021-01306-7. Genet Med. 2021. PMID: 34522029 Free article. No abstract available.
Phenotypic and molecular variability of the holoprosencephalic spectrum.
Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintière AT, Aguilella C, David V, Odent S. Lazaro L, et al. Among authors: dubourg c. Am J Med Genet A. 2004 Aug 15;129A(1):21-4. doi: 10.1002/ajmg.a.30110. Am J Med Genet A. 2004. PMID: 15266610
Holoprosencephaly.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Dubourg C, et al. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. Orphanet J Rare Dis. 2007. PMID: 17274816 Free PMC article. Review.
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L. Quélin C, et al. Among authors: dubourg c. Eur J Med Genet. 2009 Jan-Feb;52(1):41-6. doi: 10.1016/j.ejmg.2008.10.002. Epub 2008 Oct 31. Eur J Med Genet. 2009. PMID: 19022413
Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.
Jaillard S, Loget P, Lucas J, Dubourg C, Le Bouar G, Demurger F, Bertorello I, David V, Poulain P, Odent S, Belaud-Rotureau MA. Jaillard S, et al. Among authors: dubourg c. Eur J Med Genet. 2011 Mar-Apr;54(2):186-8. doi: 10.1016/j.ejmg.2010.11.001. Epub 2010 Nov 27. Eur J Med Genet. 2011. PMID: 21115145
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L, Quélin C, Dupé V, David V, Odent S. Mercier S, et al. Among authors: dubourg c. J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21940735 Free PMC article.
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: dubourg c. 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.
140 results