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Page 1
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM. Fares-Taie L, et al. Among authors: baumann c. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. Am J Hum Genet. 2013. PMID: 23312594 Free PMC article.
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Perrault I, et al. Among authors: baumann c. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Moutton S, et al. Among authors: baumann c. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193221
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Among authors: baumann c. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L. Carmignac V, et al. Among authors: baumann c. Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25. Am J Hum Genet. 2012. PMID: 23103230 Free PMC article.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J. Gordon CT, et al. Among authors: baumann c. J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173. J Med Genet. 2012. PMID: 23188108
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Willems M, et al. Among authors: baumann c. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29. J Med Genet. 2010. PMID: 19643772 Free article.
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: baumann c. Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19225462 Free PMC article.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J. Laquérriere A, et al. Among authors: baumann c. Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6. Hum Mol Genet. 2014. PMID: 24319099
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, Dieux Coeslier A, Doray B, Dulac O, Drouin-Garraud V, Gérard M, Héron D, Isidor B, Lacombe D, Lyonnet S, Perrin L, Rio M, Roume J, Sauvion S, Toutain A, Vincent-Delorme C, Willems M, Baumann C, Verloes A. Cavé H, et al. Among authors: baumann c. Eur J Hum Genet. 2016 Aug;24(8):1124-31. doi: 10.1038/ejhg.2015.273. Epub 2016 Jan 13. Eur J Hum Genet. 2016. PMID: 26757980 Free PMC article.
1,178 results