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Page 1
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F. Bonnet C, et al. Among authors: francannet c. Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21. Orphanet J Rare Dis. 2011. PMID: 21569298 Free PMC article.
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabédian EN, Couderc R, Marlin S, Denoyelle F. Albert S, et al. Among authors: francannet c. Eur J Hum Genet. 2006 Jun;14(6):773-9. doi: 10.1038/sj.ejhg.5201611. Eur J Hum Genet. 2006. PMID: 16570074
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
Lévêque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baulande S, Pierron D, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF, Dollfus H, Eliot MM, Faivre L, Duvillard C, Couderc R, Garabedian EN, Petit C, Feldmann D, Denoyelle F. Lévêque M, et al. Among authors: francannet c. Eur J Hum Genet. 2007 Nov;15(11):1145-55. doi: 10.1038/sj.ejhg.5201891. Epub 2007 Jul 18. Eur J Hum Genet. 2007. PMID: 17637808
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H. Muller J, et al. Among authors: francannet c. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23. Hum Genet. 2010. PMID: 20177705 Free PMC article.
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
Jonard L, Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T, Thuillier-Obstoy MF, Couderc R, Garabédian EN, Denoyelle F, Marlin S. Jonard L, et al. Among authors: francannet c. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1049-53. doi: 10.1016/j.ijporl.2010.06.002. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20621367
At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study.
Sbidian E, Bastuji-Garin S, Valeyrie-Allanore L, Ferkal S, Lefaucheur JP, Drouet A, Brugière P, Vialette C, Combemale P, Barbarot S, Wolkenstein P; NF France Network. Sbidian E, et al. Orphanet J Rare Dis. 2011 Jul 13;6:51. doi: 10.1186/1750-1172-6-51. Orphanet J Rare Dis. 2011. PMID: 21752287 Free PMC article.
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V. Baujat G, et al. Among authors: francannet c. J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282. J Med Genet. 2013. PMID: 23339108
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Pingault V, Bodereau V, Baral V, Marcos S, Watanabe Y, Chaoui A, Fouveaut C, Leroy C, Vérier-Mine O, Francannet C, Dupin-Deguine D, Archambeaud F, Kurtz FJ, Young J, Bertherat J, Marlin S, Goossens M, Hardelin JP, Dodé C, Bondurand N. Pingault V, et al. Among authors: francannet c. Am J Hum Genet. 2013 May 2;92(5):707-24. doi: 10.1016/j.ajhg.2013.03.024. Am J Hum Genet. 2013. PMID: 23643381 Free PMC article.
Mutations in SETD2 cause a novel overgrowth condition.
Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V. Luscan A, et al. Among authors: francannet c. J Med Genet. 2014 Aug;51(8):512-7. doi: 10.1136/jmedgenet-2014-102402. Epub 2014 May 22. J Med Genet. 2014. PMID: 24852293
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A. Redin C, et al. Among authors: francannet c. J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28. J Med Genet. 2014. PMID: 25167861 Free PMC article.
150 results