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126 results

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Page 1
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B. Szenker-Ravi E, et al. Among authors: gordon ct. Nat Genet. 2022 Jan;54(1):62-72. doi: 10.1038/s41588-021-00970-4. Epub 2021 Dec 13. Nat Genet. 2022. PMID: 34903892
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S. Benko S, et al. Among authors: gordon ct. Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22. Nat Genet. 2009. PMID: 19234473
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S. Benko S, et al. Among authors: gordon ct. J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2. J Med Genet. 2011. PMID: 22051515
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. J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173. J Med Genet. 2012. PMID: 23188108
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J. Lehalle D, et al. Among authors: gordon ct. Hum Mutat. 2014 Apr;35(4):478-85. doi: 10.1002/humu.22517. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24470203
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.
Gordon CT, Cunniff CM, Green GE, Zechi-Ceide RM, Johnson JM, Henderson A, Petit F, Kokitsu-Nakata NM, Guion-Almeida ML, Munnich A, Cunningham ML, Lyonnet S, Amiel J. Gordon CT, et al. Am J Med Genet A. 2014 Jul;164A(7):1850-3. doi: 10.1002/ajmg.a.36505. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677549 No abstract available.
126 results