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201 results

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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ; 99 Lives Consortium; Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B. Cogné B, et al. Among authors: debray d. Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7. Am J Hum Genet. 2020. PMID: 32386558 Free PMC article.
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
Girard M, Bizet AA, Lachaux A, Gonzales E, Filhol E, Collardeau-Frachon S, Jeanpierre C, Henry C, Fabre M, Viremouneix L, Galmiche L, Debray D, Bole-Feysot C, Nitschke P, Pariente D, Guettier C, Lyonnet S, Heidet L, Bertholet A, Jacquemin E, Henrion-Caude A, Saunier S. Girard M, et al. Among authors: debray d. Hum Mutat. 2016 Oct;37(10):1025-9. doi: 10.1002/humu.23031. Epub 2016 Aug 24. Hum Mutat. 2016. PMID: 27319779
CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille F, Cholet S, Ruel C, Caussé E, Selves J, Bridoux-Henno L, Woimant F, Dupré T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P, Bruneel A. Girard M, et al. Among authors: debray d. Mol Genet Metab. 2018 Jul;124(3):228-235. doi: 10.1016/j.ymgme.2018.05.002. Epub 2018 May 9. Mol Genet Metab. 2018. PMID: 29759592
SERPINA1 Z allele is associated with cystic fibrosis liver disease.
Boëlle PY, Debray D, Guillot L, Corvol H; French CF Modifier Gene Study Investigators. Boëlle PY, et al. Among authors: debray d. Genet Med. 2019 Sep;21(9):2151-2155. doi: 10.1038/s41436-019-0449-6. Epub 2019 Feb 11. Genet Med. 2019. PMID: 30739910 Free article.
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Couchonnal E, Bouchard S, Sandahl TD, Pagan C, Lion-François L, Guillaud O, Habes D, Debray D, Lamireau T, Broué P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Belmalih A, Poujois A, Brunet AS, Lachaux A, Bost M. Couchonnal E, et al. Among authors: debray d. Eur J Med Genet. 2021 Oct;64(10):104305. doi: 10.1016/j.ejmg.2021.104305. Epub 2021 Aug 13. Eur J Med Genet. 2021. PMID: 34400371
Widening spectrum of liver angiosarcoma in children.
Ackermann O, Fabre M, Franchi S, Pariente D, Debray D, Jacquemin E, Gauthier F, Bernard O. Ackermann O, et al. Among authors: debray d. J Pediatr Gastroenterol Nutr. 2011 Dec;53(6):615-9. doi: 10.1097/MPG.0b013e318230146c. J Pediatr Gastroenterol Nutr. 2011. PMID: 21832953
[Cholelithiasis in infants, children and adolescents].
Debray D, Franchi-Abella S, Irtan S, Girard M. Debray D, et al. Presse Med. 2012 May;41(5):466-73. doi: 10.1016/j.lpm.2011.09.018. Epub 2011 Nov 21. Presse Med. 2012. PMID: 22104483 Review. French.
Specificities of sclerosing cholangitis in childhood.
Girard M, Franchi-Abella S, Lacaille F, Debray D. Girard M, et al. Among authors: debray d. Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):530-5. doi: 10.1016/j.clinre.2012.04.003. Epub 2012 May 23. Clin Res Hepatol Gastroenterol. 2012. PMID: 22633198 Review.
201 results