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Page 1
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C. Humbert C, et al. Among authors: roume j. Am J Hum Genet. 2014 Feb 6;94(2):288-94. doi: 10.1016/j.ajhg.2013.12.017. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439109 Free PMC article.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschké P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C. De Tomasi L, et al. Among authors: roume j. Am J Hum Genet. 2017 Nov 2;101(5):803-814. doi: 10.1016/j.ajhg.2017.09.026. Am J Hum Genet. 2017. PMID: 29100091 Free PMC article.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Reilly ML, Stokman MF, Magry V, Jeanpierre C, Alves M, Paydar M, Hellinga J, Delous M, Pouly D, Failler M, Martinovic J, Loeuillet L, Leroy B, Tantau J, Roume J, Gregory-Evans CY, Shan X, Filges I, Allingham JS, Kwok BH, Saunier S, Giles RH, Benmerah A. Reilly ML, et al. Among authors: roume j. Hum Mol Genet. 2019 Mar 1;28(5):778-795. doi: 10.1093/hmg/ddy381. Hum Mol Genet. 2019. PMID: 30388224 Free PMC article.
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Gribouval O, et al. Among authors: roume j. Nat Genet. 2005 Sep;37(9):964-8. doi: 10.1038/ng1623. Epub 2005 Aug 14. Nat Genet. 2005. PMID: 16116425
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T. Baala L, et al. Among authors: roume j. Am J Hum Genet. 2007 Jul;81(1):170-9. doi: 10.1086/519494. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17564974 Free PMC article.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C. Heidet L, et al. Among authors: roume j. J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31. J Am Soc Nephrol. 2017. PMID: 28566479 Free PMC article.
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T. Mougou-Zerelli S, et al. Among authors: roume j. Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116. Hum Mutat. 2009. PMID: 19777577 Free PMC article.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V. El Hokayem J, et al. Among authors: roume j. J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717. J Med Genet. 2012. PMID: 22499340
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.
El Malti R, Liu H, Doray B, Thauvin C, Maltret A, Dauphin C, Gonçalves-Rocha M, Teboul M, Blanchet P, Roume J, Gronier C, Ducreux C, Veyrier M, Marçon F, Acar P, Lusson JR, Levy M, Beyler C, Vigneron J, Cordier-Alex MP, Heitz F, Sanlaville D, Bonnet D, Bouvagnet P. El Malti R, et al. Among authors: roume j. Eur J Hum Genet. 2016 Feb;24(2):228-36. doi: 10.1038/ejhg.2015.105. Epub 2015 May 27. Eur J Hum Genet. 2016. PMID: 26014430 Free PMC article.
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: roume j. 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.
89 results