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99 results

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Page 1
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F. Otto EA, et al. Among authors: saunier s. Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12. Nat Genet. 2010. PMID: 20835237 Free PMC article.
Nephronophthisis.
Saunier S, Salomon R, Antignac C. Saunier S, et al. Curr Opin Genet Dev. 2005 Jun;15(3):324-31. doi: 10.1016/j.gde.2005.04.012. Curr Opin Genet Dev. 2005. PMID: 15917209 Review.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. Delous M, et al. Among authors: saunier s. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558409
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Wolf MT, et al. Among authors: saunier s. Kidney Int. 2007 Dec;72(12):1520-6. doi: 10.1038/sj.ki.5002630. Epub 2007 Oct 24. Kidney Int. 2007. PMID: 17960139 Free article.
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG. Valente EM, et al. Among authors: saunier s. Nat Genet. 2010 Jul;42(7):619-25. doi: 10.1038/ng.594. Epub 2010 May 30. Nat Genet. 2010. PMID: 20512146 Free PMC article.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Otto EA, et al. Among authors: saunier s. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program; Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. Davis EE, et al. Among authors: saunier s. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258341 Free PMC article.
99 results