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Page 1
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C; Société Française de Foetopathologie; Barbet J, Beaufrère AM, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR. Denamur E, et al. Among authors: gubler mc. Kidney Int. 2010 Feb;77(4):350-8. doi: 10.1038/ki.2009.440. Epub 2009 Nov 25. Kidney Int. 2010. PMID: 19940839 Free article.
Fetal toxic effects and angiotensin-II-receptor antagonists.
Martinovic J, Benachi A, Laurent N, Daikha-Dahmane F, Gubler MC. Martinovic J, et al. Among authors: gubler mc. Lancet. 2001 Jul 21;358(9277):241-2. doi: 10.1016/S0140-6736(01)05426-5. Lancet. 2001. PMID: 11480433 No abstract available.
In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.
Heidet L, Bongers EM, Sich M, Zhang SY, Loirat C, Meyrier A, Broyer M, Landthaler G, Faller B, Sado Y, Knoers NV, Gubler MC. Heidet L, et al. Among authors: gubler mc. Am J Pathol. 2003 Jul;163(1):145-55. doi: 10.1016/S0002-9440(10)63638-3. Am J Pathol. 2003. PMID: 12819019 Free PMC article.
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Among authors: gubler mc. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 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: gubler mc. Nat Genet. 2005 Sep;37(9):964-8. doi: 10.1038/ng1623. Epub 2005 Aug 14. Nat Genet. 2005. PMID: 16116425
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.
Lacoste M, Cai Y, Guicharnaud L, Mounier F, Dumez Y, Bouvier R, Dijoud F, Gonzales M, Chatten J, Delezoide AL, Daniel L, Joubert M, Laurent N, Aziza J, Sellami T, Amar HB, Jarnet C, Frances AM, Daïkha-Dahmane F, Coulomb A, Neuhaus TJ, Foliguet B, Chenal P, Marcorelles P, Gasc JM, Corvol P, Gubler MC. Lacoste M, et al. Among authors: gubler mc. J Am Soc Nephrol. 2006 Aug;17(8):2253-63. doi: 10.1681/ASN.2005121303. Epub 2006 Jun 21. J Am Soc Nephrol. 2006. PMID: 16790508
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie). Khaddour R, et al. Among authors: gubler mc. Hum Mutat. 2007 May;28(5):523-4. doi: 10.1002/humu.9489. Hum Mutat. 2007. PMID: 17397051
290 results