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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 1
1971 1
1972 1
1973 5
1975 1
1976 1
1977 4
1978 5
1979 4
1980 4
1981 5
1982 6
1983 3
1984 4
1985 8
1986 4
1987 9
1988 1
1989 5
1990 7
1991 1
1992 4
1993 6
1994 9
1995 8
1996 9
1997 12
1998 8
1999 5
2000 9
2001 9
2002 15
2003 6
2004 6
2005 7
2006 8
2007 11
2008 9
2009 14
2010 16
2011 11
2012 3
2013 10
2014 11
2015 4
2016 3
2018 4
2019 4
2020 5
2021 2
2022 2
2023 2
2024 1
2025 1

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291 results

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Page 1
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L. Morinière V, et al. Among authors: gubler mc. J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22. J Am Soc Nephrol. 2014. PMID: 24854265 Free PMC article.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Sharp AM, et al. Among authors: gubler mc. J Med Genet. 2005 Apr;42(4):336-49. doi: 10.1136/jmg.2004.024489. J Med Genet. 2005. PMID: 15805161 Free PMC article. No abstract available.
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.
Renal tubular dysgenesis.
Gubler MC. Gubler MC. Pediatr Nephrol. 2014 Jan;29(1):51-9. doi: 10.1007/s00467-013-2480-1. Epub 2013 May 1. Pediatr Nephrol. 2014. PMID: 23636579 Review.
Familial juvenile nephronophthisis.
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C. Konrad M, et al. Among authors: gubler mc. J Mol Med (Berl). 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. J Mol Med (Berl). 1998. PMID: 9587065 Review.
The renal inflammatory network of nephronophthisis.
Quatredeniers M, Bienaimé F, Ferri G, Isnard P, Porée E, Billot K, Birgy E, Mazloum M, Ceccarelli S, Silbermann F, Braeg S, Nguyen-Khoa T, Salomon R, Gubler MC, Kuehn EW, Saunier S, Viau A. Quatredeniers M, et al. Among authors: gubler mc. Hum Mol Genet. 2022 Jul 7;31(13):2121-2136. doi: 10.1093/hmg/ddac014. Hum Mol Genet. 2022. PMID: 35043953 Free article.
WT1 and glomerular diseases.
Niaudet P, Gubler MC. Niaudet P, et al. Among authors: gubler mc. Pediatr Nephrol. 2006 Nov;21(11):1653-60. doi: 10.1007/s00467-006-0208-1. Epub 2006 Aug 23. Pediatr Nephrol. 2006. PMID: 16927106 Review.
Genetics of the nephrotic syndrome.
Salomon R, Gubler MC, Niaudet P. Salomon R, et al. Among authors: gubler mc. Curr Opin Pediatr. 2000 Apr;12(2):129-34. doi: 10.1097/00008480-200004000-00008. Curr Opin Pediatr. 2000. PMID: 10763762 Review.
291 results