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Page 1
Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Büscher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wühl E, Dötsch J, Schaefer F, Liebau MC. Burgmaier K, et al. Sci Rep. 2019 May 28;9(1):7919. doi: 10.1038/s41598-019-43488-w. Sci Rep. 2019. PMID: 31138820 Free PMC article.
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. 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.
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Courcet JB, Minello A, Prieur F, Morisse L, Phelip JM, Beurdeley A, Meynard D, Massenet D, Lacassin F, Duffourd Y, Gigot N, St-Onge J, Hillon P, Vanlemmens C, Mousson C, Cerceuil JP, Guiu B, Thevenon J, Thauvin-Robinet C, Jacquemin E, Rivière JB, Michel-Calemard L, Faivre L. Courcet JB, et al. Am J Med Genet A. 2015 Dec;167A(12):3046-53. doi: 10.1002/ajmg.a.37352. Epub 2015 Sep 8. Am J Med Genet A. 2015. PMID: 26385851
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Duval H, Michel-Calemard L, Gonzales M, Loget P, Beneteau C, Buenerd A, Joubert M, Denis-Musquer M, Clemenson A, Chesnais AL, Blesson S, De Pinieux I, Delezoide AL, Bonyhay G, Bellanné-Chantelot C, Heidet L, Dupré F, Collardeau-Frachon S. Duval H, et al. Prenat Diagn. 2016 Aug;36(8):744-51. doi: 10.1002/pd.4858. Epub 2016 Jul 6. Prenat Diagn. 2016. PMID: 27297286 Free article.
School level of children carrying a HNF1B variant or a deletion.
Laliève F, Decramer S, Heidet L, Baudouin V, Lahoche A, Llanas B, Cochat P, Tenenbaum J, Lavocat MP, Eckart P, Broux F, Roussey G, Cloarec S, Vrillon I, Dunand O, Bessenay L, Tsimaratos M, Nobili F, Pietrement C, De Parscau L, Bonneville V, Rodier N, Saint-Martin C, Chassaing N, Michel-Calemard L, Moriniere V, Bellanné-Chantelot C, Bahans C, Guigonis V. Laliève F, et al. Among authors: michel calemard l. Eur J Hum Genet. 2020 Jan;28(1):56-63. doi: 10.1038/s41431-019-0490-6. Epub 2019 Sep 3. Eur J Hum Genet. 2020. PMID: 31481685 Free PMC article.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, Schaefer E, Scheidecker S, Lambert L, Beneteau C, Patat O, Boute-Benejean O, Molin A, Guimiot F, Fontanarosa N, Nizon M, Lefebvre M, Jeanpierre C, Saunier S, Heidet L. Jordan P, et al. Among authors: michel calemard l. Hum Mutat. 2022 Mar;43(3):347-361. doi: 10.1002/humu.24324. Epub 2022 Jan 10. Hum Mutat. 2022. PMID: 35005812
36 results