Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 31

1.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Brix Folsted Andersen C, Bergmann C, Antignac C, Simons M.

J Clin Invest. 2019 Oct 15. pii: 129937. doi: 10.1172/JCI129937. [Epub ahead of print]

2.

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.

Eur J Hum Genet. 2019 Sep 3. doi: 10.1038/s41431-019-0490-6. [Epub ahead of print]

PMID:
31481685
3.

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

Saskin A, Alfares A, Bernard C, Blumenkrantz M, Braverman N, Gupta I, Brosnihan KB, Antignac C, Gubler MC, Morinière V, De Bie I, Bitzan M.

Eur J Med Genet. 2019 Apr;62(4):254-258. doi: 10.1016/j.ejmg.2018.07.024. Epub 2018 Jul 31.

PMID:
30071301
4.

Treatment and outcome of congenital nephrotic syndrome.

Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, Bacchetta J, Boudaillez B, Dehennault M, de Parscau L, Dunand O, Flodrops H, Fila M, Garnier A, Louillet F, Macher MA, May A, Merieau E, Monceaux F, Pietrement C, Rousset-Rouvière C, Roussey G, Taque S, Tenenbaum J, Ulinski T, Vieux R, Zaloszyc A, Morinière V, Salomon R, Boyer O.

Nephrol Dial Transplant. 2019 Mar 1;34(3):458-467. doi: 10.1093/ndt/gfy015.

PMID:
29474669
5.

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.

J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31.

6.

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.

Jávorszky E, Morinière V, Kerti A, Balogh E, Pikó H, Saunier S, Karcagi V, Antignac C, Tory K.

Clin Chem Lab Med. 2017 May 1;55(6):809-816. doi: 10.1515/cclm-2016-0819.

PMID:
28002029
7.

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Audrézet MP, Corbiere C, Lebbah S, Morinière V, Broux F, Louillet F, Fischbach M, Zaloszyc A, Cloarec S, Merieau E, Baudouin V, Deschênes G, Roussey G, Maestri S, Visconti C, Boyer O, Abel C, Lahoche A, Randrianaivo H, Bessenay L, Mekahli D, Ouertani I, Decramer S, Ryckenwaert A, Cornec-Le Gall E, Salomon R, Ferec C, Heidet L.

J Am Soc Nephrol. 2016 Mar;27(3):722-9. doi: 10.1681/ASN.2014101051. Epub 2015 Jul 2.

8.

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.

J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22.

9.

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS.

Kidney Int. 2014 Sep;86(3):589-99. doi: 10.1038/ki.2014.72. Epub 2014 Mar 26.

10.

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Morinière V, Campait R, Ars E, Brackman D, Dantal J, Eckart P, Gigante M, Lipska BS, Liutkus A, Megarbane A, Mohsin N, Ozaltin F, Saleem MA, Schaefer F, Soulami K, Torra R, Garcelon N, Mollet G, Dahan K, Antignac C.

Hum Mutat. 2014 Feb;35(2):178-86. doi: 10.1002/humu.22485. Epub 2013 Dec 9. Review.

PMID:
24227627
11.

Absence of cell surface expression of human ACE leads to perinatal death.

Michaud A, Acharya KR, Masuyer G, Quenech'du N, Gribouval O, Morinière V, Gubler MC, Corvol P.

Hum Mol Genet. 2014 Mar 15;23(6):1479-91. doi: 10.1093/hmg/ddt535. Epub 2013 Oct 24.

12.

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

Madariaga L, Morinière V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, Dechelotte P, Leporrier N, Thauvin-Robinet C, Jensen UB, Gaillard D, Mathieu M, Turlin B, Attie-Bitach T, Salomon R, Gübler MC, Antignac C, Heidet L.

Clin J Am Soc Nephrol. 2013 Jul;8(7):1179-87. doi: 10.2215/CJN.10221012. Epub 2013 Mar 28.

13.

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

Kerti A, Csohány R, Szabó A, Arkossy O, Sallay P, Moriniére V, Vega-Warner V, Nyírő G, Lakatos O, Szabó T, Lipska BS, Schaefer F, Antignac C, Reusz G, Tulassay T, Tory K.

Pediatr Nephrol. 2013 May;28(5):751-7. doi: 10.1007/s00467-012-2379-2. Epub 2012 Dec 14.

PMID:
23242530
14.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L.

Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31.

PMID:
22213154
15.

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC.

Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Review.

PMID:
22095942
16.

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

Bollée G, Dahan K, Flamant M, Morinière V, Pawtowski A, Heidet L, Lacombe D, Devuyst O, Pirson Y, Antignac C, Knebelmann B.

Clin J Am Soc Nephrol. 2011 Oct;6(10):2429-38. doi: 10.2215/CJN.01220211. Epub 2011 Aug 25.

17.

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

Ceballos-Picot I, Guest G, Moriniere V, Mockel L, Daudon M, Malan V, Antignac C, Heidet L.

Clin Genet. 2011 Aug;80(2):199-201. doi: 10.1111/j.1399-0004.2011.01626.x. No abstract available.

PMID:
21749366
18.

Quantifying summed fullerene nC60 and related transformation products in water using LC LTQ Orbitrap MS and application to environmental samples.

van Wezel AP, Morinière V, Emke E, ter Laak T, Hogenboom AC.

Environ Int. 2011 Aug;37(6):1063-7. doi: 10.1016/j.envint.2011.03.020. Epub 2011 May 6.

PMID:
21529946
19.

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.

Jeanpierre C, Macé G, Parisot M, Morinière V, Pawtowsky A, Benabou M, Martinovic J, Amiel J, Attié-Bitach T, Delezoide AL, Loget P, Blanchet P, Gaillard D, Gonzales M, Carpentier W, Nitschke P, Tores F, Heidet L, Antignac C, Salomon R; Société Française de Foetopathologie.

J Med Genet. 2011 Jul;48(7):497-504. doi: 10.1136/jmg.2010.088526. Epub 2011 Apr 13.

20.

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D, Salomon R, Antignac C, Heidet L.

Hum Mutat. 2011 Feb;32(2):183-90. doi: 10.1002/humu.21402.

PMID:
21280147
21.

What is the risk that I will transmit nephrotic syndrome to my children, Doctor?

Benoit G, Morinière V, Charbit M, Niaudet P, Antignac C.

NDT Plus. 2010 Aug;3(4):402-4. doi: 10.1093/ndtplus/sfq095. Epub 2010 Jun 8. No abstract available.

22.

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R.

Clin J Am Soc Nephrol. 2010 Jun;5(6):1079-90. doi: 10.2215/CJN.06810909. Epub 2010 Apr 8.

23.

[Mutations in renin-angiotensin system genes and kidney developmental anomalies].

Gubler MC, Gribouval O, Morinière V, Pawtowski A, Antignac C.

J Soc Biol. 2009;203(4):311-8. doi: 10.1051/jbio/2009035. Epub 2010 Feb 1. Review. French.

PMID:
20122389
24.

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.

Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Morinière V, Williams P, Wong W, Rorsman P, Thakker RV.

Hum Mol Genet. 2009 Aug 15;18(16):2963-74. doi: 10.1093/hmg/ddp235. Epub 2009 May 22.

25.

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.

Lebre AS, Morinière V, Dunand O, Bensman A, Morichon-Delvallez N, Antignac C.

Eur J Hum Genet. 2009 Aug;17(8):1019-23. doi: 10.1038/ejhg.2009.13. Epub 2009 Mar 4.

26.

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

Tory K, Rousset-Rouvière C, Gubler MC, Morinière V, Pawtowski A, Becker C, Guyot C, Gié S, Frishberg Y, Nivet H, Deschênes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R.

Kidney Int. 2009 Apr;75(8):839-47. doi: 10.1038/ki.2008.662. Epub 2009 Jan 28.

27.

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.

Servais A, Morinière V, Grünfeld JP, Noël LH, Goujon JM, Chadefaux-Vekemans B, Antignac C.

Clin J Am Soc Nephrol. 2008 Jan;3(1):27-35. doi: 10.2215/CJN.01740407.

28.

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.

Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S.

J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.

29.

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.

Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R.

J Am Soc Nephrol. 2006 Oct;17(10):2864-70. Epub 2006 Sep 13.

30.

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.

Bollée G, Fakhouri F, Karras A, Noël LH, Salomon R, Servais A, Lesavre P, Morinière V, Antignac C, Hummel A.

Nephrol Dial Transplant. 2006 Sep;21(9):2660-3. Epub 2006 Jun 17. No abstract available.

PMID:
16782989
31.

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

Weber S, Gribouval O, Esquivel EL, Morinière V, Tête MJ, Legendre C, Niaudet P, Antignac C.

Kidney Int. 2004 Aug;66(2):571-9.

Supplemental Content

Loading ...
Support Center