Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

A wave of deep intronic mutations in X-linked Alport syndrome.

Boisson, Marie; Arrondel, Christelle; Cagnard, Nicolas; Morinière, Vincent; Arkoub, Zaïna Aït; Saei, Hassan; Heidet, Laurence; Kachmar, Jessica; Hummel, Aurélie; Knebelmann, Bertrand; Bonnet-Dupeyron, Marie-Noëlle; Isidor, Bertrand; Izzedine, Hassane; Legrand, Eric; Couarch, Philippe; Gribouval, Olivier; Bole-Feysot, Christine; Parisot, Mélanie; Nitschké, Patrick; Antignac, Corinne; Dorval, Guillaume.

Kidney Int ; 104(2): 367-377, 2023 08.

Artigo em Inglês | MEDLINE | ID: mdl-37230224

2.

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Dirix, Marie; Gribouval, Olivier; Arrondel, Christelle; Benjelloun, Saadia; Boyer, Olivia; Charbit, Marina; Antignac, Corinne; Heidet, Laurence; Dorval, Guillaume.

Clin Genet ; 103(6): 693-698, 2023 06.

Artigo em Inglês | MEDLINE | ID: mdl-36705481

3.

Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.

Dana, Jérémy; Dorval, Guillaume; Martin, Christine Saint; Belhous, Kahina; Levy, Raphael; Marlin, Sandrine; De Bie, Isabelle; Mautret-Godefroy, Manon; Rausell, Antonio; Rio, Marlène; Boucher-Brischoux, Elise; Attié-Bitach, Tania; Boddaert, Nathalie; Pingault, Véronique.

Clin Genet ; 104(4): 466-471, 2023 10.

Artigo em Inglês | MEDLINE | ID: mdl-37243350

4.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Balogh, Eszter; Chandler, Jennifer C; Varga, Máté; Tahoun, Mona; Menyhárd, Dóra K; Schay, Gusztáv; Goncalves, Tomas; Hamar, Renáta; Légrádi, Regina; Szekeres, Ákos; Gribouval, Olivier; Kleta, Robert; Stanescu, Horia; Bockenhauer, Detlef; Kerti, Andrea; Williams, Hywel; Kinsler, Veronica; Di, Wei-Li; Curtis, David; Kolatsi-Joannou, Maria; Hammid, Hafsa; Szocs, Anna; Perczel, Kristóf; Maka, Erika; Toldi, Gergely; Sava, Florentina; Arrondel, Christelle; Kardos, Magdolna; Fintha, Attila; Hossain, Ahmed; D'Arco, Felipe; Kaliakatsos, Mario; Koeglmeier, Jutta; Mifsud, William; Moosajee, Mariya; Faro, Ana; Jávorszky, Eszter; Rudas, Gábor; Saied, Marwa H; Marzouk, Salah; Kelen, Kata; Götze, Judit; Reusz, George; Tulassay, Tivadar; Dragon, François; Mollet, Géraldine; Motameny, Susanne; Thiele, Holger; Dorval, Guillaume; Nürnberg, Peter.

Proc Natl Acad Sci U S A ; 117(26): 15137-15147, 2020 06 30.

Artigo em Inglês | MEDLINE | ID: mdl-32554502

5.

Long-Term Efficacy and Safety of Repeated Rituximab to Maintain Remission in Idiopathic Childhood Nephrotic Syndrome: An International Study.

Chan, Eugene Yu-Hin; Yu, Ellen L M; Angeletti, Andrea; Arslan, Zainab; Basu, Biswanath; Boyer, Olivia; Chan, Chang-Yien; Colucci, Manuela; Dorval, Guillaume; Dossier, Claire; Drovandi, Stefania; Ghiggeri, Gian Marco; Gipson, Debbie S; Hamada, Riku; Hogan, Julien; Ishikura, Kenji; Kamei, Koichi; Kemper, Markus J; Ma, Alison Lap-Tak; Parekh, Rulan S; Radhakrishnan, Seetha; Saini, Priya; Shen, Qian; Sinha, Rajiv; Subun, Chantida; Teo, Sharon; Vivarelli, Marina; Webb, Hazel; Xu, Hong; Yap, Hui Kim; Tullus, Kjell.

J Am Soc Nephrol ; 33(6): 1193-1207, 2022 06.

Artigo em Inglês | MEDLINE | ID: mdl-35354600

6.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Jordan, Penelope; Dorval, Guillaume; Arrondel, Christelle; Morinière, Vincent; Tournant, Carole; Audrezet, Marie-Pierre; Michel-Calemard, Laurence; Putoux, Audrey; Lesca, Gaethan; Labalme, Audrey; Whalen, Sandra; Loeuillet, Laurence; Martinovic, Jelena; Attie-Bitach, Tania; Bessières, Bettina; Schaefer, Elise; Scheidecker, Sophie; Lambert, Laetitia; Beneteau, Claire; Patat, Olivier; Boute-Benejean, Odile; Molin, Arnaud; Guimiot, Fabien; Fontanarosa, Nicolas; Nizon, Mathilde; Lefebvre, Mathilde; Jeanpierre, Cécile; Saunier, Sophie; Heidet, Laurence.

Hum Mutat ; 43(3): 347-361, 2022 03.

Artigo em Inglês | MEDLINE | ID: mdl-35005812

7.

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Dorval, Guillaume; Kuzmuk, Valeryia; Gribouval, Olivier; Welsh, Gavin I; Bierzynska, Agnieszka; Schmitt, Alain; Miserey-Lenkei, Stéphanie; Koziell, Ania; Haq, Shuman; Benmerah, Alexandre; Mollet, Géraldine; Boyer, Olivia; Saleem, Moin A; Antignac, Corinne.

Am J Hum Genet ; 104(2): 348-355, 2019 02 07.

Artigo em Inglês | MEDLINE | ID: mdl-30661770

8.

Neurological involvement in monogenic podocytopathies.

Boyer, Olivia; Mollet, Géraldine; Dorval, Guillaume.

Pediatr Nephrol ; 36(11): 3571-3583, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-33791874

9.

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.

Dorval, Guillaume; Jeanpierre, Cécile; Morinière, Vincent; Tournant, Carole; Bessières, Bettina; Attié-Bittach, Tania; Amiel, Jeanne; Spaggari, Emmanuel; Ville, Yves; Merieau, Elodie; Gubler, Marie-Claire; Saunier, Sophie; Heidet, Laurence.

Pediatr Nephrol ; 36(8): 2361-2369, 2021 08.

Artigo em Inglês | MEDLINE | ID: mdl-33580824

10.

The spectrum of kidney function alterations in adolescents with a solitary functioning kidney.

Grapin, Mathilde; Gaillard, François; Biebuyck, Nathalie; Ould-Rabah, Melissa; Hennequin, Carole; Berthaud, Romain; Dorval, Guillaume; Blanc, Thomas; Hourmant, Maryvonne; Kamar, Nassim; Rostaing, Lionel; Couzi, Lionel; Garcelon, Nicolas; Prié, Dominique; Boyer, Olivia; Bienaimé, Frank.

Pediatr Nephrol ; 36(10): 3159-3168, 2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-33895898

11.

Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.

Dorval, Guillaume; Boyer, Olivia; Couderc, Anne; Delbet, Jean-Daniel; Heidet, Laurence; Debray, Dominique; Krug, Pauline; Girard, Muriel; Llanas, Brigitte; Charbit, Marina; Krid, Saoussen; Biebuyck, Nathalie; Fila, Marc; Courivaud, Cécile; Tilley, Frances; Garcelon, Nicolas; Blanc, Thomas; Chardot, Christophe; Salomon, Rémi; Lacaille, Florence.

Pediatr Nephrol ; 36(5): 1165-1173, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-33165639

12.

Association between 25(OH) vitamin D and graft survival in renal transplanted children.

Mosca, Mélodie; Lion-Lambert, Mathilde; Bienaimé, Frank; Berthaud, Romain; Dorval, Guillaume; Garcelon, Nicolas; Dehoux, Laurène; Krid, Saoussen; Charbit, Marina; Rabant, Marion; Niaudet, Patrick; Salomon, Rémi; Bacchetta, Justine; Boyer, Olivia.

Pediatr Transplant ; 24(7): e13809, 2020 11.

Artigo em Inglês | MEDLINE | ID: mdl-32845557

13.

Multipopulation genome-wide association meta-analysis in pediatric steroid-sensitive nephrotic syndrome.

Boyer, Olivia; Dorval, Guillaume.

Kidney Int ; 105(1): 14-17, 2024 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-37714428

14.

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.

Dorval, Guillaume; Gribouval, Olivier; Martinez-Barquero, Vanesa; Machuca, Eduardo; Tête, Marie-Josèphe; Baudouin, Véronique; Benoit, Stéphane; Chabchoub, Imen; Champion, Gérard; Chauveau, Dominique; Chehade, Hassib; Chouchane, Chokri; Cloarec, Sylvie; Cochat, Pierre; Dahan, Karin; Dantal, Jacques; Delmas, Yahsou; Deschênes, Georges; Dolhem, Phillippe; Durand, Dominique; Ekinci, Zelal; El Karoui, Khalil; Fischbach, Michel; Grunfeld, Jean-Pierre; Guigonis, Vincent; Hachicha, Mongia; Hogan, Julien; Hourmant, Maryvonne; Hummel, Aurélie; Kamar, Nassim; Krummel, Thierry; Lacombe, Didier; Llanas, Brigitte; Mesnard, Laurent; Mohsin, Nabil; Niaudet, Patrick; Nivet, Hubert; Parvex, Paloma; Pietrement, Christine; de Pontual, Loic; Noble, Claire Pouteil; Ribes, David; Ronco, Pierre; Rondeau, Eric; Sallee, Marion; Tsimaratos, Michel; Ulinski, Tim; Salomon, Rémi; Antignac, Corinne; Boyer, Olivia.

Pediatr Nephrol ; 33(3): 473-483, 2018 03.

Artigo em Inglês | MEDLINE | ID: mdl-29058154

15.

The genetics of steroid-resistant nephrotic syndrome in children.

Dorval, Guillaume; Servais, Aude; Boyer, Olivia.

Nephrol Dial Transplant ; 37(4): 648-651, 2022 03 25.

Artigo em Inglês | MEDLINE | ID: mdl-33180925

16.

Atypical severe early-onset nephrotic syndrome: Questions.

Berthaud, Romain; Heidet, Laurence; Oualha, Mehdi; Brat, Roselyne; Talmud, Déborah; Garaix, Florentine; Rabant, Marion; Frémeaux-Bacchi, Véronique; Antignac, Corinne; Boyer, Olivia; Dorval, Guillaume.

Pediatr Nephrol ; 37(11): 2635-2636, 2022 11.

Artigo em Inglês | MEDLINE | ID: mdl-35507145

17.

Atypical severe early-onset nephrotic syndrome: Answers.

Berthaud, Romain; Heidet, Laurence; Oualha, Mehdi; Brat, Roselyne; Talmud, Déborah; Garaix, Florentine; Rabant, Marion; Frémeaux-Bacchi, Véronique; Antignac, Corinne; Boyer, Olivia; Dorval, Guillaume.

Pediatr Nephrol ; 37(11): 2637-2642, 2022 11.

Artigo em Inglês | MEDLINE | ID: mdl-35507148

18.

A very uncommon cause of acute kidney injury in infancy.

Dorval, Guillaume; Balducci, Estelle; Kaltenbach, Sophie; Chomton, Maryline; Krid, Saoussen; Rabant, Marion; Porcheret, Florence; Duong Van Huyen, Jean-Paul; Eckart, Philippe; Mortamet, Guillaume; Delacourt, Christophe; de Saint-Blanquat, Laure; Dehoux, Laurene; Picard, Capucine; Salomon, Rémi; Neven, Bénédicte; Boyer, Olivia.

Kidney Int ; 100(4): 948-950, 2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-34556303

19.

Erratum.

Dorval, Guillaume; Servais, Aude; Boyer, Olivia.

Nephrol Dial Transplant ; 36(8): 1556, 2021 Jul 23.

Artigo em Inglês | MEDLINE | ID: mdl-33351149

20.

Errata.

Boyer, Olivia; Dorval, Guillaume; Servais, Aude.

Nephrol Dial Transplant ; 36(5): 951, 2021 04 26.

Artigo em Inglês | MEDLINE | ID: mdl-32940696

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