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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. Bouchireb K, et al. Among authors: boyer o. Hum Mutat. 2014 Feb;35(2):178-86. doi: 10.1002/humu.22485. Epub 2013 Dec 9. Hum Mutat. 2014. PMID: 24227627 Review.
Association between 25(OH) vitamin D and graft survival in renal transplanted children.
Mosca M, Lion-Lambert M, Bienaimé F, Berthaud R, Dorval G, Garcelon N, Dehoux L, Krid S, Charbit M, Rabant M, Niaudet P, Salomon R, Bacchetta J, Boyer O. Mosca M, et al. Among authors: boyer o. Pediatr Transplant. 2020 Nov;24(7):e13809. doi: 10.1111/petr.13809. Epub 2020 Aug 26. Pediatr Transplant. 2020. PMID: 32845557
Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.
Dorval G, Boyer O, Couderc A, Delbet JD, Heidet L, Debray D, Krug P, Girard M, Llanas B, Charbit M, Krid S, Biebuyck N, Fila M, Courivaud C, Tilley F, Garcelon N, Blanc T, Chardot C, Salomon R, Lacaille F. Dorval G, et al. Among authors: boyer o. Pediatr Nephrol. 2021 May;36(5):1165-1173. doi: 10.1007/s00467-020-04808-9. Epub 2020 Nov 9. Pediatr Nephrol. 2021. PMID: 33165639
Arterial abnormalities identified in kidneys transplanted into children during the COVID-19 pandemic.
Berteloot L, Berthaud R, Temmam S, Lozach C, Zanelli E, Blanc T, Heloury Y, Capito C, Chardot C, Sarnacki S, Garcelon N, Lacaille F, Charbit M, Pastural M, Rabant M, Boddaert N, Leruez-Ville M, Eloit M, Sermet-Gaudelus I, Dehoux L, Boyer O. Berteloot L, et al. Among authors: boyer o. Am J Transplant. 2021 May;21(5):1937-1943. doi: 10.1111/ajt.16464. Epub 2021 Feb 18. Am J Transplant. 2021. PMID: 33346946 Free PMC article.
The spectrum of kidney function alterations in adolescents with a solitary functioning kidney.
Grapin M, Gaillard F, Biebuyck N, Ould-Rabah M, Hennequin C, Berthaud R, Dorval G, Blanc T, Hourmant M, Kamar N, Rostaing L, Couzi L, Garcelon N, Prié D, Boyer O, Bienaimé F. Grapin M, et al. Among authors: boyer o. Pediatr Nephrol. 2021 Oct;36(10):3159-3168. doi: 10.1007/s00467-021-05074-z. Epub 2021 Apr 25. Pediatr Nephrol. 2021. PMID: 33895898
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. Among authors: boyer o. 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.
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.
Faviez C, Vincent M, Garcelon N, Boyer O, Knebelmann B, Heidet L, Saunier S, Chen X, Burgun A. Faviez C, et al. Among authors: boyer o. Orphanet J Rare Dis. 2024 Feb 10;19(1):55. doi: 10.1186/s13023-024-03063-7. Orphanet J Rare Dis. 2024. PMID: 38336713 Free PMC article.
355 results