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Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I. Méjécase C, et al. Among authors: hummel a. Clin Genet. 2019 Feb;95(2):329-333. doi: 10.1111/cge.13453. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30267408
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O. Dorval G, et al. Among authors: hummel a. Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23. Pediatr Nephrol. 2018. PMID: 29058154
[Haematuria : diagnostic approach].
Hummel A. Hummel A. Rev Prat. 2017 Oct;67(8):e379-e380. Rev Prat. 2017. PMID: 30512834 French. No abstract available.
Rituximab for Severe Membranous Nephropathy: A 6-Month Trial with Extended Follow-Up.
Dahan K, Debiec H, Plaisier E, Cachanado M, Rousseau A, Wakselman L, Michel PA, Mihout F, Dussol B, Matignon M, Mousson C, Simon T, Ronco P; GEMRITUX Study Group. Dahan K, et al. J Am Soc Nephrol. 2017 Jan;28(1):348-358. doi: 10.1681/ASN.2016040449. Epub 2016 Jun 27. J Am Soc Nephrol. 2017. PMID: 27352623 Free PMC article. Clinical Trial.
Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults.
Gribouval O, Boyer O, Hummel A, Dantal J, Martinez F, Sberro-Soussan R, Etienne I, Chauveau D, Delahousse M, Lionet A, Allard J, Pouteil Noble C, Tête MJ, Heidet L, Antignac C, Servais A. Gribouval O, et al. Among authors: hummel a. Kidney Int. 2018 Nov;94(5):1013-1022. doi: 10.1016/j.kint.2018.07.024. Kidney Int. 2018. PMID: 30348286 Free article.
Erythrocytosis associated with IgA nephropathy.
Cohen C, Coulon S, Bhukhai K, Neuraz A, Dussiot M, Fouquet G, Stang ML, Flamant M, Vrtovsnik F, Hummel A, Knebelmann B, Mesnard L, Rondeau E, Maciel TT, Favale F, Casadevall N, Nguyen-Khoa T, Moutereau S, Legendre C, Benhamou M, Monteiro RC, Hermine O, El Karoui K, Moura IC. Cohen C, et al. Among authors: hummel a. EBioMedicine. 2022 Jan;75:103785. doi: 10.1016/j.ebiom.2021.103785. Epub 2021 Dec 24. EBioMedicine. 2022. PMID: 34959131 Free PMC article.
[AL amyloidosis and monoclonal immunoglobulin deposit diseases].
Lesavre P, Droz D, Noël LH, Hummel A, Aucouturier P, Chauveau D, Grünfeld JP. Lesavre P, et al. Among authors: hummel a. Rev Med Interne. 2001 Jun;22 Suppl 1:16s-17s. doi: 10.1016/s0248-8663(01)83335-x. Rev Med Interne. 2001. PMID: 11439440 French. No abstract available.
300 results