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kw.\*:("Syndrome d'Alport")

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Un nouveau cas de trou maculaire géant chez un patient présentant un syndrome d'Alport = A new case of giant macular hole in a patient with Alport syndromeMERCE, E; KOROBELNIK, J.-F; DELYFER, M.-N et al.Journal français d'ophtalmologie. 2012, Vol 35, Num 8, pp 573-579, issn 0181-5512, 7 p.Article

Léiomyomatose oesophagienne révélatrice d'un syndrome d'Alport = Esophageal leiomyomatosis revealing an Alport syndromeABBES, K; AYADI, L; SELLAMI BOUDAWARA, T et al.La Revue de médecine interne (Paris). 2009, Vol 30, Num 1, pp 88-90, issn 0248-8663, 3 p.Article

Coexpression des chaînes alpha5 et alpha2 (IV) : une technique de choix pour le diagnostic de syndrome d'Alport à partir d'une biopsie cutanée = Collagen alpha5 and alpha2 (IV) chain coexpression : The procedure of choice to diagnose Alport syndrome from skin biopsiesPATEY-MARIAUD DE SERRE, Natacha; NOËL, Laure-Hélène.Annales de pathologie (Print). 2008, Vol 28, Num 3, pp 182-186, issn 0242-6498, 5 p.Article

Atteinte oculaire au cours du syndrome d'Alport. À propos de 32 cas = Ocular findings in Alport syndrome : 32 case studiesHENTATI, N; SELLAMI, D; MAKNI, K et al.Journal français d'ophtalmologie. 2008, Vol 31, Num 6, pp 597-604, issn 0181-5512, 8 p., CAH1Conference Paper

The Renal Lesions of Alport SyndromeHEIDET, Laurence; GUBLER, Marie-Claire.Journal of the American Society of Nephrology. 2009, Vol 20, Num 6, pp 1210-1215, issn 1046-6673, 6 p.Article

La découverte du syndrome d'Alport à l'adolescence = The discovery of Alport's syndrome in adolescenceJEAN-DIT-PANNEL, Romuald.Information psychiatrique. 2014, Vol 90, Num 1, pp 57-63, issn 0020-0204, 7 p.Article

Advances in Alport syndrome diagnosis using next-generation sequencingARTUSO, Rosangela; FALLERINI, Chiara; LONGO, Ilaria et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 50-57, issn 1018-4813, 8 p.Article

Ocular manifestations and surgical results in patients with Alport syndromeSEYMENOGLU, Göktug; BASER, Esin F.Journal of cataract and refractive surgery. 2009, Vol 35, Num 7, pp 1302-1306, issn 0886-3350, 5 p.Article

Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane NephropathySAVIGE, Judy; GREGORY, Martin; GROSS, Oliver et al.Journal of the American Society of Nephrology. 2013, Vol 24, Num 3, pp 364-375, issn 1046-6673, 12 p.Article

Retinal findings in patients with Alport Syndrome: expanding the clinical spectrumFAWZI, A. A; LEE, N. G; ELIOTT, D et al.British journal of ophthalmology. 2009, Vol 93, Num 12, pp 1606-1611, issn 0007-1161, 6 p.Article

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndromeKROL, Rafal Przybyslaw; NOM, Kandai; YOSHIKAWA, Norishige et al.Nephrology, dialysis, transplantation (Print). 2008, Vol 23, Num 8, pp 2525-2530, issn 0931-0509, 6 p.Article

Pulmonary Outcome of Alport Syndrome With Familial Diffuse Esophageal LeiomymatosisLIVNAT, Galit; BEST, Lael Anson; GURALNIK, Ludmila et al.Pediatric pulmonology. 2011, Vol 46, Num 6, pp 614-616, issn 8755-6863, 3 p.Article

Autosomal dominant Alport syndrome : molecular analysis of the COL4A4 gene and clinical outcomeMARCOCCI, Elena; ULIANA, Vera; GIACHINO, Daniela et al.Nephrology, dialysis, transplantation (Print). 2009, Vol 24, Num 5, pp 1464-1471, issn 0931-0509, 8 p.Article

Late Presentation of Alport Posttransplantation Anti-Glomerular Basement Membrane DiseaseDE SANDES-FREITAS, T. V; HOLANDA-CAVALCANTI, A; MASTROIANNI-KIRSZTAJN, G et al.Transplantation proceedings. 2011, Vol 43, Num 10, pp 4000-4001, issn 0041-1345, 2 p.Article

L'irradiation avant la greffe est seule efficace dans le traitement du syndrome d'AlportARDAILLOU, Raymond.MS. Médecine sciences. 2008, Vol 24, Num 10, pp 818-818, issn 0767-0974, 1 p.Article

Quaternary Epitopes of α345(IV) Collagen Initiate Alport Post-Transplant Anti-GBM NephritisOLARU, Florina; LUO, Wentian; WANG, Xu-Ping et al.Journal of the American Society of Nephrology. 2013, Vol 24, Num 6, issn 1046-6673, 889-895 [7 p.]Article

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport SyndromeSTOREY, Helen; SAVIGE, Judy; SIVAKUMAR, Vanessa et al.Journal of the American Society of Nephrology. 2013, Vol 24, Num 12, pp 1945-1954, issn 1046-6673, 10 p.Article

Apport de l'immunohistochimie dans le diagnostic du syndrome d'Alport = Immunochemical contribution in Alport syndrome diagnosisMAKNI, S. Krichen; KHARRAT, M; BEN HMIDA, M et al.La Revue de médecine interne (Paris). 2005, Vol 26, Num 7, pp 583-587, issn 0248-8663, 5 p.Article

Stem Cell Therapies Benefit Alport SyndromeLEBLEU, Valerie; SUGIMOTO, Hikaru; KALLURI, Raghu et al.Journal of the American Society of Nephrology. 2009, Vol 20, Num 11, pp 2359-2370, issn 1046-6673, 12 p.Article

Indications extra-cutanées de la biopsie de peau normale = Normal skin biopsy as a tool for extra-cutaneous disordersKLUGER, N; FRAITAG, S; ROGUEDAS, A.-M et al.Annales de dermatologie et de vénéréologie. 2014, Vol 141, Num 3, pp 192-200, issn 0151-9638, 9 p.Article

Plasma leakage through glomerular basement membrane ruptures triggers the proliferation of parietal epithelial cells and crescent formation in non-inflammatory glomerular injuryRYU, Mi; MIGLIORINI, Adriana; MIOSGE, Nicolai et al.Journal of pathology (Print). 2012, Vol 228, Num 4, pp 482-494, issn 0022-3417, 13 p.Article

Outcome of Renal Transplantation in Alport's Syndrome: A Single-Center ExperienceGUMBER, M. R; KUTE, V. B; GOPLANI, K. R et al.Transplantation proceedings. 2012, Vol 44, Num 1, pp 261-263, issn 0041-1345, 3 p.Conference Paper

Clear lens extraction in Alport syndrome with combined anterior and posterior lenticonus or ruptured anterior lens capsuleGUPTA, Arvind; RAMESH BABU, K; SRINIVASAN, Renuka et al.Journal of cataract and refractive surgery. 2011, Vol 37, Num 11, pp 2075-2078, issn 0886-3350, 4 p.Article

Intellectual Disability, Midface Hypoplasia, Facial Hypotonia, and Alport Syndrome Are Associated With a Deletion in Xq22.3RODRIGUEZ, Jayson D; BHAT, Shambhu S; SRIVASTAVA, Anand K et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 713-717, issn 1552-4825, 5 p.Article

Efficacy and safety of losartan in children with Alport syndrome—results from a subgroup analysis of a prospective, randomized, placebo- or amlodipine-controlled trialWEBB, Nicholas J. A; LAM, Chun; SHAHINFAR, Shahnaz et al.Nephrology, dialysis, transplantation (Print). 2011, Vol 26, Num 8, pp 2521-2526, issn 0931-0509, 6 p.Article

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