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Items: 1 to 20 of 45


Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

Chiereghin C, Robusto M, Mastrangelo A, Castorina P, Montini G, Giani M, Duga S, Asselta R, Soldà G.

PLoS One. 2017 Jun 1;12(6):e0178630. doi: 10.1371/journal.pone.0178630. eCollection 2017.


Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Liu JH, Wei XX, Li A, Cui YX, Xia XY, Qin WS, Zhang MC, Gao EZ, Sun J, Gao CL, Liu FX, Wu QY, Li WW, Asan, Liu ZH, Li XJ.

PLoS One. 2017 May 18;12(5):e0177685. doi: 10.1371/journal.pone.0177685. eCollection 2017.


Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.

Wang Y, Dang X, He Q, Zhen Y, He X, Yi Z, Zhu K.

Gene. 2017 Aug 20;625:15-20. doi: 10.1016/j.gene.2017.04.050. Epub 2017 May 2.


Familial hematuria: A review.

Plevová P, Gut J, Janda J.

Medicina (Kaunas). 2017;53(1):1-10. doi: 10.1016/j.medici.2017.01.002. Epub 2017 Jan 31. Review.


Identification of a novel collagen type IV alpha-4 (<i>COL4A4</i>) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.

Deng S, Xu H, Yuan J, Xiao J, Yuan L, Deng X, Guan L, Zhu A, Rong P, Zhang J, Deng H.

Indian J Med Res. 2016 Aug;144(2):200-205. doi: 10.4103/0971-5916.195026.


A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.

Gale DP, Oygar DD, Lin F, Oygar PD, Khan N, Connor TM, Lapsley M, Maxwell PH, Neild GH.

Nephrol Dial Transplant. 2016 Nov;31(11):1908-1914. Epub 2016 Apr 8.


X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M.

PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016.


Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome.

Cosgrove D, Liu S.

Matrix Biol. 2017 Jan;57-58:45-54. doi: 10.1016/j.matbio.2016.08.005. Epub 2016 Aug 27. Review.


Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression.

Chung DW, Frausto RF, Chiu S, Lin BR, Aldave AJ.

Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4136-43. doi: 10.1167/iovs.16-19533.


A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.

Wu Y, Hu P, Xu H, Yuan J, Yuan L, Xiong W, Deng X, Deng H.

J Cell Mol Med. 2016 Dec;20(12):2328-2332. doi: 10.1111/jcmm.12924. Epub 2016 Jul 29.


Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K.

Clin J Am Soc Nephrol. 2016 Aug 8;11(8):1441-9. doi: 10.2215/CJN.01000116. Epub 2016 Jun 8.


Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent C, Judge P, Knebelman B, Heidet L, Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LCG, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R.

Nephrol Dial Transplant. 2017 Jun 1;32(6):916-924. doi: 10.1093/ndt/gfw095.


Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis.

Mak AC, Tang PL, Cleveland C, Smith MH, Kari Connolly M, Katsumoto TR, Wolters PJ, Kwok PY, Criswell LA.

Arthritis Rheumatol. 2016 Sep;68(9):2257-62. doi: 10.1002/art.39721.


A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.

Chen C, Lu CX, Wang Q, Cao LH, Luo Y, Zhang X.

Genet Test Mol Biomarkers. 2016 Apr;20(4):203-7. doi: 10.1089/gtmb.2015.0248. Epub 2016 Feb 11.


A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.

Xu Y, Guo M, Dong H, Jiang W, Ma R, Liu S, Li S.

Sci Rep. 2016 Feb 2;6:20244. doi: 10.1038/srep20244.


Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

Weber S, Strasser K, Rath S, Kittke A, Beicht S, Alberer M, Lange-Sperandio B, Hoyer PF, Benz MR, Ponsel S, Weber LT, Klein HG, Hoefele J.

Pediatr Nephrol. 2016 Jun;31(6):941-55. doi: 10.1007/s00467-015-3302-4. Epub 2016 Jan 25.


Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Answers.

Truong J, Deschênes G, Callard P, Antignac C, Niel O.

Pediatr Nephrol. 2017 Feb;32(2):279-281. doi: 10.1007/s00467-015-3268-2. Epub 2015 Dec 1.


Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Questions.

Truong J, Deschênes G, Callard P, Antignac C, Niel O.

Pediatr Nephrol. 2017 Feb;32(2):277-278. doi: 10.1007/s00467-015-3266-4. Epub 2015 Dec 1.


Phenotypic heterogeneity in females with X-linked Alport syndrome.

Allred SC, Weck KE, Gasim A, Mottl AK.

Clin Nephrol. 2015 Nov;84(5):296-300. doi: 10.5414/CN108561.


Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

Deltas C, Savva I, Voskarides K, Papazachariou L, Pierides A.

Nephron. 2015;130(4):271-80. doi: 10.1159/000435789. Epub 2015 Jul 17. Review.


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