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Items: 1 to 50 of 266

1.

Enhanced detection of circulating tumor DNA by fragment size analysis.

Mouliere F, Chandrananda D, Piskorz AM, Moore EK, Morris J, Ahlborn LB, Mair R, Goranova T, Marass F, Heider K, Wan JCM, Supernat A, Hudecova I, Gounaris I, Ros S, Jimenez-Linan M, Garcia-Corbacho J, Patel K, Østrup O, Murphy S, Eldridge MD, Gale D, Stewart GD, Burge J, Cooper WN, van der Heijden MS, Massie CE, Watts C, Corrie P, Pacey S, Brindle KM, Baird RD, Mau-Sørensen M, Parkinson CA, Smith CG, Brenton JD, Rosenfeld N.

Sci Transl Med. 2018 Nov 7;10(466). pii: eaat4921. doi: 10.1126/scitranslmed.aat4921.

PMID:
30404863
2.

Measurement of plasma cell-free mitochondrial tumor DNA improves detection of glioblastoma in patient-derived orthotopic xenograft models.

Mair R, Mouliere F, Smith CG, Chandrananda D, Gale D, Marass F, Tsui DWY, Massie CE, Wright AJ, Watts C, Rosenfeld N, Brindle KM.

Cancer Res. 2018 Nov 2. pii: canres.0074.2018. doi: 10.1158/0008-5472.CAN-18-0074. [Epub ahead of print]

PMID:
30389699
3.

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G.

BMC Nephrol. 2018 Oct 30;19(1):301. doi: 10.1186/s12882-018-1107-y.

4.

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex.

Amin S, Kingswood JC, Bolton PF, Elmslie F, Gale DP, Harland C, Johnson SR, Parker A, Sampson JR, Smeaton M, Wright I, O'Callaghan FJ.

QJM. 2018 Sep 21. doi: 10.1093/qjmed/hcy215. [Epub ahead of print]

PMID:
30247655
5.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.

J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.

6.

Effects of Collection and Processing Procedures on Plasma Circulating Cell-Free DNA from Cancer Patients.

Risberg B, Tsui DWY, Biggs H, Ruiz-Valdepenas Martin de Almagro A, Dawson SJ, Hodgkin C, Jones L, Parkinson C, Piskorz A, Marass F, Chandrananda D, Moore E, Morris J, Plagnol V, Rosenfeld N, Caldas C, Brenton JD, Gale D.

J Mol Diagn. 2018 Nov;20(6):883-892. doi: 10.1016/j.jmoldx.2018.07.005. Epub 2018 Aug 28.

7.

MUC1 Makes Me Miserable.

Gale DP, Kleta R.

J Am Soc Nephrol. 2018 Sep;29(9):2257-2258. doi: 10.1681/ASN.2018070742. Epub 2018 Aug 17. No abstract available.

PMID:
30120109
8.

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H.

Pediatr Nephrol. 2018 Jul 9. doi: 10.1007/s00467-018-3985-4. [Epub ahead of print] Review.

PMID:
29987460
9.

Dynamics of multiple resistance mechanisms in plasma DNA during EGFR-targeted therapies in non-small cell lung cancer.

Tsui DWY, Murtaza M, Wong ASC, Rueda OM, Smith CG, Chandrananda D, Soo RA, Lim HL, Goh BC, Caldas C, Forshew T, Gale D, Liu W, Morris J, Marass F, Eisen T, Chin TM, Rosenfeld N.

EMBO Mol Med. 2018 Jun;10(6). pii: e7945. doi: 10.15252/emmm.201707945.

10.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.

PMID:
29654216
11.

Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA.

Gale D, Lawson ARJ, Howarth K, Madi M, Durham B, Smalley S, Calaway J, Blais S, Jones G, Clark J, Dimitrov P, Pugh M, Woodhouse S, Epstein M, Fernandez-Gonzalez A, Whale AS, Huggett JF, Foy CA, Jones GM, Raveh-Amit H, Schmitt K, Devonshire A, Green E, Forshew T, Plagnol V, Rosenfeld N.

PLoS One. 2018 Mar 16;13(3):e0194630. doi: 10.1371/journal.pone.0194630. eCollection 2018.

12.

Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling.

Plagnol V, Woodhouse S, Howarth K, Lensing S, Smith M, Epstein M, Madi M, Smalley S, Leroy C, Hinton J, de Kievit F, Musgrave-Brown E, Herd C, Baker-Neblett K, Brennan W, Dimitrov P, Campbell N, Morris C, Rosenfeld N, Clark J, Gale D, Platt J, Calaway J, Jones G, Forshew T.

PLoS One. 2018 Mar 15;13(3):e0193802. doi: 10.1371/journal.pone.0193802. eCollection 2018.

13.

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Osborne AJ, Breno M, Borsa NG, Bu F, Frémeaux-Bacchi V, Gale DP, van den Heuvel LP, Kavanagh D, Noris M, Pinto S, Rallapalli PM, Remuzzi G, Rodríguez de Cordoba S, Ruiz A, Smith RJH, Vieira-Martins P, Volokhina E, Wilson V, Goodship THJ, Perkins SJ.

J Immunol. 2018 Apr 1;200(7):2464-2478. doi: 10.4049/jimmunol.1701695. Epub 2018 Mar 2.

PMID:
29500241
14.

SemEHR: A general-purpose semantic search system to surface semantic data from clinical notes for tailored care, trial recruitment, and clinical research.

Wu H, Toti G, Morley KI, Ibrahim ZM, Folarin A, Jackson R, Kartoglu I, Agrawal A, Stringer C, Gale D, Gorrell G, Roberts A, Broadbent M, Stewart R, Dobson RJB.

J Am Med Inform Assoc. 2018 May 1;25(5):530-537. doi: 10.1093/jamia/ocx160.

15.

Surface potential and morphology mapping to investigate analyte adsorption effects on surface enhanced Raman scattering (SERS).

Chatterjee A, Gale DJG, Grebennikov D, Whelan LD, Merschrod S EF.

Chem Commun (Camb). 2017 Nov 2;53(88):12024-12027. doi: 10.1039/c7cc05473d.

PMID:
29058738
16.

Brief executive function training for individuals with severe mental illness: Effects on EEG synchronization and executive functioning.

Best MW, Gale D, Tran T, Haque MK, Bowie CR.

Schizophr Res. 2017 Sep 18. pii: S0920-9964(17)30528-5. doi: 10.1016/j.schres.2017.08.052. [Epub ahead of print]

PMID:
28931460
17.

Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

Chan MMY, Barnicoat A, Mumtaz F, Aitchison M, Side L, Brittain H, Bates AWH, Gale DP.

BMC Med Genet. 2017 Jul 26;18(1):79. doi: 10.1186/s12881-017-0436-1.

18.

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, Stylianou K, Ioannou P, Xydakis D, Tzanakis I, Papadaki A, Kallivretakis N, Nikolakakis N, Perysinaki G, Gale DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira E, Komianou F, Grekas D, Paliouras C, Alivanis P, Vergoulas G, Pierides A, Daphnis E, Deltas C.

Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25.

PMID:
28632965
19.

Quantification of rat supraglottic laryngeal sensation threshold.

Gale DC, Bhatt NK, Paniello RC.

Laryngoscope. 2017 Aug;127(8):E265-E269. doi: 10.1002/lary.26500. Epub 2017 May 11.

PMID:
28497615
20.

A Novel Neuroprotective Small Molecule for Glial Cell Derived Neurotrophic Factor Induction and Photoreceptor Rescue.

Baranov P, Lin H, McCabe K, Gale D, Cai S, Lieppman B, Morrow D, Lei P, Liao J, Young M.

J Ocul Pharmacol Ther. 2017 Jun;33(5):412-422. doi: 10.1089/jop.2016.0121. Epub 2017 Apr 25.

21.

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.

Voskarides K, Stefanou C, Pieri M, Demosthenous P, Felekkis K, Arsali M, Athanasiou Y, Xydakis D, Stylianou K, Daphnis E, Goulielmos G, Loizou P, Savige J, Höhne M, Völker LA, Benzing T, Maxwell PH, Gale DP, Gorski M, Böger C, Kollerits B, Kronenberg F, Paulweber B, Zavros M, Pierides A, Deltas C.

PLoS One. 2017 Mar 23;12(3):e0174274. doi: 10.1371/journal.pone.0174274. eCollection 2017.

22.

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Connor TM, Hoer S, Mallett A, Gale DP, Gomez-Duran A, Posse V, Antrobus R, Moreno P, Sciacovelli M, Frezza C, Duff J, Sheerin NS, Sayer JA, Ashcroft M, Wiesener MS, Hudson G, Gustafsson CM, Chinnery PF, Maxwell PH.

PLoS Genet. 2017 Mar 7;13(3):e1006620. doi: 10.1371/journal.pgen.1006620. eCollection 2017 Mar.

23.

Compound motor action potential duration and latency are markers of recurrent laryngeal nerve injury.

Bhatt NK, Park AM, Al-Lozi MT, Gale DC, Paniello RC.

Laryngoscope. 2017 Aug;127(8):1855-1860. doi: 10.1002/lary.26531. Epub 2017 Feb 22.

PMID:
28224637
24.

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.

Gale DP, Molyneux K, Wimbury D, Higgins P, Levine AP, Caplin B, Ferlin A, Yin P, Nelson CP, Stanescu H, Samani NJ, Kleta R, Yu X, Barratt J.

J Am Soc Nephrol. 2017 Jul;28(7):2158-2166. doi: 10.1681/ASN.2016091043. Epub 2017 Feb 16.

25.

Osimertinib benefit in EGFR-mutant NSCLC patients with T790M-mutation detected by circulating tumour DNA.

Remon J, Caramella C, Jovelet C, Lacroix L, Lawson A, Smalley S, Howarth K, Gale D, Green E, Plagnol V, Rosenfeld N, Planchard D, Bluthgen MV, Gazzah A, Pannet C, Nicotra C, Auclin E, Soria JC, Besse B.

Ann Oncol. 2017 Apr 1;28(4):784-790. doi: 10.1093/annonc/mdx017.

PMID:
28104619
26.

Exploratory Analysis of TP53 Mutations in Circulating Tumour DNA as Biomarkers of Treatment Response for Patients with Relapsed High-Grade Serous Ovarian Carcinoma: A Retrospective Study.

Parkinson CA, Gale D, Piskorz AM, Biggs H, Hodgkin C, Addley H, Freeman S, Moyle P, Sala E, Sayal K, Hosking K, Gounaris I, Jimenez-Linan M, Earl HM, Qian W, Rosenfeld N, Brenton JD.

PLoS Med. 2016 Dec 20;13(12):e1002198. doi: 10.1371/journal.pmed.1002198. eCollection 2016 Dec.

27.

Potassium titanyl phosphate laser welding following complete nerve transection.

Bhatt NK, Mejias C, Kallogjeri D, Gale DC, Park AM, Paniello RC.

Laryngoscope. 2017 Jul;127(7):1525-1530. doi: 10.1002/lary.26383. Epub 2016 Nov 16.

PMID:
27859300
28.

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.

29.

Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.

Swift O, Vilar E, Rahman B, Side L, Gale DP.

Genet Test Mol Biomarkers. 2016 Dec;20(12):741-746. doi: 10.1089/gtmb.2016.0050. Epub 2016 Sep 30.

PMID:
27689416
30.

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

Kavanagh D, McGlasson S, Jury A, Williams J, Scolding N, Bellamy C, Gunther C, Ritchie D, Gale DP, Kanwar YS, Challis R, Buist H, Overell J, Weller B, Flossmann O, Blunden M, Meyer EP, Krucker T, Evans SJ, Campbell IL, Jackson AP, Chandran S, Hunt DP.

Blood. 2016 Dec 15;128(24):2824-2833. Epub 2016 Sep 23.

31.

Surgical Treatment of Vestibular Schwannoma: Does Age Matter?

Bowers CA, Gurgel RK, Brimley C, Hawryluk GW, Taggart M, Braden S, Collett T, Gale D, Salzman KL, MacDonald JD.

World Neurosurg. 2016 Dec;96:58-65. doi: 10.1016/j.wneu.2016.08.054. Epub 2016 Aug 23.

PMID:
27565466
32.

Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.

Ai Z, Li M, Liu W, Foo JN, Mansouri O, Yin P, Zhou Q, Tang X, Dong X, Feng S, Xu R, Zhong Z, Chen J, Wan J, Lou T, Yu J, Zhou Q, Fan J, Mao H, Gale D, Barratt J, Armour JA, Liu J, Yu X.

Sci Transl Med. 2016 Jun 29;8(345):345ra88. doi: 10.1126/scitranslmed.aaf2106.

PMID:
27358498
33.

Lipoprotein-associated phospholipase A2 (Lp-PLA2) as a therapeutic target to prevent retinal vasopermeability during diabetes.

Canning P, Kenny BA, Prise V, Glenn J, Sarker MH, Hudson N, Brandt M, Lopez FJ, Gale D, Luthert PJ, Adamson P, Turowski P, Stitt AW.

Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):7213-8. doi: 10.1073/pnas.1514213113. Epub 2016 Jun 13.

34.

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.

35.

Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.

Lin FJ, Lu W, Gale D, Yao Y, Zou R, Bian F, Jiang GR.

Exp Ther Med. 2016 Apr;11(4):1249-1252. Epub 2016 Jan 29.

36.

Photoluminescence detection of 2,4,6-trinitrotoluene (TNT) binding on diatom frustule biosilica functionalized with an anti-TNT monoclonal antibody fragment.

Zhen L, Ford N, Gale DK, Roesijadi G, Rorrer GL.

Biosens Bioelectron. 2016 May 15;79:742-8. doi: 10.1016/j.bios.2016.01.002. Epub 2016 Jan 4.

PMID:
26774089
37.

Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century.

Chan MM, Gale DP.

Clin Med (Lond). 2015 Dec;15(6):576-80. doi: 10.7861/clinmedicine.15-6-576.

PMID:
26621952
38.

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

Phillips EH, Westwood JP, Brocklebank V, Wong EK, Tellez JO, Marchbank KJ, McGuckin S, Gale DP, Connolly J, Goodship TH, Kavanagh D, Scully MA.

J Thromb Haemost. 2016 Jan;14(1):175-85. doi: 10.1111/jth.13189. Epub 2016 Jan 11.

39.

Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer.

Murtaza M, Dawson SJ, Pogrebniak K, Rueda OM, Provenzano E, Grant J, Chin SF, Tsui DW, Marass F, Gale D, Ali HR, Shah P, Contente-Cuomo T, Farahani H, Shumansky K, Kingsbury Z, Humphray S, Bentley D, Shah SP, Wallis M, Rosenfeld N, Caldas C.

Nat Commun. 2015 Nov 4;6:8760. doi: 10.1038/ncomms9760.

40.

Novel CCR3 Antagonists Are Effective Mono- and Combination Inhibitors of Choroidal Neovascular Growth and Vascular Permeability.

Nagai N, Ju M, Izumi-Nagai K, Robbie SJ, Bainbridge JW, Gale DC, Pierre E, Krauss AH, Adamson P, Shima DT, Ng YS.

Am J Pathol. 2015 Sep;185(9):2534-49. doi: 10.1016/j.ajpath.2015.04.029. Epub 2015 Jul 16.

41.

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

Levine AP, Connor TM, Oygar DD, Neild GH, Segal AW, Maxwell PH, Gale DP.

BMC Genomics. 2015 Mar 10;16:163. doi: 10.1186/s12864-015-1360-4.

42.

The role of lipoprotein-associated phospholipase A2 in a murine model of experimental autoimmune uveoretinitis.

Crawford GL, Boldison J, Copland DA, Adamson P, Gale D, Brandt M, Nicholson LB, Dick AD.

PLoS One. 2015 Apr 15;10(4):e0122093. doi: 10.1371/journal.pone.0122093. eCollection 2015.

43.

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale DP, Sayer JA.

Clin Kidney J. 2015 Feb;8(1):113-9. doi: 10.1093/ckj/sfu129. Epub 2014 Dec 5.

44.

Spatial and temporal heterogeneity in high-grade serous ovarian cancer: a phylogenetic analysis.

Schwarz RF, Ng CK, Cooke SL, Newman S, Temple J, Piskorz AM, Gale D, Sayal K, Murtaza M, Baldwin PJ, Rosenfeld N, Earl HM, Sala E, Jimenez-Linan M, Parkinson CA, Markowetz F, Brenton JD.

PLoS Med. 2015 Feb 24;12(2):e1001789. doi: 10.1371/journal.pmed.1001789. eCollection 2015 Feb.

45.

Assessing the spatial and temporal variability of diffusive methane and nitrous oxide emissions from subtropical freshwater reservoirs.

Musenze RS, Grinham A, Werner U, Gale D, Sturm K, Udy J, Yuan Z.

Environ Sci Technol. 2014 Dec 16;48(24):14499-507. doi: 10.1021/es505324h. Epub 2014 Dec 4.

PMID:
25409278
46.

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.

Lin F, Bian F, Zou J, Wu X, Shan J, Lu W, Yao Y, Jiang G, Gale DP.

BMC Nephrol. 2014 Nov 7;15:175. doi: 10.1186/1471-2369-15-175.

47.

Changing the choice architecture of ageing: live different and 'catch old'.

Gale D.

New Bioeth. 2014;20(2):124-40. doi: 10.1179/2050287714Z.00000000048.

PMID:
25344010
48.

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, Fasel D, Lata S, Prakash S, Shapiro S, Fischman C, Snyder HJ, Appel G, Izzi C, Viola BF, Dallera N, Del Vecchio L, Barlassina C, Salvi E, Bertinetto FE, Amoroso A, Savoldi S, Rocchietti M, Amore A, Peruzzi L, Coppo R, Salvadori M, Ravani P, Magistroni R, Ghiggeri GM, Caridi G, Bodria M, Lugani F, Allegri L, Delsante M, Maiorana M, Magnano A, Frasca G, Boer E, Boscutti G, Ponticelli C, Mignani R, Marcantoni C, Di Landro D, Santoro D, Pani A, Polci R, Feriozzi S, Chicca S, Galliani M, Gigante M, Gesualdo L, Zamboli P, Battaglia GG, Garozzo M, Maixnerová D, Tesar V, Eitner F, Rauen T, Floege J, Kovacs T, Nagy J, Mucha K, Pączek L, Zaniew M, Mizerska-Wasiak M, Roszkowska-Blaim M, Pawlaczyk K, Gale D, Barratt J, Thibaudin L, Berthoux F, Canaud G, Boland A, Metzger M, Panzer U, Suzuki H, Goto S, Narita I, Caliskan Y, Xie J, Hou P, Chen N, Zhang H, Wyatt RJ, Novak J, Julian BA, Feehally J, Stengel B, Cusi D, Lifton RP, Gharavi AG.

Nat Genet. 2014 Nov;46(11):1187-96. doi: 10.1038/ng.3118. Epub 2014 Oct 12.

49.

The 2014International Workshop on Alport Syndrome.

Miner JH, Baigent C, Flinter F, Gross O, Judge P, Kashtan CE, Lagas S, Savige J, Blatt D, Ding J, Gale DP, Midgley JP, Povey S, Prunotto M, Renault D, Skelding J, Turner AN, Gear S.

Kidney Int. 2014 Oct;86(4):679-84. doi: 10.1038/ki.2014.229. Epub 2014 Jul 2.

50.

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Adam J, Connor TM, Wood K, Lewis D, Naik R, Gale DP, Sayer JA.

Clin Kidney J. 2014 Apr;7(2):197-200. Epub 2013 Dec 18.

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