Results 141 to 150 of about 3,609 (206)

Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease. [PDF]

Clin J Am Soc Nephrol
Cogal AG, Ali AE, Arnous MG, Alhadi A, Zhou LT, Arroyo J, Seide BM, Rossler KJ, Reynolds LM, Kennedy GN, Elbarougy DE, Goldfarb DS, Milliner DS, Sas DJ, Lieske JC, Harris PC, Investigators of the Rare Kidney Stone Consortium.   +16 more
europepmc   +1 more source

Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists. [PDF]

Front Med (Lausanne)
Pintus F, Giordano N, Giordano N, Giachino DF, Mandrile G.   +4 more
europepmc   +1 more source

Cystine crystal nucleation and decay in the context of cystinuria pathogenesis and treatment. [PDF]

RSC Adv
Noble K, Kavanagh ON.
europepmc   +1 more source

8-l-Cystinyl Bis(1,8-diazaspiro[4.5]decane) as an Orally Bioavailable l-Cystine Crystallization Inhibitor for Cystinuria. [PDF]

ACS Med Chem Lett
Hu L, Albanyan H, Yang J, Wang Y, Yang M, Tan X, Zhong X, Ward MD, Sahota A.   +8 more
europepmc   +1 more source

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk. [PDF]

BMC Nephrol
Bayanova M, Bolatov A, Malik D, Sapargaliyeva M, Abdikadirova A, Zhenissova A, Nazarova L, Assykbayev M, Abdugafarov S, Rakhimzhanova S, Suleimenova D, Kuttymuratov G, Ainakulov A, Sailybayeva A, Altynova S, Pya Y.   +15 more
europepmc   +1 more source

Prevalence and characteristics of genetic disease in adult kidney stone formers. [PDF]

Nephrol Dial Transplant
Anderegg MA, Olinger EG, Bargagli M, Geraghty R, Taylor L, Nater A, Bruggmann R, Sayer JA, Vogt B, Schaller A, Fuster DG.   +10 more
europepmc   +1 more source

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits. [PDF]

Front Med (Lausanne)
Li Y, Zhang J, Yin ZJ, Zhou Z, Huang B, Mahmood K, Colville D, Barit D, Auwardt R, Fassett R, Paizis K, Ierino F, Pianta T, Langsford D, Huang M, Savige J.   +15 more
europepmc   +1 more source

Tiopronin-induced Membranous Nephropathy Presenting with IgG4-predominant Staining Pattern. [PDF]

Intern Med
Yamashita J, Hirakawa Y, Sato Y, Abe H, Akiyama S, Maruyama S, Kume H, Nangaku M.   +7 more
europepmc   +1 more source