about
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport SyndromeSpanish guidelines for the management of autosomal dominant polycystic kidney diseaseCollagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failurePrevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney diseaseClinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratoryX chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance.High resolution X chromosome-specific array-CGH detects new CNVs in infertile malesDiagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencingClinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.Renal replacement therapy in ADPKD patients: a 25-year survey based on the Catalan registry.Insight into response to mTOR inhibition when PKD1 and TSC2 are mutatedTargeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityX-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsHLA-DQA1 and PLA2R1 polymorphisms and risk of idiopathic membranous nephropathy.Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNAContribution of the TTC21B gene to glomerular and cystic kidney diseases.Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomicsClinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.Renal sodium transporters are increased in urinary exosomes of cyclosporine-treated kidney transplant patients.Genetic predisposition to early recurrence in clinically localized prostate cancer.The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism.Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).Gene expression profiles in prostate cancer: identification of candidate non-invasive diagnostic markers.Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.Utility of urothelial mRNA markers in blood for staging and monitoring bladder cancer.Gene expression signature in urine for diagnosing and assessing aggressiveness of bladder urothelial carcinoma.Partially degraded RNA from bladder washing is a suitable sample for studying gene expression profiles in bladder cancer.Early Macrophage Infiltration and Sustained Inflammation in Kidneys From Deceased Donors Are Associated With Long-Term Renal Function.New mutation in 2 pediatric patients with Alport syndrome. Prognostic significance of genotype.Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromasSchwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulationsReply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency
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