| scholarly article | Q13442814 |
| review article | Q7318358 |
| P6179 | Dimensions Publication ID | 1046229532 |
| P356 | DOI | 10.1007/S00467-013-2706-2 |
| P8608 | Fatcat ID | release_ydgwoeqgcnanxiiut7qxwomnzm |
| P932 | PMC publication ID | 4240914 |
| P698 | PubMed publication ID | 24584572 |
| P5875 | ResearchGate publication ID | 260446319 |
| P2093 | author name string | Carsten Bergmann | |
| P2860 | cites work | The Ciliopathies: An Emerging Class of Human Genetic Disorders | Q22337032 |
| The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein | Q24292750 | ||
| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways | Q24302034 | ||
| Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia | Q24315070 | ||
| A coding-independent function of gene and pseudogene mRNAs regulates tumour biology | Q24632651 | ||
| Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer | Q24633316 | ||
| Autosomal dominant polycystic kidney disease: the last 3 years | Q24656249 | ||
| Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing | Q28285241 | ||
| Complex interactions between genes controlling trafficking in primary cilia | Q28512423 | ||
| A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation | Q28590393 | ||
| Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice | Q28592649 | ||
| Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function | Q28594258 | ||
| The tuberous sclerosis complex | Q29619128 | ||
| Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease | Q79226021 | ||
| Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort | Q80796878 | ||
| Volume progression in polycystic kidney disease | Q94478608 | ||
| Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. | Q52552433 | ||
| Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. | Q52575181 | ||
| Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. | Q53361716 | ||
| Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). | Q53633509 | ||
| Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. | Q55065536 | ||
| Autosomal dominant polycystic kidney disease | Q55898854 | ||
| Two variants on chromosome 17 confer prostate cancer risk and the one in TCF2 protects against type 2 diabetes | Q56968912 | ||
| Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys | Q57718701 | ||
| A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD) | Q57908850 | ||
| Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) | Q57908853 | ||
| A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees | Q63434619 | ||
| Recurrent bacteremia with enteric pathogens in recessive polycystic kidney disease | Q73030895 | ||
| Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease | Q73638895 | ||
| Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood | Q74580767 | ||
| PATHOGENESIS OF POLYCYSTIC KIDNEYS. SURVEY OF RESULTS OF MICRODISSECTION | Q76722109 | ||
| Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). | Q30480074 | ||
| Endothelial cells from humans and mice with polycystic kidney disease are characterized by polyploidy and chromosome segregation defects through survivin down-regulation | Q30497713 | ||
| Clinical and molecular features of Joubert syndrome and related disorders | Q33514006 | ||
| The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence | Q33616456 | ||
| Polycystic kidney disease | Q33709685 | ||
| Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia | Q33740241 | ||
| Primary cilia can both mediate and suppress Hedgehog pathway-dependent tumorigenesis | Q33954530 | ||
| Mutations in multiple PKD genes may explain early and severe polycystic kidney disease | Q34228262 | ||
| Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. | Q34328696 | ||
| Ludwig symposium on biliary disorders--part I. Pathogenesis of ductal plate abnormalities | Q34453830 | ||
| Management of cerebral aneurysms in autosomal dominant polycystic kidney disease | Q34467511 | ||
| Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin. | Q34569800 | ||
| The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease | Q34600282 | ||
| Nephronophthisis-associated ciliopathies | Q34629900 | ||
| Nephronophthisis. | Q34793373 | ||
| Causes of Death in Patients With Tuberous Sclerosis | Q34794286 | ||
| PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats | Q35764727 | ||
| Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. | Q35856772 | ||
| Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis | Q36094107 | ||
| Educational paper: ciliopathies | Q36166406 | ||
| Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data | Q36434951 | ||
| Understanding pathogenic mechanisms in polycystic kidney disease provides clues for therapy | Q36507268 | ||
| Type of PKD1 mutation influences renal outcome in ADPKD. | Q36880400 | ||
| ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 | Q37205532 | ||
| Loss of polycystin-1 causes centrosome amplification and genomic instability | Q37294781 | ||
| The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer | Q37299263 | ||
| Dual and opposing roles of primary cilia in medulloblastoma development | Q37408548 | ||
| Congenital fibrocystic liver diseases | Q37801086 | ||
| mTOR and rapamycin in the kidney: signaling and therapeutic implications beyond immunosuppression | Q37810461 | ||
| Epithelial cell polarity, stem cells and cancer | Q37968480 | ||
| Polycystic kidney disease: neoplasia in disguise | Q38140599 | ||
| Screening for intracranial aneurysm in 355 patients with autosomal-dominant polycystic kidney disease | Q39963213 | ||
| The aneuploidy paradox in cell growth and tumorigenesis | Q41865974 | ||
| Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America | Q44503166 | ||
| Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. | Q48456965 | ||
| P275 | copyright license | Creative Commons Attribution 2.0 Generic | Q19125117 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | ciliopathy | Q203031 |
| autosomal dominant polycystic kidney | Q2732398 | ||
| autosomal recessive polycystic kidney | Q3395618 | ||
| polycystic kidney disease | Q60195313 | ||
| P304 | page(s) | 15-30 | |
| P577 | publication date | 2015-01-01 | |
| P1433 | published in | Pediatric Nephrology | Q15749796 |
| P1476 | title | ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies | |
| P478 | volume | 30 |
| Q98178893 | Advances in Autosomal Dominant Polycystic Kidney Disease: A Clinical Review |
| Q38673027 | Advances in renal genetic diagnosis |
| Q38255292 | An approach to cystic kidney diseases: the clinician's view |
| Q35554078 | An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease |
| Q92400757 | Angiotensinogen and interleukin 18 in serum and urine of children with kidney cysts |
| Q55646143 | Autosomal Recessive Polycystic Kidney Disease. |
| Q94555205 | Autosomal-dominant polycystic kidney disease: tolvaptan use in adolescents and young adults with rapid progression |
| Q38808055 | Biliary Tract and Liver Complications in Polycystic Kidney Disease. |
| Q55601184 | Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report. |
| Q38759596 | Ciliopathies: Genetics in Pediatric Medicine |
| Q36741767 | Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. |
| Q39084983 | Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities |
| Q47437137 | Ectopic Phosphorylated Creb Marks Dedifferentiated Proximal Tubules in Cystic Kidney Disease |
| Q39285003 | Emerging Therapies for Childhood Polycystic Kidney Disease |
| Q28079756 | Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease |
| Q93128241 | Exome sequencing of Saudi Arabian patients with ADPKD |
| Q64241140 | Genetic Effects on Dispersion in Urinary Albumin and Creatinine in Three House Mouse () Cohorts |
| Q50301021 | Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses |
| Q64026793 | Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement |
| Q90170833 | Implications of early diagnosis of autosomal dominant polycystic kidney disease: A post hoc analysis of the TEMPO 3:4 trial |
| Q92227120 | International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people |
| Q49305361 | Is It Ethical to Test Apparently "Healthy" Children for Autosomal Dominant Polycystic Kidney Disease and Risk Medicalizing Thousands? |
| Q39012190 | Motile and non-motile cilia in human pathology: from function to phenotypes |
| Q91926245 | Multiple unilateral subcapsular cortical hemorrhagic cystic disease of the kidney: CT and MRI findings and clinical characteristic |
| Q92646478 | Novel mutations of PKHD1 and AHI1 identified in two families with cystic renal disease |
| Q94519328 | Polycystic kidney disease |
| Q53147353 | Polycystic kidney disease: DZIP1L defines a new functional zip code for autosomal recessive PKD. |
| Q38744693 | Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease |
| Q34852544 | Recent advances in primary ciliary dyskinesia genetics. |
| Q37414386 | Recurrent Cholangitis in a Patient with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Caroli's Disease |
| Q33679233 | Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease |
| Q89629635 | The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases |
| Q26852534 | The Liver and Polycystic Kidney Disease |
| Q38885083 | The expanding phenotypic spectra of kidney diseases: insights from genetic studies |
| Q63682146 | Urinary proteome signature of Renal Cysts and Diabetes syndrome in children |
| Q57640988 | Urologic Diseases Germane to the Medical Renal Biopsy: Review of a Large Diagnostic Experience in the Context of the Renal Architecture and Its Environs |
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