| scholarly article | Q13442814 |
| P50 | author | Corinne Antignac | Q28320591 |
| Gian Marco Ghiggeri | Q37841673 | ||
| Giovanni Montini | Q42424275 | ||
| Vincent Morinière | Q51916298 | ||
| Aleksandra Żurowska | Q112571552 | ||
| P2093 | author name string | Franz Schaefer | |
| Elke Wühl | |||
| Remi Salomon | |||
| Stefanie Weber | |||
| Tanja Knüppel | |||
| Amira Peco-Antic | |||
| Sevgi Mir | |||
| Otto Mehls | |||
| Marina Charbit | |||
| Jirí Dusek | |||
| Augustina Jankauskiené | |||
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| P433 | issue | 10 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | kidney development | Q2336077 |
| Spalt like transcription factor 1 | Q21125156 | ||
| renal hypodysplasia | Q51327021 | ||
| P304 | page(s) | 2864-2870 | |
| P577 | publication date | 2006-09-13 | |
| P1433 | published in | Journal of the American Society of Nephrology | Q17123893 |
| P1476 | title | Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study | |
| P478 | volume | 17 |
| Q37080814 | "Treasure your exceptions": recent advances in molecular genetics of glomerular disease |
| Q90436766 | A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT) |
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| Q81402172 | A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes |
| Q42481566 | A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury |
| Q37535775 | A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development. |
| Q36009572 | A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update |
| Q49456505 | A questionnaire survey of radiological diagnosis and management of renal dysplasia in children |
| Q34597925 | A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse. |
| Q51789312 | Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformations. |
| Q88616309 | Anhydramnios in the Setting of Renal Malformations: The National Institutes of Health Workshop Summary |
| Q37238996 | Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution. |
| Q54916334 | Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing. |
| Q34588344 | Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney |
| Q93133683 | Autosomal dominant tubulointerstitial kidney disease |
| Q55343661 | Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy. |
| Q37555042 | Cell and molecular biology of kidney development |
| Q37026249 | Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder |
| Q46305073 | Chronic kidney disease: Prenatal risk factors for kidney and urinary tract anomalies |
| Q38174008 | Clinical implications of the solitary functioning kidney. |
| Q38553378 | Clinical utility gene card for: renal coloboma (Papillorenal) syndrome |
| Q36474198 | Comorbidities in chronic pediatric peritoneal dialysis patients: a report of the International Pediatric Peritoneal Dialysis Network |
| Q35159689 | Comparative gene expression analysis of genital tubercle development reveals a putative appendicular Wnt7 network for the epidermal differentiation |
| Q34135175 | Congenital Anomalies of Kidney and Urinary Tract |
| Q38736849 | Congenital Anomalies of the Kidney and Urinary Tract in Children Born Small for Gestational Age. |
| Q99630787 | Congenital Anomalies of the Kidney and Urinary Tract: A Clinical Review |
| Q64054916 | Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies |
| Q35608451 | Congenital anomalies of kidney and hand: a review |
| Q35997775 | Congenital anomalies of the kidney and urinary tract: a genetic disorder? |
| Q38270948 | Congenital anomalies of the kidney and urinary tract: an embryogenetic review |
| Q36807618 | Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. |
| Q36451480 | Copy-number disorders are a common cause of congenital kidney malformations |
| Q50615779 | Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract |
| Q55422850 | De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia. |
| Q36741767 | Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. |
| Q90047775 | Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays |
| Q38822350 | Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract |
| Q90004529 | Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children |
| Q36740991 | Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia |
| Q53852900 | Endocrine abnormalities in Townes-Brocks syndrome. |
| Q42501840 | Epididymis-like Tubules in Adult Renal Hypodysplasia: Immunohistochemical Features Indicate a Mesonephric Origin |
| Q57646454 | Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic |
| Q47073818 | Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations |
| Q52578627 | Expression profiles of congenital renal dysplasia reveal new insights into renal development and disease. |
| Q96954623 | Factors Associated With the Development of Chronic Kidney Disease in Children With Congenital Anomalies of the Kidney and Urinary Tract |
| Q39686349 | Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases |
| Q38247213 | From ureteric bud to the first glomeruli: genes, mediators, kidney alterations. |
| Q36658499 | Genetic Basis of Ureterocele |
| Q39242469 | Genetic Syndromes Affecting Kidney Development |
| Q36013624 | Genetic approaches to human renal agenesis/hypoplasia and dysplasia |
| Q47224735 | Genetic basis of human congenital anomalies of the kidney and urinary tract |
| Q35097858 | Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene |
| Q38568437 | Genetic, environmental, and epigenetic factors involved in CAKUT. |
| Q38731983 | Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. |
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| Q90319801 | Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion |
| Q37682708 | Growth and body composition in very young SGA children. |
| Q54441396 | HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. |
| Q35670536 | HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort |
| Q51782402 | HNF1B deletions in patients with young-onset diabetes but no known renal disease. |
| Q34658412 | HNF1B mutations associate with hypomagnesemia and renal magnesium wasting |
| Q38544627 | HNF1B-associated clinical phenotypes: the kidney and beyond |
| Q38299096 | HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. |
| Q37802413 | Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes |
| Q62937752 | High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT |
| Q51792719 | Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis. |
| Q38159948 | Hnf1beta and nephron segmentation. |
| Q37132008 | Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome |
| Q39375974 | Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis |
| Q64026793 | Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement |
| Q43872667 | Imaging strategies for vesicoureteral reflux diagnosis. |
| Q24321323 | Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans |
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| Q35677743 | Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33 |
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| Q34021354 | Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. |
| Q38260184 | Mdm2 is required for maintenance of the nephrogenic niche |
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| Q34103492 | Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract |
| Q64962270 | Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options. |
| Q35542097 | Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome |
| Q35161865 | Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT) |
| Q33692509 | Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract |
| Q24309178 | Mutations in DSTYK and dominant urinary tract malformations |
| Q40322739 | Mutations in the RARE and MARE regulatory sequences of HNF1β are not a frequent cause of kidney/urinary tract malformation |
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| Q92312101 | Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes? |
| Q28272436 | Neonatal vascularization and oxygen tension regulate appropriate perinatal renal medulla/papilla maturation |
| Q39107139 | Nephron number, hypertension, and CKD: physiological and genetic insight from humans and animal models |
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| Q58442488 | New insights into the role of HNF-1β in kidney (patho)physiology |
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| Q56774780 | PAX2 polymorphisms and congenital abnormalities of the kidney and urinary tract in a Brazilian pediatric population: evidence for a role in vesicoureteral reflux |
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| Q37833899 | Prenatal programming-effects on blood pressure and renal function |
| Q53473853 | Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT. |
| Q50225969 | Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing. |
| Q87980169 | Recessive mutations in CAKUT and VACTERL association |
| Q37886657 | Renal coloboma syndrome. |
| Q39119810 | Renal development in the fetus and premature infant |
| Q50607500 | Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling |
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| Q38724083 | Renal dysplasia in the neonate |
| Q36719225 | Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling |
| Q34117987 | Renal malformations associated with mutations of developmental genes: messages from the clinic |
| Q37150737 | Renal tract malformations: perspectives for nephrologists |
| Q89752910 | Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease |
| Q61409816 | SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract |
| Q90038226 | SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes |
| Q36980350 | Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. |
| Q26862475 | Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans |
| Q48786869 | Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract |
| Q26770522 | The Good and Bad of β-Catenin in Kidney Development and Renal Dysplasia |
| Q38217616 | The HNF1B score is a simple tool to select patients for HNF1B gene analysis |
| Q39000495 | The contribution of branching morphogenesis to kidney development and disease. |
| Q90712113 | The copy number variation landscape of congenital anomalies of the kidney and urinary tract |
| Q38885083 | The expanding phenotypic spectra of kidney diseases: insights from genetic studies |
| Q39694457 | The many faces of RET dysfunction in kidney |
| Q46640376 | Transcription factor HNF1beta and novel partners affect nephrogenesis |
| Q51163035 | Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. |
| Q35878013 | Two novel EGFP insertion alleles reveal unique aspects of Pax2 function in embryonic and adult kidneys |
| Q33678398 | Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy |
| Q37972823 | Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. |
| Q38703307 | Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology |
| Q84093650 | [Congenital anomalies of renal development: genetic and radiological classification] |
| Q34726881 | β-catenin causes renal dysplasia via upregulation of Tgfβ2 and Dkk1 |
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