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10.1007/s00467-007-0479-1 http://scihub22266oqcxt.onion/10.1007/s00467-007-0479-1 17437132!1994209!17437132     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=17437132&cmd=llinks): Failed to open stream: HTTP request failed! 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Genetic approaches to human renal agenesis/hypoplasia and dysplasia |pdf=|usr=}}{{17437132}} gab.com Text Genetic approaches to human renal agenesis/hypoplasia and dysplasia JO: Pediatr Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=17437132 #FOAvip Congenital abnormalities of the kidney and urinary tract are frequently observed in children and represent a significant cause of morbidity and mortality. These conditions are phenotypically variable, often affecting several segments of the urinary tract simultaneously, making clinical classification and diagnosis difficult. Renal agenesis/hypoplasia and dysplasia account for a significant portion of these anomalies, and a genetic contribution to its cause is being increasingly recognized. Nevertheless, overlap between diseases and challenges in clinical diagnosis complicate studies attempting to discover new genes underlying this anomaly. Most of the insights in kidney development derive from studies in mouse models or from rare, syndromic forms of human developmental disorders of the kidney and urinary tract. The genes implicated have been shown to regulate the reciprocal induction between the ureteric bud and the metanephric mesenchyme. Strategies to find genes causing renal agenesis/hypoplasia and dysplasia vary depending on the characteristics of the study population available. The approaches range from candidate gene association or resequencing studies to traditional linkage studies, using outbred pedigrees or genetic isolates, to search for structural variation in the genome. Each of these strategies has advantages and pitfalls and some have led to significant discoveries in human disease. However, renal agenesis/hypoplasia and dysplasia still represents a challenge, both for the clinicians who attempt a precise diagnosis and for the geneticist who tries to unravel the genetic basis, and a better classification requires molecular definition to be retrospectively improved. The goal appears to be feasible with the large multicentric collaborative groups that share the same objectives and resources. Twit Text FOAVip Genetic approaches to human renal agenesis/hypoplasia and dysplasia ????Pediatr Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=17437132 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=17437132 #FOAvip English Wikipedia <ref>{{Cite pmid|17437132}}</ref> Genetic approaches to human renal agenesis/hypoplasia and dysplasia #MMPMID17437132 Sanna-Cherchi S; Caridi G; Weng PL; Scolari F; Perfumo F; Gharavi AG; Ghiggeri GM Pediatr Nephrol 2007[Oct]; 22 (10): 1675-84 PMID17437132show ga Congenital abnormalities of the kidney and urinary tract are frequently observed in children and represent a significant cause of morbidity and mortality. These conditions are phenotypically variable, often affecting several segments of the urinary tract simultaneously, making clinical classification and diagnosis difficult. Renal agenesis/hypoplasia and dysplasia account for a significant portion of these anomalies, and a genetic contribution to its cause is being increasingly recognized. Nevertheless, overlap between diseases and challenges in clinical diagnosis complicate studies attempting to discover new genes underlying this anomaly. Most of the insights in kidney development derive from studies in mouse models or from rare, syndromic forms of human developmental disorders of the kidney and urinary tract. The genes implicated have been shown to regulate the reciprocal induction between the ureteric bud and the metanephric mesenchyme. Strategies to find genes causing renal agenesis/hypoplasia and dysplasia vary depending on the characteristics of the study population available. The approaches range from candidate gene association or resequencing studies to traditional linkage studies, using outbred pedigrees or genetic isolates, to search for structural variation in the genome. Each of these strategies has advantages and pitfalls and some have led to significant discoveries in human disease. However, renal agenesis/hypoplasia and dysplasia still represents a challenge, both for the clinicians who attempt a precise diagnosis and for the geneticist who tries to unravel the genetic basis, and a better classification requires molecular definition to be retrospectively improved. The goal appears to be feasible with the large multicentric collaborative groups that share the same objectives and resources. |Animals[MESH] |Congenital Abnormalities/*genetics/mortality[MESH] |Disease Models, Animal[MESH] |Genetic Variation[MESH] |Genome[MESH] |Humans[MESH] |Kidney/*abnormalities[MESH] |Mice[MESH]Genetic approaches to human renal agenesis/hypoplasia and dysplasia (epmc).pdf DeepDyve Pubget Overpricing