Malformation of the Kidneys
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| + | {{hoprn|http://www.kidney.de/bdom/Kidney%20%28Malformation%29.php}} | ||
| + | ''default chapter. see individual diseases...'' | ||
==Developmental Mechanisms of the renal malformations== | ==Developmental Mechanisms of the renal malformations== | ||
{{tp|p=9621298|t=Advances in the cell biology and genetics of human kidney malformations |pdf=http://jasn.asnjournals.org/content/9/6/1114.full.pdf}} | {{tp|p=9621298|t=Advances in the cell biology and genetics of human kidney malformations |pdf=http://jasn.asnjournals.org/content/9/6/1114.full.pdf}} | ||
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{{tp|p=15060203|t=The developing kidney and environmental toxins |pdf=http://pediatrics.aappublications.org/content/113/Supplement_3/1084.full.pdf|usr=|}} | {{tp|p=15060203|t=The developing kidney and environmental toxins |pdf=http://pediatrics.aappublications.org/content/113/Supplement_3/1084.full.pdf|usr=|}} | ||
| − | ==Catamnestic data== | + | ==Catamnestic data / Multiple hereditary diseases== |
{{tp|p=12028433|t=Clinical and genetic epidemiology of inherited renal disease in Newfoundland |pdf=http://www.nature.com/ki/journal/v61/n6/pdf/4492971a.pdf|usr=|}} | {{tp|p=12028433|t=Clinical and genetic epidemiology of inherited renal disease in Newfoundland |pdf=http://www.nature.com/ki/journal/v61/n6/pdf/4492971a.pdf|usr=|}} | ||
| + | {{tp|p=20969579|t=Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes |pdf=http://scholar.google.de/scholar?as_q=Hereditary+kidney+diseases:+highlighting+the+importance+of+classical+Mendelian+phenotypes+&as_sauthors=|usr=|}} | ||
==Agenesis unilateral / bilateral== | ==Agenesis unilateral / bilateral== | ||
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==Mitochondriopathies== | ==Mitochondriopathies== | ||
{{tp|p=18487272|t=Renal function and mitochondrial cytopathy (MC): more questions than answers?|pdf=http://qjmed.oxfordjournals.org/content/qjmed/101/10/755.full.pdf|usr=|}} | {{tp|p=18487272|t=Renal function and mitochondrial cytopathy (MC): more questions than answers?|pdf=http://qjmed.oxfordjournals.org/content/qjmed/101/10/755.full.pdf|usr=|}} | ||
| − | |||
==Methods to identify nephropathic genes== | ==Methods to identify nephropathic genes== | ||
{{tp|p=8301921|t=1993. A molecular approach to inherited kidney disorders |pdf=http://www.nature.com/ki/journal/v44/n6/pdf/ki1993370a.pdf|usr=|}} | {{tp|p=8301921|t=1993. A molecular approach to inherited kidney disorders |pdf=http://www.nature.com/ki/journal/v44/n6/pdf/ki1993370a.pdf|usr=|}} | ||
| + | {{tp|p=20382325|t=Genetic kidney diseases |pdf=http://sm.kidney.de/epmc.php?ep=eu&pmid=20382325&pmc=2898711&ti=Genetic%20kidney%20diseases|usr=|}} | ||
{{tp|p=17657098|t=Advances in genetic detection of kidney disease |pdf=http://www.sjkdt.org/temp/SaudiJKidneyDisTranspl143259-5601163_153331.pdf|usr=|}} | {{tp|p=17657098|t=Advances in genetic detection of kidney disease |pdf=http://www.sjkdt.org/temp/SaudiJKidneyDisTranspl143259-5601163_153331.pdf|usr=|}} | ||
{{tp|p=17437132|t=Genetic approaches to human renal agenesis/hypoplasia and dysplasia |pdf=http://link.springer.com/content/pdf/10.1007%2Fs00467-007-0479-1.pdf|usr=|}} | {{tp|p=17437132|t=Genetic approaches to human renal agenesis/hypoplasia and dysplasia |pdf=http://link.springer.com/content/pdf/10.1007%2Fs00467-007-0479-1.pdf|usr=|}} | ||
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==Screening the neonate== | ==Screening the neonate== | ||
{{tp|p=19663038|t=Postnatal evaluation of infants with an abnormal antenatal renal sonogram |pdf=http://sm.kidney.de/epmc.php?ep=eu&pmid=19663038&pmc=2730885&ti=Postnatal%20evaluation%20of%20infants%20with%20an%20abnormal%20antenatal%20renal%20sonogram|usr=|}} | {{tp|p=19663038|t=Postnatal evaluation of infants with an abnormal antenatal renal sonogram |pdf=http://sm.kidney.de/epmc.php?ep=eu&pmid=19663038&pmc=2730885&ti=Postnatal%20evaluation%20of%20infants%20with%20an%20abnormal%20antenatal%20renal%20sonogram|usr=|}} | ||
| − | |||
==Some personal experience on RTMs== | ==Some personal experience on RTMs== | ||
{{tp|p=20603712|t=Renal malformations associated with mutations of developmental genes: messages from the clinic |pdf=http://sm.kidney.de/epmc.php?ep=eu&pmid=20603712&pmc=2937138&ti=Renal%20malformations%20associated%20with%20mutations%20of%20developmental%20genes:%20messages%20from%20the%20clinic|usr=|}} | {{tp|p=20603712|t=Renal malformations associated with mutations of developmental genes: messages from the clinic |pdf=http://sm.kidney.de/epmc.php?ep=eu&pmid=20603712&pmc=2937138&ti=Renal%20malformations%20associated%20with%20mutations%20of%20developmental%20genes:%20messages%20from%20the%20clinic|usr=|}} | ||
Revision as of 20:20, 27 August 2015
- This is a structured re-compilation of http://www.kidney.de/bdom/Kidney%20%28Malformation%29.php in the BDOM free medical review collection
default chapter. see individual diseases...
Developmental Mechanisms of the renal malformations
| Journal article, free access |
| GET Advances in the cell biology and genetics of human kidney malformations Extract PDF direct |
| Journal article, free access |
| GET Toward an etiological classification of developmental disorders of the kidney and upper urinary tract Extract PDF direct |
| Journal article, free access |
| GET A molecular and genetic view of human renal and urinary tract malformations Extract PDF direct |
| Journal article, free access |
| GET Genetics of human kidney malformations (Editorial) Extract PDF direct |
Teratogenic effects on the developing kidney
| Journal article, free access |
| GET The developing kidney and environmental toxins Extract PDF direct |
Catamnestic data / Multiple hereditary diseases
| Journal article, free access |
| GET Clinical and genetic epidemiology of inherited renal disease in Newfoundland Extract PDF direct |
| Journal article, free access |
| GET Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes Extract PDF direct |
Agenesis unilateral / bilateral
| Journal article, free access |
| GET Congenital renal agenesis: a review Extract PDF direct |
Cystic / dysplastic malformations
| Journal article, free access |
| GET Evolving concepts in human renal dysplasia Extract PDF direct |
Podocyte and slit membrane
| Journal article, free access |
| GET Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations Extract PDF direct |
| Journal article, free access |
| GET Podocyte differentiation and hereditary proteinuria/nephrotic syndromes Extract PDF direct |
Renal Tubular Disorderss
| Journal article, free access |
| GET Inherited renal acidoses Extract PDF direct |
| Journal article, free access |
| GET Genetic causes of hypercalciuric nephrolithiasis Extract PDF direct |
| Journal article, free access |
| GET Genetics of hypercalciuric stone forming diseases Extract PDF direct |
| Journal article, free access |
| GET Renal tubular dysgenesis in Israel: pathologist s experience and literature review Extract PDF direct |
Ion channel associated diseases
| Journal article, free access |
| GET Renal TRPathies Extract PDF direct |
Mitochondriopathies
| Journal article, free access |
| GET Renal function and mitochondrial cytopathy (MC): more questions than answers? Extract PDF direct |
Methods to identify nephropathic genes
| Journal article, free access |
| GET 1993. A molecular approach to inherited kidney disorders Extract PDF direct |
| Journal article, free access |
| GET Genetic kidney diseases Extract PDF direct |
| Journal article, free access |
| GET Advances in genetic detection of kidney disease Extract PDF direct |
| Journal article, free access |
| GET Genetic approaches to human renal agenesis/hypoplasia and dysplasia Extract PDF direct |
Screening the neonate
| Journal article, free access |
| GET Postnatal evaluation of infants with an abnormal antenatal renal sonogram Extract PDF direct |
Some personal experience on RTMs
| Journal article, free access |
| GET Renal malformations associated with mutations of developmental genes: messages from the clinic Extract PDF direct |
