Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1186/s13052-015-0150-6 http://scihub22266oqcxt.onion/10.1186/s13052-015-0150-6 C4477322!4477322!26103969     free     free     free Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Ital+J+Pediatr 2015 ; 41 (ä): ä Nephropedia Template TP {{tp|p=26103969|t=2015. NKX2 1-Related Disorders: a novel mutation with mild clinical presentation |pdf=|usr=}}{{26103969}} gab.com Text NKX2 1-Related Disorders: a novel mutation with mild clinical presentation JO: Ital J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=26103969 #FOAvip Background: A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case of an infant with a novel mutation of the NKX2.1 gene characterized by mild clinical presentation.Aim of the study was to elucidate the genotype-phenotype correlation in our patient. Methods: We performed genetic analysis of the NKX2.1 gene in an infant with no neonatal respiratory distress and near-normal results at neonatal screening test for congenital hypothyroidism, choreoathetosis, ataxia and delayed independent walking. Results: A novel mutation of the NKX2.1 gene has been identified, that is responsible for a mild framework of congenital hypothyroidism and neurological symptoms. Conclusions: The frequency of congenital hypothyroidism cases associated with NKX2.1 mutations is expected to be higher in a subgroup of patients, selected according to the neurological presentation. In these patients the analysis of NKX2.1 mutational status is recommended. Twit Text FOAVip NKX2 1-Related Disorders: a novel mutation with mild clinical presentation ????Ital J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=26103969 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26103969 #FOAvip English Wikipedia <ref>{{Cite pmid|26103969}}</ref> NKX2 1-Related Disorders: a novel mutation with mild clinical presentation #MMPMID26103969 Monti S; Nicoletti A; Cantasano A; Krude H; Cassio A Ital J Pediatr 2015[]; 41 (ä): ä PMID26103969show ga Background: A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case of an infant with a novel mutation of the NKX2.1 gene characterized by mild clinical presentation.Aim of the study was to elucidate the genotype-phenotype correlation in our patient. Methods: We performed genetic analysis of the NKX2.1 gene in an infant with no neonatal respiratory distress and near-normal results at neonatal screening test for congenital hypothyroidism, choreoathetosis, ataxia and delayed independent walking. Results: A novel mutation of the NKX2.1 gene has been identified, that is responsible for a mild framework of congenital hypothyroidism and neurological symptoms. Conclusions: The frequency of congenital hypothyroidism cases associated with NKX2.1 mutations is expected to be higher in a subgroup of patients, selected according to the neurological presentation. In these patients the analysis of NKX2.1 mutational status is recommended. äNKX2 1-Related Disorders: a novel mutation with mild clinical presenta(epmc).pdf DeepDyve Pubget Overpricing