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10.1055/s-0035-1564443 http://scihub22266oqcxt.onion/10.1055/s-0035-1564443 C4918721!4918721!27617127     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 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 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 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Pediatr+Genet 2015 ; 4 (3): 159-67 Nephropedia Template TP {{tp|p=27617127|t=2015. Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith?Magenis and Potocki?Lupski Syndromes |pdf=|usr=}}{{27617127}} gab.com Text Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith Magenis and Potocki Lupski Syndromes JO: J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27617127 #FOAvip Smith?Magenis syndrome (SMS) and Potocki?Lupski syndrome (PTLS) are reciprocal contiguous gene syndromes within the well-characterized 17p11.2 region. Approximately 3.6 Mb microduplication of 17p11.2, known as PTLS, represents the mechanistically predicted homologous recombination reciprocal of the SMS microdeletion, both resulting in multiple congenital anomalies. Mouse model studies have revealed that the retinoic acid?inducible 1 gene (RAI1) within the SMS and PTLS critical genomic interval is the dosage-sensitive gene responsible for the major phenotypic features in these disorders. Even though PTLS and SMS share the same genomic region, clinical manifestations and behavioral issues are distinct and in fact some mirror traits may be on opposite ends of a given phenotypic spectrum. We describe the neurobehavioral phenotypes of SMS and PTLS patients during different life phases as well as clinical guidelines for diagnosis and a multidisciplinary approach once diagnosis is confirmed by array comparative genomic hybridization or RAI1 gene sequencing. The main goal is to increase awareness of these rare disorders because an earlier diagnosis will lead to more timely developmental intervention and medical management which will improve clinical outcome. Twit Text FOAVip Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith Magenis and Potocki Lupski Syndromes ????J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27617127 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27617127 #FOAvip English Wikipedia <ref>{{Cite pmid|27617127}}</ref> Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith?Magenis and Potocki?Lupski Syndromes #MMPMID27617127 Neira-Fresneda J; Potocki L J Pediatr Genet 2015[Sep]; 4 (3): 159-67 PMID27617127show ga Smith?Magenis syndrome (SMS) and Potocki?Lupski syndrome (PTLS) are reciprocal contiguous gene syndromes within the well-characterized 17p11.2 region. Approximately 3.6 Mb microduplication of 17p11.2, known as PTLS, represents the mechanistically predicted homologous recombination reciprocal of the SMS microdeletion, both resulting in multiple congenital anomalies. Mouse model studies have revealed that the retinoic acid?inducible 1 gene (RAI1) within the SMS and PTLS critical genomic interval is the dosage-sensitive gene responsible for the major phenotypic features in these disorders. Even though PTLS and SMS share the same genomic region, clinical manifestations and behavioral issues are distinct and in fact some mirror traits may be on opposite ends of a given phenotypic spectrum. We describe the neurobehavioral phenotypes of SMS and PTLS patients during different life phases as well as clinical guidelines for diagnosis and a multidisciplinary approach once diagnosis is confirmed by array comparative genomic hybridization or RAI1 gene sequencing. The main goal is to increase awareness of these rare disorders because an earlier diagnosis will lead to more timely developmental intervention and medical management which will improve clinical outcome. äNeurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smi(epmc).pdf DeepDyve Pubget Overpricing