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.

10.1086/432082 http://scihub22266oqcxt.onion/10.1086/432082 15942875/?report=reader!1224542!15942875     free     free     free Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2005 ; 77 (2): 193-204 Nephropedia Template TP {{tp|p=15942875|t=2005. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations |pdf=|usr=}}{{15942875}} gab.com Text Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=15942875 #FOAvip We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD1 (referred to as "NSD1-positive individuals"), through analyses of 530 subjects with diverse phenotypes. Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occurred only in functional domains (P < 2 x 10(-16)). Sotos syndrome was clinically diagnosed in 99% of NSD1-positive individuals, independent of the molecular analyses, indicating that NSD1 aberrations are essentially specific to this condition. Furthermore, our data suggest that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions. We reviewed the clinical phenotypes of 239 NSD1-positive individuals. Facial dysmorphism, learning disability, and childhood overgrowth were present in 90% of the individuals. However, both the height and head circumference of 10% of the individuals were within the normal range, indicating that overgrowth is not obligatory for the diagnosis of Sotos syndrome. A broad spectrum of associated clinical features was also present, the occurrence of which was largely independent of genotype, since individuals with identical mutations had different phenotypes. We compared the phenotypes of patients with intragenic NSD1 mutations with those of patients with 5q35 microdeletions. Patients with microdeletions had less-prominent overgrowth (P = .0003) and more-severe learning disability (P = 3 x 10(-9)) than patients with mutations. However, all features present in patients with microdeletions were also observed in patients with mutations, and there was no correlation between deletion size and the clinical phenotype, suggesting that the deletion of additional genes in patients with 5q35 microdeletions has little specific effect on phenotype. We identified only 13 familial cases. The reasons for the low vertical transmission rate are unclear, although familial cases were more likely than nonfamilial cases (P = .005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness. Twit Text FOAVip Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=15942875 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=15942875 #FOAvip English Wikipedia <ref>{{Cite pmid|15942875}}</ref> Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations #MMPMID15942875 Tatton-Brown K; Douglas J; Coleman K; Baujat G; Cole TR; Das S; Horn D; Hughes HE; Temple IK; Faravelli F; Waggoner D; Turkmen S; Cormier-Daire V; Irrthum A; Rahman N Am J Hum Genet 2005[Aug]; 77 (2): 193-204 PMID15942875show ga We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD1 (referred to as "NSD1-positive individuals"), through analyses of 530 subjects with diverse phenotypes. Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occurred only in functional domains (P < 2 x 10(-16)). Sotos syndrome was clinically diagnosed in 99% of NSD1-positive individuals, independent of the molecular analyses, indicating that NSD1 aberrations are essentially specific to this condition. Furthermore, our data suggest that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions. We reviewed the clinical phenotypes of 239 NSD1-positive individuals. Facial dysmorphism, learning disability, and childhood overgrowth were present in 90% of the individuals. However, both the height and head circumference of 10% of the individuals were within the normal range, indicating that overgrowth is not obligatory for the diagnosis of Sotos syndrome. A broad spectrum of associated clinical features was also present, the occurrence of which was largely independent of genotype, since individuals with identical mutations had different phenotypes. We compared the phenotypes of patients with intragenic NSD1 mutations with those of patients with 5q35 microdeletions. Patients with microdeletions had less-prominent overgrowth (P = .0003) and more-severe learning disability (P = 3 x 10(-9)) than patients with mutations. However, all features present in patients with microdeletions were also observed in patients with mutations, and there was no correlation between deletion size and the clinical phenotype, suggesting that the deletion of additional genes in patients with 5q35 microdeletions has little specific effect on phenotype. We identified only 13 familial cases. The reasons for the low vertical transmission rate are unclear, although familial cases were more likely than nonfamilial cases (P = .005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness. |Amino Acid Sequence[MESH] |Chromosomes, Human, Pair 5/genetics[MESH] |Exons[MESH] |Facies[MESH] |Female[MESH] |Frameshift Mutation[MESH] |Gene Deletion[MESH] |Genotype[MESH] |Growth Disorders/*genetics/pathology[MESH] |Histone Methyltransferases[MESH] |Histone-Lysine N-Methyltransferase[MESH] |Homozygote[MESH] |Humans[MESH] |Intracellular Signaling Peptides and Proteins/*genetics[MESH] |Learning Disabilities/*genetics/pathology[MESH] |Male[MESH] |Molecular Sequence Data[MESH] |Mutation[MESH] |Mutation, Missense[MESH] |Nuclear Proteins/*genetics[MESH] |Phenotype[MESH] |Polymorphism, Genetic[MESH] |Prognosis[MESH] |Sequence Homology, Amino Acid[MESH] |Syndrome[MESH]Genotype-phenotype associations in Sotos syndrome: an analysis of 266 (epmc).pdf DeepDyve Pubget Overpricing