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10.1136/jmg.2008.058156 http://scihub22266oqcxt.onion/10.1136/jmg.2008.058156 18812405!3236717!18812405     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Med+Genet 2009 ; 46 (12): 847-55 Nephropedia Template TP {{tp|p=18812405|t=2009. 2q23 1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?|pdf=|usr=}}{{18812405}} gab.com Text 2q23 1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features JO: J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=18812405 #FOAvip BACKGROUND: Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With this genotype-first approach, the 2q22.3q23.3 deletion was recently described as a novel microdeletion syndrome. The authors report two unrelated patients with a de novo interstitial deletion mapping in this genomic region and presenting similar "pseudo-Angelman" phenotypes, including severe psychomotor retardation, speech impairment, epilepsy, microcephaly, ataxia, and behavioural disabilities. METHODS: The microdeletions were identified by array CGH using oligonucleotide and bacterial artificial chromosome (BAC) arrays, and further confirmed by fluorescence in situ hybridisation (FISH) and semi-quantitative polymerase chain reaction (PCR). RESULTS: The boundaries and sizes of the deletions in the two patients were different but an overlapping region of about 250 kb was defined, which mapped to 2q23.1 and included two genes: MBD5 and EPC2. The SIP1 gene associated with the Mowat-Wilson syndrome was not included in the deleted genomic region. DISCUSSION: Haploinsufficiency of one of the deleted genes (MBD5 or EPC2) could be responsible for the common clinical features observed in the 2q23.1 microdeletion syndrome, and this hypothesis needs further investigation. Twit Text FOAVip 2q23 1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features ????J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=18812405 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=18812405 #FOAvip English Wikipedia <ref>{{Cite pmid|18812405}}</ref> 2q23 1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? #MMPMID18812405 Jaillard S; Dubourg C; Gerard-Blanluet M; Delahaye A; Pasquier L; Dupont C; Henry C; Tabet AC; Lucas J; Aboura A; David V; Benzacken B; Odent S; Pipiras E J Med Genet 2009[Dec]; 46 (12): 847-55 PMID18812405show ga BACKGROUND: Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With this genotype-first approach, the 2q22.3q23.3 deletion was recently described as a novel microdeletion syndrome. The authors report two unrelated patients with a de novo interstitial deletion mapping in this genomic region and presenting similar "pseudo-Angelman" phenotypes, including severe psychomotor retardation, speech impairment, epilepsy, microcephaly, ataxia, and behavioural disabilities. METHODS: The microdeletions were identified by array CGH using oligonucleotide and bacterial artificial chromosome (BAC) arrays, and further confirmed by fluorescence in situ hybridisation (FISH) and semi-quantitative polymerase chain reaction (PCR). RESULTS: The boundaries and sizes of the deletions in the two patients were different but an overlapping region of about 250 kb was defined, which mapped to 2q23.1 and included two genes: MBD5 and EPC2. The SIP1 gene associated with the Mowat-Wilson syndrome was not included in the deleted genomic region. DISCUSSION: Haploinsufficiency of one of the deleted genes (MBD5 or EPC2) could be responsible for the common clinical features observed in the 2q23.1 microdeletion syndrome, and this hypothesis needs further investigation. |*Chromosome Deletion[MESH] |*Chromosomes, Human, Pair 2[MESH] |Abnormalities, Multiple/*genetics/*pathology[MESH] |Child[MESH] |Comparative Genomic Hybridization[MESH] |DNA/chemistry/genetics[MESH] |Humans[MESH] |In Situ Hybridization, Fluorescence[MESH] |Male[MESH] |Phenotype[MESH]2q23 1 microdeletion identified by array comparative genomic hybridisa(epmc).pdf DeepDyve Pubget Overpricing