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10.3233/PGE-13063 http://scihub22266oqcxt.onion/10.3233/PGE-13063 C5020974!5020974!27625853     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Pediatr+Genet 2013 ; 2 (3): 147-55 Nephropedia Template TP {{tp|p=27625853|t=2013. Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients |pdf=|usr=}}{{27625853}} gab.com Text Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients JO: J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27625853 #FOAvip We report on the cytogenetic and molecular investigations of constitutional de-novo ring chromosome 13s in three unrelated patients for better understanding and delineation of the phenotypic variability characterizing this genomic rearrangement. The patient?s karyotypes were as follows: 46,XY,r(13)(p11q34) dn for patients 1 and 2 and 46,XY,r(13)(p11q14) dn for patient 3, as a result of the deletion in the telomeric regions of chromosome 13. The patients were, therefore, monosomic for the segment 13q34 ? 13qter; in addition, for patient 3, the deletion was larger, encompassing the segment 13q14 ? 13qter. Fluorescence in situ hybridization confirmed these rearrangement and array CGH technique showed the loss of at least 2.9 Mb on the short arm and 4.7 Mb on the long arm of the chromosome 13 in patient 2. Ring chromosome 13 (r(13)) is associated with several phenotypic features like intellectual disability, marked short stature, brain and heart defects, microcephaly and genital malformations in males, including undescended testes and hypospadias. However, the hearing loss and speech delay that were found in our three patients have rarely been reported with ring chromosome 13. Although little is known about its etiology, there is interesting evidence for a genetic cause for the ring chromosome 13. We thus performed a genotype-phenotype correlation analysis to ascertain the contribution of ring chromosome 13 to the clinical features of our three cases. Twit Text FOAVip Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients ????J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27625853 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27625853 #FOAvip English Wikipedia <ref>{{Cite pmid|27625853}}</ref> Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients #MMPMID27625853 Abdallah-Bouhjar IB; Mougou-Zerelli S; Hannachi H; Gmidène A; Labalme A; Soyah N; Sanlaville D; Saad A; Elghezal H J Pediatr Genet 2013[Sep]; 2 (3): 147-55 PMID27625853show ga We report on the cytogenetic and molecular investigations of constitutional de-novo ring chromosome 13s in three unrelated patients for better understanding and delineation of the phenotypic variability characterizing this genomic rearrangement. The patient?s karyotypes were as follows: 46,XY,r(13)(p11q34) dn for patients 1 and 2 and 46,XY,r(13)(p11q14) dn for patient 3, as a result of the deletion in the telomeric regions of chromosome 13. The patients were, therefore, monosomic for the segment 13q34 ? 13qter; in addition, for patient 3, the deletion was larger, encompassing the segment 13q14 ? 13qter. Fluorescence in situ hybridization confirmed these rearrangement and array CGH technique showed the loss of at least 2.9 Mb on the short arm and 4.7 Mb on the long arm of the chromosome 13 in patient 2. Ring chromosome 13 (r(13)) is associated with several phenotypic features like intellectual disability, marked short stature, brain and heart defects, microcephaly and genital malformations in males, including undescended testes and hypospadias. However, the hearing loss and speech delay that were found in our three patients have rarely been reported with ring chromosome 13. Although little is known about its etiology, there is interesting evidence for a genetic cause for the ring chromosome 13. We thus performed a genotype-phenotype correlation analysis to ascertain the contribution of ring chromosome 13 to the clinical features of our three cases. äMolecular cytogenetic and phenotypic characterization of ring chromoso(epmc).pdf DeepDyve Pubget Overpricing