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http://scihub22266oqcxt.onion/ 7913578/?report=reader!1918369!7913578     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 1994 ; 55 (2): 253-65 Nephropedia Template TP {{tp|p=7913578|t=1994. Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation |pdf=|usr=}}{{7913578}} gab.com Text Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=7913578 #FOAvip Uniparental isodisomy resulting from the simultaneous presence of isochromosomes of the p and q arms of a chromosome and absence of a normal homologue is an exceptionally rare event. We have observed a growth-retarded female infant in whom the normal chromosome 7 homologues were replaced by what appeared cytogenetically to be isochromosomes of 7p and 7q. Polymorphic microsatellite loci spanning the length of 7p and 7q were analyzed in the proband and her parents to ascertain the parental origin and extent of heterozygosity of the proband's rearranged chromosomes. These studies demonstrated that the 7p alleles of the proband were derived only from the father, the 7q alleles were derived only from the mother, and there was homozygosity for all chromosome 7 loci analyzed. The mechanisms leading to the formation of the proband's isochromosomes could reflect abnormalities of cell division occurring at meiosis, postfertilization mitosis, or both. We believe that the present case may result from incomplete mitotic interchange in the pericentromeric regions of chromosome 7 homologues, with resolution by sister-chromatid reunion in an early, if not first, zygotic division. Phenotypically, our proband resembled three previously reported cases of maternal isodisomy for chromosome 7, suggesting that lack of paternal genes from 7q may result in a phenotype of short stature and growth retardation. Twit Text FOAVip Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=7913578 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=7913578 #FOAvip English Wikipedia <ref>{{Cite pmid|7913578}}</ref> Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation #MMPMID7913578 Eggerding FA; Schonberg SA; Chehab FF; Norton ME; Cox VA; Epstein CJ Am J Hum Genet 1994[Aug]; 55 (2): 253-65 PMID7913578show ga Uniparental isodisomy resulting from the simultaneous presence of isochromosomes of the p and q arms of a chromosome and absence of a normal homologue is an exceptionally rare event. We have observed a growth-retarded female infant in whom the normal chromosome 7 homologues were replaced by what appeared cytogenetically to be isochromosomes of 7p and 7q. Polymorphic microsatellite loci spanning the length of 7p and 7q were analyzed in the proband and her parents to ascertain the parental origin and extent of heterozygosity of the proband's rearranged chromosomes. These studies demonstrated that the 7p alleles of the proband were derived only from the father, the 7q alleles were derived only from the mother, and there was homozygosity for all chromosome 7 loci analyzed. The mechanisms leading to the formation of the proband's isochromosomes could reflect abnormalities of cell division occurring at meiosis, postfertilization mitosis, or both. We believe that the present case may result from incomplete mitotic interchange in the pericentromeric regions of chromosome 7 homologues, with resolution by sister-chromatid reunion in an early, if not first, zygotic division. Phenotypically, our proband resembled three previously reported cases of maternal isodisomy for chromosome 7, suggesting that lack of paternal genes from 7q may result in a phenotype of short stature and growth retardation. |*Chromosome Aberrations[MESH] |*Chromosome Disorders[MESH] |*Chromosomes, Human, Pair 7[MESH] |Base Sequence[MESH] |Chromosome Banding[MESH] |DNA Primers[MESH] |DNA, Satellite/genetics[MESH] |Dwarfism/*genetics[MESH] |Fathers[MESH] |Female[MESH] |Haplotypes[MESH] |Homozygote[MESH] |Humans[MESH] |Infant, Newborn[MESH] |Mitosis[MESH] |Molecular Sequence Data[MESH] |Mothers[MESH]Uniparental isodisomy for paternal 7p and maternal 7q in a child with (epmc).pdf DeepDyve Pubget Overpricing