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http://scihub22266oqcxt.onion/ 1347967/?report=reader!1682625!1347967     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 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 1992 ; 50 (4): 690-9 Nephropedia Template TP {{tp|p=1347967|t=1992. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy |pdf=|usr=}}{{1347967}} gab.com Text Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=1347967 #FOAvip Rod monochromacy (complete congenital achromatopsia) is inherited as an autosomal recessive trait of unknown genetic location. The disorder is characterized by total absence of color discrimination because retinal cone photoreceptors do not develop; systemic features do not occur. A 20-year-old white female with rod monochromacy presented with short stature (less than 5th percentile), mild developmental delay, premature puberty, small hands and feet (length less than 5th percentile), minimal dysmorphism, and a reproductive history of three consecutive first-trimester miscarriages. Cytogenetic analysis showed 45,XX,rob(14;14) in all 30 cells examined. Southern analysis of DNA from the patient and her phenotypically normal mother and two brothers (her father is deceased) ascertained the parental origin of the 14;14 Robertsonian translocation. Analysis of RFLPs associated with nine VNTR probes and two dinucleotide repeat polymorphisms from chromosome 14 demonstrated that the patient had inherited two copies of a single allele, each of which was maternally derived. A fully informative RFLP analysis of three probes from chromosome 14 enabled reconstruction of the paternal haplotype and showed the lack of any paternal contribution to the subject. These data are consistent with maternal isodisomy for all portions of chromosome 14 tested by these markers. This finding suggests that rod monochromacy maps to chromosome 14, and it emphasizes the importance of uniparental isodisomy to provide a putative chromosomal assignment of a gene for a rare autosomal recessive disorder. Twit Text FOAVip Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=1347967 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=1347967 #FOAvip English Wikipedia <ref>{{Cite pmid|1347967}}</ref> Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy #MMPMID1347967 Pentao L; Lewis RA; Ledbetter DH; Patel PI; Lupski JR Am J Hum Genet 1992[Apr]; 50 (4): 690-9 PMID1347967show ga Rod monochromacy (complete congenital achromatopsia) is inherited as an autosomal recessive trait of unknown genetic location. The disorder is characterized by total absence of color discrimination because retinal cone photoreceptors do not develop; systemic features do not occur. A 20-year-old white female with rod monochromacy presented with short stature (less than 5th percentile), mild developmental delay, premature puberty, small hands and feet (length less than 5th percentile), minimal dysmorphism, and a reproductive history of three consecutive first-trimester miscarriages. Cytogenetic analysis showed 45,XX,rob(14;14) in all 30 cells examined. Southern analysis of DNA from the patient and her phenotypically normal mother and two brothers (her father is deceased) ascertained the parental origin of the 14;14 Robertsonian translocation. Analysis of RFLPs associated with nine VNTR probes and two dinucleotide repeat polymorphisms from chromosome 14 demonstrated that the patient had inherited two copies of a single allele, each of which was maternally derived. A fully informative RFLP analysis of three probes from chromosome 14 enabled reconstruction of the paternal haplotype and showed the lack of any paternal contribution to the subject. These data are consistent with maternal isodisomy for all portions of chromosome 14 tested by these markers. This finding suggests that rod monochromacy maps to chromosome 14, and it emphasizes the importance of uniparental isodisomy to provide a putative chromosomal assignment of a gene for a rare autosomal recessive disorder. |*Chromosome Mapping[MESH] |*Chromosomes, Human, Pair 14[MESH] |*Homozygote[MESH] |Female[MESH] |Genetic Carrier Screening[MESH] |Humans[MESH] |Infant, Newborn[MESH] |Karyotyping[MESH] |Photoreceptor Cells/*abnormalities[MESH] |Polymorphism, Genetic[MESH] |Polymorphism, Restriction Fragment Length[MESH] |Retinal Diseases/genetics[MESH]Maternal uniparental isodisomy of chromosome 14: association with auto(epmc).pdf DeepDyve Pubget Overpricing