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10.1086/316937 http://scihub22266oqcxt.onion/10.1086/316937 11112662/?report=reader!1234921!11112662     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=11112662&cmd=llinks): Failed to open stream: HTTP request failed! 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A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region |pdf=|usr=}}{{11112662}} gab.com Text A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=11112662 #FOAvip Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in approximately 10% of patients with Silver-Russell syndrome (SRS). It has been suggested that at least one imprinted gene that regulates growth and development resides on human chromosome 7. To date, three imprinted genes-PEG1/MEST, gamma2-COP, and GRB10-have been identified on chromosome 7, but their role in the etiology of SRS remains uncertain. In a systematic screening with microsatellite markers, for matUPD7 cases among patients with SRS, we identified a patient who had a small segment of matUPD7 and biparental inheritance of the remainder of chromosome 7. Such a pattern may be explained by somatic recombination in the zygote. The matUPD7 segment at 7q31-qter extends for 35 Mb and includes the imprinted gene cluster of PEG1/MEST and gamma2-COP at 7q32. GRB10 at 7p11.2-p12 is located within a region of biparental inheritance. Although partial UPD has previously been reported for chromosomes 6, 11, 14, and 15, this is the first report of a patient with SRS who has segmental matUPD7. Our findings delimit a candidate imprinted region sufficient to cause SRS. Twit Text FOAVip A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=11112662 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=11112662 #FOAvip English Wikipedia <ref>{{Cite pmid|11112662}}</ref> A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region #MMPMID11112662 Hannula K; Lipsanen-Nyman M; Kontiokari T; Kere J Am J Hum Genet 2001[Jan]; 68 (1): 247-53 PMID11112662show ga Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in approximately 10% of patients with Silver-Russell syndrome (SRS). It has been suggested that at least one imprinted gene that regulates growth and development resides on human chromosome 7. To date, three imprinted genes-PEG1/MEST, gamma2-COP, and GRB10-have been identified on chromosome 7, but their role in the etiology of SRS remains uncertain. In a systematic screening with microsatellite markers, for matUPD7 cases among patients with SRS, we identified a patient who had a small segment of matUPD7 and biparental inheritance of the remainder of chromosome 7. Such a pattern may be explained by somatic recombination in the zygote. The matUPD7 segment at 7q31-qter extends for 35 Mb and includes the imprinted gene cluster of PEG1/MEST and gamma2-COP at 7q32. GRB10 at 7p11.2-p12 is located within a region of biparental inheritance. Although partial UPD has previously been reported for chromosomes 6, 11, 14, and 15, this is the first report of a patient with SRS who has segmental matUPD7. Our findings delimit a candidate imprinted region sufficient to cause SRS. |*Aneuploidy[MESH] |Abnormalities, Multiple/*genetics/physiopathology[MESH] |Carrier Proteins/genetics[MESH] |Chromosome Mapping[MESH] |Chromosomes, Human, Pair 7/*genetics[MESH] |Coatomer Protein[MESH] |Crossing Over, Genetic/genetics[MESH] |Fathers[MESH] |Female[MESH] |Genomic Imprinting/*genetics[MESH] |Growth Disorders/*genetics/physiopathology[MESH] |Humans[MESH] |Infant[MESH] |Male[MESH] |Microsatellite Repeats/genetics[MESH] |Mothers[MESH] |Proteins/genetics[MESH]A narrow segment of maternal uniparental disomy of chromosome 7q31-qte(epmc).pdf DeepDyve Pubget Overpricing