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Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

dc.contributor.authorIlyana, H.
dc.contributor.authorBaumer, A.
dc.contributor.authorChrzanowska, K. H.
dc.contributor.authorLurie, I. W.
dc.contributor.authorSchinzel, A.
dc.contributor.authorKayserili, H.
dc.contributor.authorBartholdi, D.
dc.contributor.authorKrajewska-Walasek, M.
dc.contributor.authorOunap, K.
dc.contributor.authorGaspar, H.
dc.date.accessioned2021-03-05T21:47:01Z
dc.date.available2021-03-05T21:47:01Z
dc.date.issued2009
dc.identifier.citationBartholdi D., Krajewska-Walasek M., Ounap K., Gaspar H., Chrzanowska K. H. , Ilyana H., Kayserili H., Lurie I. W. , Schinzel A., Baumer A., "Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes", JOURNAL OF MEDICAL GENETICS, cilt.46, ss.192-197, 2009
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_da8ee64c-a83d-4a64-bd26-50788984847a
dc.identifier.urihttp://hdl.handle.net/20.500.12627/144084
dc.identifier.urihttps://doi.org/10.1136/jmg.2008.061820
dc.description.abstractBackground: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterised by severe intrauterine and postnatal growth retardation. Loss of DNA methylation at the telomeric imprinting control region 1 (ICR1) on 11p15 is an important cause of SRS.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectYaşam Bilimleri
dc.titleEpigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume46
dc.identifier.issue3
dc.identifier.startpage192
dc.identifier.endpage197
dc.contributor.firstauthorID191852


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