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Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1990-1993
Poole, Rebecca L.
Baple, Emma
Crolla, John A.
Temple, I. Karen
Mackay, Deborah J.G.
2010
Details
Autor(en) / Beteiligte
Poole, Rebecca L.
Baple, Emma
Crolla, John A.
Temple, I. Karen
Mackay, Deborah J.G.
Titel
Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
Ist Teil von
American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1990-1993
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2010
Link zum Volltext
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
This study was an investigation of 90 patients referred to the Wessex Regional Genetics Laboratory for and negative by molecular cytogenetic analysis using array comparative genomic hybridization. This patient cohort represents typical referrals to a regional genetic centre. Methylation analysis was performed at 13 imprinted loci [PLAGL1, IGF2R, MEST, GRB10, H19, IGF2 DMR2 (IGF2P0), KCNQ1OT1 (KvDMR), MEG3, SNRPN, PEG3, GNAS (GNAS exon 1a and NESP55) and GNASAS]. In total 6/90 (6.67%) were shown to have a methylation defect, 2 of which were associated with known imprinting disorders: 1 patient had isolated hypomethylation at IGF2P0, an atypical epigenotype associated with Russell–Silver syndrome, and 1 showed hypomethylation at KvDMR consistent with a diagnosis of Beckwith–Wiedemann syndrome. A further 4 patients, 3 exhibiting complete hypermethylation, and 1 partial hypomethylation, had aberrations at IGF2R, the clinical significance of which remains unclear. This study demonstrates the potential utility of epigenetic investigation in routine diagnostic testing. © 2010 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825, 1552-4833
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.33530
Titel-ID: cdi_proquest_miscellaneous_879478416
Format
–
Schlagworte
Adolescent
,
Adult
,
array comparative genomic hybridization
,
Beckwith-Wiedemann syndrome
,
Beckwith-Wiedemann Syndrome - genetics
,
Biological and medical sciences
,
Biomarkers - metabolism
,
Child, Preschool
,
Classical genetics, quantitative genetics, hybrids
,
Cohort Studies
,
Comparative Genomic Hybridization
,
Cytogenetic Analysis
,
DNA Methylation
,
Female
,
Fundamental and applied biological sciences. Psychology
,
Genetics of eukaryotes. Biological and molecular evolution
,
Genomic Imprinting
,
Human
,
Humans
,
imprinting
,
Male
,
Medical genetics
,
Medical sciences
,
Oligonucleotide Array Sequence Analysis
,
Russell-Silver syndrome
,
Silver-Russell Syndrome - genetics
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