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The utility of alpha‐fetoprotein screening in Beckwith–Wiedemann syndrome
American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.581-584
Duffy, Kelly A.
Deardorff, Matthew A.
Kalish, Jennifer M.
2017
Details
Autor(en) / Beteiligte
Duffy, Kelly A.
Deardorff, Matthew A.
Kalish, Jennifer M.
Titel
The utility of alpha‐fetoprotein screening in Beckwith–Wiedemann syndrome
Ist Teil von
American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.581-584
Ort / Verlag
United States: Wiley Subscription Services, Inc
Erscheinungsjahr
2017
Link zum Volltext
Quelle
Wiley Online Library - AutoHoldings Journals
Beschreibungen/Notizen
Beckwith–Wiedemann syndrome (BWS) is one of the most common cancer predisposition disorders. As a result, BWS patients receive tumor screening as part of their clinical management. Until recently, this screening has been employed uniformly across all genetic and epigenetic causes of BWS, including the utilization of ultrasonography to detect abdominal tumors and alpha‐fetoprotein (AFP) to detect hepatoblastoma. The advancements in our understanding of the genetics and epigenetics leading to BWS has evolved over time, and has led to the development of genotype/phenotype correlations. As tumor risk appears to correlate with genetic and epigenetic causes of BWS, several groups have proposed alterations to tumor screening protocols based on the etiology of BWS, with the elimination of AFP as a screening measure and the elimination of all screening measures in BWS patients with loss of methylation at the KCNQ1OT1:TSS‐DMR 2 (IC2). There are many challenges to this suggestion, as IC2 patients may have additional factors that contribute to risk of hepatoblastoma including fetal growth patterns, relationship with assisted reproductive technologies, and the regulation of the IC2 locus. © 2017 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.38068
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5928504
Format
–
Schlagworte
alpha-Fetoproteins
,
alpha‐fetoprotein
,
Beckwith-Wiedemann Syndrome - blood
,
Beckwith-Wiedemann Syndrome - complications
,
Beckwith-Wiedemann Syndrome - genetics
,
Beckwith–Wiedemann syndrome
,
Biomarkers, Tumor
,
Cancer
,
DNA Methylation
,
Early Detection of Cancer
,
Epigenetics
,
Etiology
,
Fetuses
,
Genotypes
,
Growth patterns
,
hepatoblastoma
,
Hepatoblastoma - diagnosis
,
Hepatoblastoma - etiology
,
Humans
,
KCNQ1OT1 protein
,
Liver Neoplasms - diagnosis
,
Liver Neoplasms - etiology
,
Mass Screening
,
Phenotypes
,
Potassium channels (voltage-gated)
,
Potassium Channels, Voltage-Gated - genetics
,
Reproductive technology
,
tumor screening
,
Tumors
,
Ultrasonography
,
Ultrasound
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