[HTML][HTML] Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
… ” yielded articles of interest that were selected on the basis of the abstracts, with particular
… of the molecular mechanisms. Only articles mentioning the molecular mechanisms were …
… of the molecular mechanisms. Only articles mentioning the molecular mechanisms were …
[HTML][HTML] Beckwith-wiedemann syndrome
C Shuman, JB Beckwith, R Weksberg - 2016 - europepmc.org
… In many European countries, proactive tumor screening protocols are typically undertaken …
and are based on molecular mechanism. For most BWS molecular subtypes, tumor screening …
and are based on molecular mechanism. For most BWS molecular subtypes, tumor screening …
[HTML][HTML] Molecular basis of Beckwith–Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice
… The molecular diagnosis of BWSp can be challenging for several reasons, including the
range of causative molecular mechanisms which are frequently mosaic. The molecular basis of …
range of causative molecular mechanisms which are frequently mosaic. The molecular basis of …
[HTML][HTML] Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
L Pignata, F Cecere, F Acquaviva… - Frontiers in Cell and …, 2023 - frontiersin.org
… Here, we describe a further case of co-occurrence of BWS and PHP1B, in which the molecular
mechanisms underlying the two ImpDis appear to be independent and different from the …
mechanisms underlying the two ImpDis appear to be independent and different from the …
[HTML][HTML] Diagnosis and management of Beckwith-Wiedemann syndrome
KH Wang, J Kupa, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
… Molecular mechanisms that can lead to Beckwith-Wiedemann syndrome. (A) In normal cells,
the paternal allele is methylated at imprinting control region 1 (IC1) and the maternal allele …
the paternal allele is methylated at imprinting control region 1 (IC1) and the maternal allele …
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …
… ” or “EMG syndrome” yielded articles of interest that were selected on the basis of the … of
the molecular mechanisms. Only articles mentioning the molecular mechanisms were retained. …
the molecular mechanisms. Only articles mentioning the molecular mechanisms were retained. …
Silver-Russell syndrome and Beckwith-Wiedemann syndrome: opposite phenotypes with heterogeneous molecular etiology
K Ounap - Molecular Syndromology, 2016 - karger.com
… et al: Hypomethylation at multiple maternally methylated imprinted regions including
PLAGL1 and GNAS loci in BeckwithWiedemann syndrome. Eur J Hum Genet 17: 611–619 (2009c). …
PLAGL1 and GNAS loci in BeckwithWiedemann syndrome. Eur J Hum Genet 17: 611–619 (2009c). …
[HTML][HTML] Clinical and molecular diagnosis of Beckwith-Wiedemann syndrome with single-or multi-locus imprinting disturbance
L Fontana, S Tabano, S Maitz, P Colapietro… - … journal of molecular …, 2021 - mdpi.com
… In this review, we provide an overview on the clinical and molecular diagnosis of single-
and multi-locus BWS in pre- and post-natal settings, and a comprehensive analysis of the …
and multi-locus BWS in pre- and post-natal settings, and a comprehensive analysis of the …
[HTML][HTML] Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
T Eggermann, J Brück, C Knopp, G Fekete… - Journal of Molecular …, 2020 - Springer
… The detection rates for the typical molecular defects of Beckwith-Wiedemann syndrome
or Silver-Russell syndrome (BWS, SRS) are lower in routine cohorts than in clinically well-…
or Silver-Russell syndrome (BWS, SRS) are lower in routine cohorts than in clinically well-…
Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques
J Tenorio, V Romanelli, A Martin‐Trujillo… - American journal of …, 2016 - Wiley Online Library
… syndrome characterized by an excessive prenatal and postnatal growth, macrosomia,
macroglossia, and hemihyperplasia. The molecular basis of this syndrome … the frequency of multi-…
macroglossia, and hemihyperplasia. The molecular basis of this syndrome … the frequency of multi-…
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