Literature DB >> 23820480

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Thomas Eggermann1, Elizabeth Algar2, Pablo Lapunzina3, Deborah Mackay4, Eamonn R Maher5, Marcel Mannens6, Irène Netchine7, Dirk Prawitt8, Andrea Riccio9, I Karen Temple10, Rosanna Weksberg11.   

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Year:  2013        PMID： 23820480      PMCID： PMC3925261          DOI： 10.1038/ejhg.2013.132

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  20 in total

1.  In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.

Authors:  Christine Gicquel; Véronique Gaston; Jacqueline Mandelbaum; Jean-Pierre Siffroi; Antoine Flahault; Yves Le Bouc
Journal:  Am J Hum Genet       Date:  2003-05       Impact factor: 11.025

2.  Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.

Authors:  Wendy N Cooper; Anita Luharia; Gail A Evans; Hussain Raza; Antonita C Haire; Richard Grundy; Sarah C Bowdin; Andrea Riccio; Gianfranco Sebastio; Jet Bliek; Paul N Schofield; Wolf Reik; Fiona Macdonald; Eamonn R Maher
Journal:  Eur J Hum Genet       Date:  2005-09       Impact factor: 4.246

3.  Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

Authors:  W W Lam; I Hatada; S Ohishi; T Mukai; J A Joyce; T R Cole; D Donnai; W Reik; P N Schofield; E R Maher
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

Review 4.  Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice.

Authors:  R H Scott; L Walker; Ø E Olsen; G Levitt; I Kenney; E Maher; C M Owens; K Pritchard-Jones; A Craft; N Rahman
Journal:  Arch Dis Child       Date:  2006-07-20       Impact factor: 3.791

5.  Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS).

Authors:  Jet Bliek; Christine Gicquel; Saskia Maas; Véronique Gaston; Yves Le Bouc; Marcel Mannens
Journal:  J Pediatr       Date:  2004-12       Impact factor: 4.406

6.  Analysis of CDKN1C in Beckwith Wiedemann syndrome.

Authors:  E Algar; S Brickell; G Deeble; D Amor; P Smith
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

7.  Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Authors:  Derek Lim; Sarah C Bowdin; Louise Tee; Gail A Kirby; Edward Blair; Alan Fryer; Wayne Lam; Christine Oley; Trevor Cole; Louise A Brueton; Wolf Reik; Fiona Macdonald; Eamonn R Maher
Journal:  Hum Reprod       Date:  2008-12-10       Impact factor: 6.918

8.  Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.

Authors:  Marielle Alders; Jet Bliek; Karin vd Lip; Ruud vd Bogaard; Marcel Mannens
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

9.  The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.

Authors:  Meredith Wilson; Gregory Peters; Bruce Bennetts; George McGillivray; Zan He Wu; Christopher Poon; Elizabeth Algar
Journal:  Am J Med Genet A       Date:  2008-01-15       Impact factor: 2.802

10.  Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.

Authors:  Magdalena Gogiel; Matthias Begemann; Sabrina Spengler; Lukas Soellner; Ulf Göretzlehner; Thomas Eggermann; Gertrud Strobl-Wildemann
Journal:  Eur J Hum Genet       Date:  2012-11-28       Impact factor: 4.246
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  19 in total

1.  The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome.

Authors:  Feifei Sun; Ken Higashimoto; Atsuko Awaji; Kenji Ohishi; Naoto Nishizaki; Yuka Tanoue; Saori Aoki; Hidetaka Watanabe; Hitomi Yatsuki; Hidenobu Soejima
Journal:  J Hum Genet       Date:  2019-06-24       Impact factor: 3.172

2.  Characterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction.

Authors:  Zhiyuan Chen; Darren E Hagen; Christine G Elsik; Tieming Ji; Collin James Morris; Laura Emily Moon; Rocío Melissa Rivera
Journal:  Proc Natl Acad Sci U S A       Date:  2015-03-30       Impact factor: 11.205

3.  Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.

Authors:  Kelly A Duffy; Katheryn L Grand; Kristin Zelley; Jennifer M Kalish
Journal:  J Genet Couns       Date:  2017-12-04       Impact factor: 2.537

4.  (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Authors:  Alessandro Mussa; Silvia Russo; Agostina De Crescenzo; Andrea Freschi; Luciano Calzari; Silvia Maitz; Marina Macchiaiolo; Cristina Molinatto; Giuseppina Baldassarre; Milena Mariani; Luigi Tarani; Maria Francesca Bedeschi; Donatella Milani; Daniela Melis; Andrea Bartuli; Maria Vittoria Cubellis; Angelo Selicorni; Margherita Cirillo Silengo; Lidia Larizza; Andrea Riccio; Giovanni Battista Ferrero
Journal:  Eur J Hum Genet       Date:  2015-04-22       Impact factor: 4.246

5.  Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.

Authors:  Jasmin Beygo; Joachim Bürger; Tim M Strom; Sabine Kaya; Karin Buiting
Journal:  Eur J Hum Genet       Date:  2019-02-18       Impact factor: 4.246

6.  Rare diseases in clinical endocrinology: a taxonomic classification system.

Authors:  G Marcucci; L Cianferotti; P Beck-Peccoz; M Capezzone; F Cetani; A Colao; M V Davì; E degli Uberti; S Del Prato; R Elisei; A Faggiano; D Ferone; C Foresta; L Fugazzola; E Ghigo; G Giacchetti; F Giorgino; A Lenzi; P Malandrino; M Mannelli; C Marcocci; L Masi; F Pacini; G Opocher; A Radicioni; M Tonacchera; R Vigneri; M C Zatelli; M L Brandi
Journal:  J Endocrinol Invest       Date:  2014-11-07       Impact factor: 4.256

7.  A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.

Authors:  Jasmin Beygo; Ivana Joksic; Tim M Strom; Hermann-Josef Lüdecke; Julia Kolarova; Reiner Siebert; Zeljko Mikovic; Bernhard Horsthemke; Karin Buiting
Journal:  Eur J Hum Genet       Date:  2016-02-03       Impact factor: 4.246

Review 8.  Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.

Authors:  Thomas Eggermann; Irène Netchine; I Karen Temple; Zeynep Tümer; David Monk; Deborah Mackay; Karin Grønskov; Andrea Riccio; Agnès Linglart; Eamonn R Maher
Journal:  Clin Epigenetics       Date:  2015-03-14       Impact factor: 6.551

9.  Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.

Authors:  Abdulla Ibrahim; Gail Kirby; Carol Hardy; Renuka P Dias; Louise Tee; Derek Lim; Jonathan Berg; Fiona MacDonald; Peter Nightingale; Eamonn R Maher
Journal:  Clin Epigenetics       Date:  2014-06-04       Impact factor: 6.551

10.  Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.

Authors:  Samuel W Baker; Kelly A Duffy; Jennifer Richards-Yutz; Matthew A Deardorff; Jennifer M Kalish; Arupa Ganguly
Journal:  J Med Genet       Date:  2020-05-19       Impact factor: 6.318
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