Literature DB >> 29449718

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

Frédéric Brioude1, Raoul Hennekam2, Jet Bliek3, Carole Coze4, Thomas Eggermann5, Giovanni B Ferrero6, Christian Kratz7, Yves Le Bouc8, Saskia M Maas3, Deborah J G Mackay9, Eamonn R Maher10, Alessandro Mussa6,11, Irene Netchine8.   

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Year:  2018        PMID： 29449718      PMCID： PMC5891506          DOI： 10.1038/s41431-017-0074-2

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


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  7 in total

1.  Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

Authors:  Alessandro Mussa; Licia Peruzzi; Nicoletta Chiesa; Agostina De Crescenzo; Silvia Russo; Daniela Melis; Luigi Tarani; Giuseppina Baldassarre; Lidia Larizza; Andrea Riccio; Margherita Silengo; Giovanni Battista Ferrero
Journal:  Pediatr Nephrol       Date:  2011-10-21       Impact factor: 3.714

2.  Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.

Authors:  Saskia M Maas; Fleur Vansenne; Daniel J M Kadouch; Abdulla Ibrahim; Jet Bliek; Saskia Hopman; Marcel M Mannens; Johannes H M Merks; Eamonn R Maher; Raoul C Hennekam
Journal:  Am J Med Genet A       Date:  2016-07-15       Impact factor: 2.802

3.  Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.

Authors:  Jack Brzezinski; Cheryl Shuman; Sanaa Choufani; Peter Ray; Dmitiri J Stavropoulos; Raveen Basran; Leslie Steele; Nicole Parkinson; Ronald Grant; Paul Thorner; Armando Lorenzo; Rosanna Weksberg
Journal:  Eur J Hum Genet       Date:  2017-07-12       Impact factor: 4.246

4.  Nephrogenic rests in Wilms tumors treated with preoperative chemotherapy: The UK SIOP Wilms Tumor 2001 Trial experience.

Authors:  Gordan M Vujanić; John R Apps; Veronica Moroz; Federica Ceroni; Richard D Williams; Neil J Sebire; Kathy Pritchard-Jones
Journal:  Pediatr Blood Cancer       Date:  2017-04-06       Impact factor: 3.167

5.  SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

Authors:  Boris Keren; Sandra Chantot-Bastaraud; Frédéric Brioude; Corinne Mach; Eric Fonteneau; Salah Azzi; Christel Depienne; Alexis Brice; Irène Netchine; Yves Le Bouc; Jean-Pierre Siffroi; Sylvie Rossignol
Journal:  Eur J Med Genet       Date:  2013-07-24       Impact factor: 2.708

Review 6.  Nephrogenic rests, nephroblastomatosis, and associated lesions of the kidney.

Authors:  G J Lonergan; M I Martínez-León; G A Agrons; H Montemarano; E S Suarez
Journal:  Radiographics       Date:  1998 Jul-Aug       Impact factor: 5.333

Review 7.  Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Authors:  Frédéric Brioude; Jennifer M Kalish; Alessandro Mussa; Alison C Foster; Jet Bliek; Giovanni Battista Ferrero; Susanne E Boonen; Trevor Cole; Robert Baker; Monica Bertoletti; Guido Cocchi; Carole Coze; Maurizio De Pellegrin; Khalid Hussain; Abdulla Ibrahim; Mark D Kilby; Malgorzata Krajewska-Walasek; Christian P Kratz; Edmund J Ladusans; Pablo Lapunzina; Yves Le Bouc; Saskia M Maas; Fiona Macdonald; Katrin Õunap; Licia Peruzzi; Sylvie Rossignol; Silvia Russo; Caroleen Shipster; Agata Skórka; Katrina Tatton-Brown; Jair Tenorio; Chiara Tortora; Karen Grønskov; Irène Netchine; Raoul C Hennekam; Dirk Prawitt; Zeynep Tümer; Thomas Eggermann; Deborah J G Mackay; Andrea Riccio; Eamonn R Maher
Journal:  Nat Rev Endocrinol       Date:  2018-01-29       Impact factor: 43.330
  7 in total
  8 in total

Review 1.  Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.

Authors:  Jean-Louis Guéant; Youssef Siblini; Céline Chéry; Guillaume Schmitt; Rosa-Maria Guéant-Rodriguez; David Coelho; David Watkins; David S Rosenblatt; Abderrahim Oussalah
Journal:  Hum Genet       Date:  2022-02-21       Impact factor: 5.881

2.  The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum.

Authors:  Alessandro Mussa; Kelly A Duffy; Diana Carli; Jessica R Griff; Riccardo Fagiano; Jonida Kupa; Garrett M Brodeur; Giovanni Battista Ferrero; Jennifer M Kalish
Journal:  J Cancer Res Clin Oncol       Date:  2019-10-04       Impact factor: 4.553

Review 3.  Overgrowth syndromes - clinical and molecular aspects and tumour risk.

Authors:  Frédéric Brioude; Annick Toutain; Eloise Giabicani; Edouard Cottereau; Valérie Cormier-Daire; Irene Netchine
Journal:  Nat Rev Endocrinol       Date:  2019-05       Impact factor: 43.330

Review 4.  Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Authors:  Suhee Chang; Marisa S Bartolomei
Journal:  Dis Model Mech       Date:  2020-05-26       Impact factor: 5.758

5.  Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population.

Authors:  Kelly A Duffy; Kelly D Getz; Evan R Hathaway; Mallory E Byrne; Suzanne P MacFarland; Jennifer M Kalish
Journal:  Genes (Basel)       Date:  2021-11-21       Impact factor: 4.096

Review 6.  Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Authors:  Hela Sassi; Yasmina Elaribi; Houweyda Jilani; Imen Rejeb; Syrine Hizem; Molka Sebai; Nadia Kasdallah; Habib Bouthour; Samia Hannachi; Jasmin Beygo; Ali Saad; Karin Buiting; Dorra H'mida Ben-Brahim; Lamia BenJemaa
Journal:  Mol Genet Genomic Med       Date:  2021-09-12       Impact factor: 2.183

Review 7.  Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice.

Authors:  Thomas Eggermann; Eamonn R Maher; Christian P Kratz; Dirk Prawitt
Journal:  Cancers (Basel)       Date:  2022-06-23       Impact factor: 6.575

8.  Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.

Authors:  Leila Cabral de Almeida Cardoso; Alejandro Parra; Cristina Ríos Gil; Pedro Arias; Natalia Gallego; Valeria Romanelli; Piranit Nik Kantaputra; Leonardo Lima; Juan Clinton Llerena Júnior; Claudia Arberas; Encarna Guillén-Navarro; Julián Nevado; Jair Tenorio-Castano; Pablo Lapunzina
Journal:  Cancers (Basel)       Date:  2022-08-05       Impact factor: 6.575
  8 in total

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