Literature DB >> 29437884

Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder.

Alisha S Davlin1, Catherine M Clarkin1, Jennifer M Kalish2.   

Abstract

Entities:  

Mesh：

Year:  2018        PMID： 29437884      PMCID： PMC5847091          DOI： 10.1542/peds.2017-0475

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


× No keyword cloud information.
  6 in total

1.  Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Authors:  Alessandro Mussa; Cristina Molinatto; Flavia Cerrato; Orazio Palumbo; Massimo Carella; Giuseppina Baldassarre; Diana Carli; Clementina Peris; Andrea Riccio; Giovanni Battista Ferrero
Journal:  Pediatrics       Date:  2017-06-20       Impact factor: 7.124

Review 2.  Beckwith-Wiedemann syndrome.

Authors:  Rosanna Weksberg; Cheryl Shuman; Adam C Smith
Journal:  Am J Med Genet C Semin Med Genet       Date:  2005-08-15       Impact factor: 3.908

3.  Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Authors:  Jair Tenorio; Valeria Romanelli; Alex Martin-Trujillo; García-Moya Fernández; Mabel Segovia; Claudia Perandones; Luis A Pérez Jurado; Manel Esteller; Mario Fraga; Pedro Arias; Gema Gordo; Irene Dapía; Rocío Mena; María Palomares; Guiomar Pérez de Nanclares; Julián Nevado; Sixto García-Miñaur; Fernando Santos-Simarro; Víctor Martinez-Glez; Elena Vallespín; David Monk; Pablo Lapunzina
Journal:  Am J Med Genet A       Date:  2016-08-02       Impact factor: 2.802

4.  How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interaction.

Authors:  Karolina Budych; Thomas M Helms; Carsten Schultz
Journal:  Health Policy       Date:  2012-03-29       Impact factor: 2.980

Review 5.  Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

Authors:  Alessandro Mussa; Stefania Di Candia; Silvia Russo; Serena Catania; Maurizio De Pellegrin; Luisa Di Luzio; Mario Ferrari; Chiara Tortora; Maria Costanza Meazzini; Roberto Brusati; Donatella Milani; Giuseppe Zampino; Rosario Montirosso; Andrea Riccio; Angelo Selicorni; Guido Cocchi; Giovanni Battista Ferrero
Journal:  Eur J Med Genet       Date:  2015-11-22       Impact factor: 2.708

6.  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
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.