Literature DB >> 24736734

Clinical utility gene card for: Prader-Willi Syndrome.

Karin Buiting1, Suzanne B Cassidy2, Daniel J Driscoll3, Gabriele Gillessen-Kaesbach4, Deniz Kanber1, Maithé Tauber5, Eberhard Schwinger4, Bernhard Horsthemke1.   

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Year:  2014        PMID： 24736734      PMCID： PMC4135421          DOI： 10.1038/ejhg.2014.66

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


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  3 in total

Review 1.  Prader-Willi syndrome and Angelman syndrome.

Authors:  Karin Buiting
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-08-15       Impact factor: 3.908

2.  Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

Authors:  Simon C Ramsden; Jill Clayton-Smith; Rachael Birch; Karin Buiting
Journal:  BMC Med Genet       Date:  2010-05-11       Impact factor: 2.103

Review 3.  Prader-Willi syndrome.

Authors:  Suzanne B Cassidy; Stuart Schwartz; Jennifer L Miller; Daniel J Driscoll
Journal:  Genet Med       Date:  2011-09-26       Impact factor: 8.822
  3 in total
  8 in total

1.  Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study.

Authors:  Jennifer L Miller; Roy Tamura; Merlin G Butler; Virginia Kimonis; Carlos Sulsona; June-Anne Gold; Daniel J Driscoll
Journal:  Am J Med Genet A       Date:  2017-03-30       Impact factor: 2.802

Review 2.  The dilemma of diagnostic testing for Prader-Willi syndrome.

Authors:  Arabella Smith; Dorothy Hung
Journal:  Transl Pediatr       Date:  2017-01

Review 3.  Epigenetic therapy of Prader-Willi syndrome.

Authors:  Yuna Kim; Sung Eun Wang; Yong-Hui Jiang
Journal:  Transl Res       Date:  2019-03-05       Impact factor: 7.012

4.  Xq21.1q21.31 Duplication in Two Male Siblings.

Authors:  Charlotte Ann Sherlaw-Sturrock; Sarah Graham; Anita Morgan; Lisa Reali; Swati Naik
Journal:  Mol Syndromol       Date:  2021-11-01

Review 5.  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

6.  Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Authors:  Jasmin Beygo; Karin Buiting; Simon C Ramsden; Rachael Ellis; Jill Clayton-Smith; Deniz Kanber
Journal:  Eur J Hum Genet       Date:  2019-06-24       Impact factor: 4.246

Review 7.  Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network.

Authors:  Thomas Eggermann; Justin H Davies; Maithé Tauber; Erica van den Akker; Anita Hokken-Koelega; Gudmundur Johansson; Irène Netchine
Journal:  Genes (Basel)       Date:  2021-04-17       Impact factor: 4.096

Review 8.  DNA Methylation in the Diagnosis of Monogenic Diseases.

Authors:  Flavia Cerrato; Angela Sparago; Francesca Ariani; Fulvia Brugnoletti; Luciano Calzari; Fabio Coppedè; Alessandro De Luca; Cristina Gervasini; Emiliano Giardina; Fiorella Gurrieri; Cristiana Lo Nigro; Giuseppe Merla; Monica Miozzo; Silvia Russo; Eugenio Sangiorgi; Silvia M Sirchia; Gabriella Maria Squeo; Silvia Tabano; Elisabetta Tabolacci; Isabella Torrente; Maurizio Genuardi; Giovanni Neri; Andrea Riccio
Journal:  Genes (Basel)       Date:  2020-03-26       Impact factor: 4.096
  8 in total

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