Literature DB >> 24896151

Clinical utility gene card for: Angelman Syndrome.

Karin Buiting1, Jill Clayton-Smith2, Daniel J Driscoll3, Gabriele Gillessen-Kaesbach4, Deniz Kanber1, Eberhard Schwinger4, Charles Williams3, Bernhard Horsthemke1.   

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Year:  2014        PMID： 24896151      PMCID： PMC4297916          DOI： 10.1038/ejhg.2014.93

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


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  4 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.  Molecular and Clinical Aspects of Angelman Syndrome.

Authors:  A Dagli; K Buiting; C A Williams
Journal:  Mol Syndromol       Date:  2011-07-28

Review 3.  If not Angelman, what is it? A review of Angelman-like syndromes.

Authors:  Wen-Hann Tan; Lynne M Bird; Ronald L Thibert; Charles A Williams
Journal:  Am J Med Genet A       Date:  2014-04       Impact factor: 2.802

4.  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
  4 in total
  12 in total

Review 1.  Angelman syndrome - insights into a rare neurogenetic disorder.

Authors:  Karin Buiting; Charles Williams; Bernhard Horsthemke
Journal:  Nat Rev Neurol       Date:  2016-09-12       Impact factor: 42.937

Review 2.  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

3.  Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.

Authors:  Susanne Bens; Manuel Luedeke; Tanja Richter; Melanie Graf; Julia Kolarova; Gotthold Barbi; Krisztian Lato; Thomas F Barth; Reiner Siebert
Journal:  Clin Epigenetics       Date:  2017-10-13       Impact factor: 6.551

4.  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 5.  Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches.

Authors:  Merlin G Butler; Jessica Duis
Journal:  Front Pediatr       Date:  2020-05-12       Impact factor: 3.418

Review 6.  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

7.  Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman Syndrome.

Authors:  Elizabeth L Berg; Stela P Petkova; Heather A Born; Anna Adhikari; Anne E Anderson; Jill L Silverman
Journal:  Mol Autism       Date:  2021-09-15       Impact factor: 7.509

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

Review 9.  Clinical characteristics and epilepsy in genomic imprinting disorders: Angelman syndrome and Prader-Willi syndrome.

Authors:  Tzong-Shi Wang; Wen-Hsin Tsai; Li-Ping Tsai; Shi-Bing Wong
Journal:  Ci Ji Yi Xue Za Zhi       Date:  2019-10-31

Review 10.  Ocular findings and strabismus surgery outcomes in Chinese children with Angelman syndrome: Three case reports.

Authors:  Haiyun Ye; Xiaoping Lan; Qingyu Liu; Yidan Zhang; Siying Wang; Ce Zheng; Yue Di; Tong Qiao
Journal:  Medicine (Baltimore)       Date:  2019-12       Impact factor: 1.889
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