Literature DB >> 27031564

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

Małgorzata Krajewska-Walasek1, Dorota Jurkiewicz1, Dorota Piekutowska-Abramczuk1, Marzena Kucharczyk1, Krystyna H Chrzanowska1, Aleksandra Jezela-Stanek1, Elżbieta Ciara1.   

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Year:  2016        PMID： 27031564     DOI： 10.1002/ajmg.a.37641

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.

Authors:  Minh-Tuan Huynh; Elise Boudry-Labis; Alfred Massard; Caroline Thuillier; Bruno Delobel; Bénédicte Duban-Bedu; Catherine Vincent-Delorme
Journal:  Eur J Hum Genet       Date:  2018-06-13       Impact factor: 4.246

2.  The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.

Authors:  Illana Gozes; Marc C Patterson; Anke Van Dijck; R Frank Kooy; Joseph N Peeden; Jacob A Eichenberger; Angela Zawacki-Downing; Sandra Bedrosian-Sermone
Journal:  Front Endocrinol (Lausanne)       Date:  2017-05-19       Impact factor: 5.555

3.  Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Authors:  Anke Van Dijck; Anneke T Vulto-van Silfhout; Elisa Cappuyns; Ilse M van der Werf; Grazia M Mancini; Andreas Tzschach; Raphael Bernier; Illana Gozes; Evan E Eichler; Corrado Romano; Anna Lindstrand; Ann Nordgren; Malin Kvarnung; Tjitske Kleefstra; Bert B A de Vries; Sébastien Küry; Jill A Rosenfeld; Marije E Meuwissen; Geert Vandeweyer; R Frank Kooy
Journal:  Biol Psychiatry       Date:  2018-03-15       Impact factor: 13.382

4.  Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.

Authors:  Michael S Breen; Paras Garg; Lara Tang; Danielle Mendonca; Tess Levy; Mafalda Barbosa; Anne B Arnett; Evangeline Kurtz-Nelson; Emanuele Agolini; Agatino Battaglia; Andreas G Chiocchetti; Christine M Freitag; Alicia Garcia-Alcon; Paola Grammatico; Irva Hertz-Picciotto; Yunin Ludena-Rodriguez; Carmen Moreno; Antonio Novelli; Mara Parellada; Giulia Pascolini; Flora Tassone; Dorothy E Grice; Daniele Di Marino; Raphael A Bernier; Alexander Kolevzon; Andrew J Sharp; Joseph D Buxbaum; Paige M Siper; Silvia De Rubeis
Journal:  Am J Hum Genet       Date:  2020-08-05       Impact factor: 11.043
  4 in total

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