Literature DB >> 24700746

Duplication of AKT3 is associated with macrocephaly and speech delay.

Brian K Chung1, Patrice Eydoux, Clara D Van Karnebeek, William T Gibson.   

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Year:  2014        PMID： 24700746     DOI： 10.1002/ajmg.a.36521

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


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  4 in total

1.  Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Authors:  Diana Alcantara; Andrew E Timms; Karen Gripp; Laura Baker; Kaylee Park; Sarah Collins; Chi Cheng; Fiona Stewart; Sarju G Mehta; Anand Saggar; László Sztriha; Melinda Zombor; Oana Caluseriu; Ronit Mesterman; Margot I Van Allen; Adeline Jacquinet; Sofia Ygberg; Jonathan A Bernstein; Aaron M Wenger; Harendra Guturu; Gill Bejerano; Natalia Gomez-Ospina; Anna Lehman; Enrico Alfei; Chiara Pantaleoni; Valerio Conti; Renzo Guerrini; Ute Moog; John M Graham; Robert Hevner; William B Dobyns; Mark O'Driscoll; Ghayda M Mirzaa
Journal:  Brain       Date:  2017-10-01       Impact factor: 13.501

Review 2.  Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Authors:  Filomena Pirozzi; Benson Lee; Nicole Horsley; Deepika D Burkardt; William B Dobyns; John M Graham; Maria L Dentici; Claudia Cesario; Jens Schallner; Joseph Porrmann; Nataliya Di Donato; Pedro A Sanchez-Lara; Ghayda M Mirzaa
Journal:  Am J Med Genet A       Date:  2021-06-04       Impact factor: 2.802

3.  Genetic Deletion of Akt3 Induces an Endophenotype Reminiscent of Psychiatric Manifestations in Mice.

Authors:  Yan Bergeron; Geneviève Bureau; Marie-Élaine Laurier-Laurin; Eric Asselin; Guy Massicotte; Michel Cyr
Journal:  Front Mol Neurosci       Date:  2017-04-10       Impact factor: 5.639

4.  The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.

Authors:  Fátima Lopes; Fátima Torres; Gabriela Soares; Clara D van Karnebeek; Cecília Martins; Diana Antunes; João Silva; Lauren Muttucomaroe; Luís Filipe Botelho; Susana Sousa; Paula Rendeiro; Purificação Tavares; Hilde Van Esch; Evica Rajcan-Separovic; Patrícia Maciel
Journal:  Front Genet       Date:  2019-02-22       Impact factor: 4.599
  4 in total

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