Literature DB >> 23494950

Antisense may make sense of 1q44 deletions, seizures, and HNRNPU.

Martin Poot, Martien J Kas.   

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Year:  2013        PMID： 23494950     DOI： 10.1002/ajmg.a.35770

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


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  8 in total

1.  Intragenic Deletions May Involve Enhancer Sequences and Alter CNTNAP2 Expression.

Authors:  Martin Poot
Journal:  Mol Syndromol       Date:  2018-05-09

Review 2.  Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders.

Authors:  Martin Poot
Journal:  Mol Syndromol       Date:  2015-02-03

3.  Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Authors:  Nuria C Bramswig; Hermann-Josef Lüdecke; Fadi F Hamdan; Janine Altmüller; Filippo Beleggia; Nursel H Elcioglu; Catharine Freyer; Erica H Gerkes; Yasemin Kendir Demirkol; Kelly G Knupp; Alma Kuechler; Yun Li; Daniel H Lowenstein; Jacques L Michaud; Kristen Park; Alexander P A Stegmann; Hermine E Veenstra-Knol; Thomas Wieland; Bernd Wollnik; Hartmut Engels; Tim M Strom; Tjitske Kleefstra; Dagmar Wieczorek
Journal:  Hum Genet       Date:  2017-04-09       Impact factor: 4.132

Review 4.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15

5.  Control of CNS functions by RNA-binding proteins in neurological diseases.

Authors:  Yijing Zhou; Fengping Dong; Yingwei Mao
Journal:  Curr Pharmacol Rep       Date:  2018-05-02

6.  Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

Authors:  Nancy Choucair; Joelle Abou Ghoch; Sandra Corbani; Pierre Cacciagli; Cecile Mignon-Ravix; Nabiha Salem; Nadine Jalkh; Sandra El Sabbagh; Ali Fawaz; Tony Ibrahim; Laurent Villard; André Mégarbané; Eliane Chouery
Journal:  Mol Cytogenet       Date:  2015-04-09       Impact factor: 2.009

7.  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

8.  A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.

Authors:  Xiaonan Du; Yu An; Lifei Yu; Renchao Liu; Yanrong Qin; Xiaohong Guo; Daokan Sun; Shuizhen Zhou; Bailin Wu; Yong-Hui Jiang; Yi Wang
Journal:  BMC Med Genet       Date:  2014-05-29       Impact factor: 2.103
  8 in total

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