Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach-Reference-Cited by-同舟云学术

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Published:2015-02-25 Issue:3 Volume:3 Page:203-214
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Marques Isabel¹²,Sá Maria João³²,Soares Gabriela³,Mota Maria do Céu⁴,Pinheiro Carla⁵,Aguiar Lisa⁶,Amado Marta⁷,Soares Christina⁷,Calado Angelina⁷,Dias Patrícia⁸,Sousa Ana Berta⁸,Fortuna Ana Maria³²,Santos Rosário¹²,Howell Katherine B.⁹¹⁰¹¹,Ryan Monique M.⁹¹⁰¹¹,Leventer Richard J⁹¹⁰¹¹,Sachdev Rani¹²,Catford Rachael¹³,Friend Kathryn¹³,Mattiske Tessa R.¹⁴¹⁵,Shoubridge Cheryl¹⁴¹⁵,Jorge Paula¹²

Affiliation:

1. Unidade de Genética Molecular Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, EPE Porto Portugal

2. Unit for Multidisciplinary Research in Biomedicine UMIB, ICBAS‐UP Porto Portugal

3. Unidade de Genética Médica Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, EPE Porto Portugal

4. Department of Pediatrics Centro Hospitalar do Porto, EPE Porto Portugal

5. Department of Pediatrics Hospital Santa Maria Maior, EPE Barcelos Portugal

6. Department of Pediatrics Hospital Distrital de Santarém, EPE Santarém Portugal

7. Department of Pediatrics Unidade Hospitalar de Portimão Centro Hospitalar do Algarve Portimão Portugal

8. Department of Genetics Hospital de Santa Maria Lisboa Portugal

9. Department of Neurology Royal Children's Hospital Melbourne Victoria Australia

10. Murdoch Childrens Research Institute Melbourne Victoria Australia 3052

11. University of Melbourne Department of Paediatrics Melbourne Victoria Australia 3052

12. Department of Medical Genetics Sydney Children's Hospital High St. Randwick New South Wales 2031 Australia

13. SA Pathology at the Women's and Children's Hospital North Adelaide South Australia Australia

14. Department of Paediatrics University of Adelaide Adelaide South Australia 5006 Australia

15. Robinson Research Institute University of Adelaide Adelaide South Australia 5006 Australia

Funder

FCT - Foundation for Science and Technology

Australian National Health and Medical Research Council

Australian Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.133

Reference42 articles.

1. Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of theARXgene: rethinking theARXphenotype in females

2. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

3. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

4. Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1

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