EIF2S3Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO-Reference-Cited by-同舟云学术

EIF2S3Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

Published:2017-01-23 Issue:4 Volume:38 Page:409-425
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Skopkova Martina¹,Hennig Friederike²,Shin Byung-Sik³,Turner Clesson E.⁴,Stanikova Daniela¹⁵,Brennerova Katarina⁵,Stanik Juraj¹⁵⁶,Fischer Ute²,Henden Lyndal⁷⁸,Müller Ulrich⁹,Steinberger Daniela⁹¹⁰,Leshinsky-Silver Esther¹¹¹²¹³,Bottani Armand¹⁴,Kurdiova Timea¹,Ukropec Jozef¹,Nyitrayova Olga¹⁵,Kolnikova Miriam¹⁶,Klimes Iwar¹,Borck Guntram¹⁷,Bahlo Melanie⁷⁸,Haas Stefan A.¹⁸,Kim Joo-Ran³,Lotspeich-Cole Leda E.³,Gasperikova Daniela¹,Dever Thomas E.³,Kalscheuer Vera M.²

Affiliation:

1. DIABGENE & Laboratory of Diabetes and Metabolic Disorders; Institute of Experimental Endocrinology; Biomedical Research Center; Slovak Academy of Sciences; Bratislava Slovakia

2. Research Group Development and Disease; Max Planck Institute for Molecular Genetics; Berlin Germany

3. Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; Bethesda Maryland USA

4. Department of Genetics; Walter Reed National Military Medical Center; Bethesda Maryland USA

5. First Department of Pediatrics; Medical Faculty of Comenius University; Bratislava Slovakia

6. Center for Pediatric Research Leipzig; Hospital for Children & Adolescents; University of Leipzig; Germany

7. Population Health and Immunity Division; The Walter and Eliza Hall Institute of Medical Research; Melbourne VIC Australia

8. Department of Medical Biology; University of Melbourne; Melbourne VIC Australia

9. Institut für Humangenetik; Justus-Liebig-Universität Giessen; Giessen Germany

10. bio.logis Center for Human Genetics; Frankfurt a. M. Germany

11. Institute of Medical Genetics; Wolfson Medical Center; Holon Israel

12. Metabolic-Neurogenetic Clinic; Wolfson Medical Center; Holon Israel

13. Molecular Genetics Laboratory; Wolfson Medical Center; Holon Israel

14. Service of Genetic Medicine; Geneva University Hospitals; Geneva Switzerland

15. Cytopathos; Bratislava Slovakia

16. Department of Pediatric Neurology; Medical Faculty of Comenius University; Bratislava Slovakia

17. Institute of Human Genetics; University of Ulm; Ulm Germany

18. Department of Computational Molecular Biology; Max Planck Institute for Molecular Genetics; Berlin Germany

Funder

Ministerstvo školstva, vedy, výskumu a športu Slovenskej republiky

Agentúra na Podporu Výskumu a Vývoja

Transendogen

National Institutes of Health

John and Patricia Farrant Scholarship

Australian Postgraduate Award Scholarship

NHMRC Senior Research Fellowship

National Health and Medical Research Council

Victorian State Government Operational Infrastructure Support, Australian Government NHMRC IRIISS.

Seventh Framework Programme

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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3. A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature, and microcephaly;Abdulkarim;Diabetes,2015

4. Translation initiation factor 2gamma mutant alters start codon selection independent of Met-tRNA binding;Alone;Mol Cell Biol,2008

5. Generating linkage mapping files from affymetrix SNP chip data;Bahlo;Bioinformatics,2009

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