Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus-Reference-Cited by-同舟云学术

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Published:2019-04-22 Issue:6 Volume:142 Page:1528-1534
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Mayer Anja K¹^ORCID,Mahajnah Muhammad²³,Thomas Mervyn G⁴,Cohen Yuval³⁵,Habib Adib⁶,Schulze Martin⁷,Maconachie Gail D.E⁴,AlMoallem Basamat⁸⁹,De Baere Elfride⁸,Lorenz Birgit¹⁰,Traboulsi Elias I¹¹,Kohl Susanne¹,Azem Abdussalam¹²,Bauer Peter⁷,Gottlob Irene⁴,Sharkia Rajech¹³¹⁴,Wissinger Bernd¹

Affiliation:

1. Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany

2. Child Neurology and Development Center, Hillel-Yaffe Medical Center, Hadera, Israel

3. The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel

4. Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK

5. Ophthalmology Department, Hillel Yaffe Medical Center, Hadera, Israel

6. Pediatric Department, St. Vincent French Hospital, Nazareth, Israel

7. Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany

8. Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium

9. Department of Ophthalmology, King Abdul-Aziz University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia

10. Department of Ophthalmology, Justus Liebig University Giessen, Giessen, Germany

11. Cole Eye Institute, Cleveland, Ohio, USA

12. Department of Biochemistry and Molecular Biology, Tel Aviv University, Tel Aviv, Israel

13. The Triangle Regional Research and Development Center, Kfar Qari’, Israel

14. Beit-Berl Academic College, Beit-Berl, Israel

Funder

German Research Foundation

DFG

Trilateral Cooperation Project

Ludger Schöls, Hertie Institute for Clinical Brain Research

University of Tübingen

Fight for Sight

Ghent University Special Research Fund

Senior Clinical Investigator of the Research Foundation Flanders

FWO

NIHR

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awz098/28496172/awz098.pdf

Reference35 articles.

1. PAX6 missense mutation in isolated foveal hypoplasia;Azuma;Nat Genet,1996

2. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome;Bassi;Nat Genet,1995

3. A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3;Cabot;Am J Hum Genet,1999

4. Oculomotor deficits in aryl hydrocarbon receptor null mouse;Chevallier;PLoS One,2013

5. Survey of management of acquired nystagmus in the United Kingdom;Choudhuri;Eye (Lond),2007

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