Healthcare recommendations for Joubert syndrome-Reference-Cited by-同舟云学术

Healthcare recommendations for Joubert syndrome

Published:2019-11-11 Issue:1 Volume:182 Page:229-249
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bachmann‐Gagescu Ruxandra¹²,Dempsey Jennifer C.³^ORCID,Bulgheroni Sara⁴,Chen Maida L.³⁵,D'Arrigo Stefano⁴,Glass Ian A.³,Heller Theo⁶,Héon Elise⁷⁸,Hildebrandt Friedhelm⁹¹⁰^ORCID,Joshi Nirmal¹¹¹²,Knutzen Dana¹³¹⁴,Kroes Hester Y.¹⁵,Mack Stephen H.¹⁶,Nuovo Sara¹⁷¹⁸,Parisi Melissa A.¹⁹,Snow Joseph²⁰,Summers Angela C.²⁰²¹^ORCID,Symons Jordan M.³²²,Zein Wadih M.²³,Boltshauser Eugen²⁴,Sayer John A.²⁵²⁶²⁷,Gunay‐Aygun Meral²⁸²⁹,Valente Enza Maria¹⁷³⁰,Doherty Dan³³¹^ORCID

Affiliation:

1. Institute of Molecular Life Sciences University of Zurich Zurich Switzerland

2. Institute of Medical Genetics University of Zurich Schlieren Switzerland

3. Department of Pediatrics University of Washington School of Medicine Seattle Washington

4. Developmental Neurology Division Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

5. Division of Pulmonary and Sleep Medicine Seattle Children's Hospital Seattle Washington

6. Liver Diseases Branch National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health Bethesda Maryland

7. Department of Surgery Hospital for Sick Children Toronto Ontario Canada

8. Department of Ophthalmology and Vision Science University of Toronto Toronto Ontario Canada

9. Department of Pediatrics Harvard Medical School Boston Massachusetts

10. Division of Nephrology Boston Children's Hospital Boston Massachusetts

11. Department of Anesthesia Deaconess Hospital Evansville Indiana

12. Anesthesia Dynamics, LLC Evansville Indiana

13. Department of Obstetrics and Gynecology Baylor College of Medicine Houston Texas

14. The Children's Hospital of San Antonio San Antonio Texas

15. Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands

16. Joubert Syndrome and Related Disorders Foundation Petaluma California

17. Neurogenetics Lab IRCCS Santa Lucia Foundation Rome Italy

18. Department of Medicine and Surgery University of Salerno Salerno Italy

19. Intellectual and Developmental Disabilities Branch Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health Bethesda Maryland

20. Office of the Clinical Director National Institute of Mental Health, National Institutes of Health Bethesda Maryland

21. Department of Psychology Fordham University Bronx New York

22. Division of Nephrology Seattle Children's Hospital Seattle Washington

23. Ophthalmic Genetics and Visual Function Branch National Eye Institute, National Institutes of Health Bethesda Maryland

24. Department of Pediatric Neurology (emeritus) Children's University Hospital Zürich Switzerland

25. Institute of Genetic Medicine Newcastle University Newcastle upon Tyne UK

26. Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

27. NIHR Newcastle Biomedical Research Centre Newcastle upon Tyne UK

28. Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland

29. Department of Pediatrics and McKusick‐Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland

30. Department of Molecular Medicine University of Pavia Pavia Italy

31. Center for Integrative Brain Research Seattle Children's Research Institute Seattle Washington

Funder

European Research Council

Fondazione Pierfranco e Luisa Mariani

Kidney Research UK

Medical Research Council Canada

National Institute of Child Health and Human Development

National Institute of Neurological Disorders and Stroke

National Institutes of Health

Northern Counties Kidney Research Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61399

Reference147 articles.

1. In search of triallelism in Bardet–Biedl syndrome

2. Mutations in CSPP1 Lead to Classical Joubert Syndrome

3. Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

4. ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

5. History of Joubert Syndrome and a 30-Year Follow-Up of the Original Proband

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