Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause-Reference-Cited by-同舟云学术

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Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

Published:2017-01-13 Issue:8 Volume:54 Page:521-529
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Poretti Andrea,Snow Joseph,Summers Angela C,Tekes Aylin,Huisman Thierry A G M,Aygun Nafi,Carson Kathryn A,Doherty Dan,Parisi Melissa A,Toro Camilo,Yildirimli Deniz,Vemulapalli Meghana,Mullikin Jim C,Cullinane Andrew R,Vilboux Thierry,Gahl William A,Gunay-Aygun Meral,

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Human Genome Research Institute

National Institute of Mental Health

National Center for Advancing Translational Sciences

National Center for Research Resources

National Institute of Neurological Disorders and Stroke

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference45 articles.

1. Joubert syndrome (and related disorders) (OMIM 213300);Parisi;Eur J Hum Genet,2007

2. Joubert syndrome: congenital cerebellar ataxia with the molar tooth;Romani;Lancet Neurol,2013

3. Bachmann-Gagescu R , Dempsey JC , Phelps IG , O'Roak BJ , Knutzen DM , Rue TC , Ishak GE , Isabella CR , Gorden N , Adkins J , Boyle EA , de Lacy N , O'Day D , Alswaid A , Ramadevi AR , Lingappa L , Lourenco C , Martorell L , Garcia-Cazorla A , Ozyurek H , Haliloglu G , Tuysuz B , Topcu M , University of Washington Center for Mendelian Genomics, Chance P , Parisi MA , Glass IA , Shendure J , Doherty D . Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 2015;52:514–22.

4. Ciliopathies;Hildebrandt;N Engl J Med,2011

5. Follow-up in children with Joubert syndrome;Steinlin;Neuropediatrics,1997

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