Strømme Syndrome Is a Ciliary Disorder Caused by Mutations inCENPF-Reference-Cited by-同舟云学术

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations inCENPF

Published:2016-02-09 Issue:4 Volume:37 Page:359-363
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Filges Isabel¹,Bruder Elisabeth²,Brandal Kristin³,Meier Stephanie¹,Undlien Dag Erik³,Waage Trine Rygvold⁴,Hoesli Irene⁵,Schubach Max⁶,de Beer Tjaart⁷,Sheng Ying³,Hoeller Sylvia²,Schulzke Sven⁸,Røsby Oddveig³,Miny Peter¹,Tercanli Sevgi⁹,Oppedal Truls¹⁰,Meyer Peter²,Selmer Kaja Kristine³,Strømme Petter¹¹

Affiliation:

1. Medical Genetics; University Hospital Basel; Basel Switzerland

2. Pathology; University Hospital Basel; Basel Switzerland

3. Department of Medical Genetics; Oslo University Hospital and University of Oslo; Oslo Norway

4. Section of Paediatric Neurohabilitation; Department of Clinical Neurosciences for Children; Oslo University Hospital, Ullevål; Oslo Norway

5. Obstetrics and Gynecology; University Hospital Basel; Basel Switzerland

6. Institute for Medical and Human Genetics; Charité-Universitätsmedizin Berlin; Berlin Germany

7. Biozentrum and Swiss Institute of Bioinformatics; University of Basel; Basel Switzerland

8. Neonatology; University Children's Hospital Basel; Basel Switzerland

9. Centre for Prenatal Ultrasound; Basel Switzerland

10. Department of Ophthalmology; Section for Pediatric Ophthalmology; Oslo University Hospital, Ullevål; Oslo Norway

11. Section for Clinical Neurosciences; Department of Pediatrics; Oslo University Hospital and University of Oslo; Oslo Norway

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22960/fullpdf

Reference20 articles.

1. Validity of the Wechsler abbreviated scale of intelligence and other very short forms of estimating intellectual functioning;Axelrod;Assessment,2002

2. Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study;Bellini;Am J Med Genet,2002

3. Unstable microtubule capture at kinetochores depleted of the centromere-associated protein CENP-F;Bomont;EMBO J,2005

4. New case of "apple-peel" intestinal atresia and ocular anomalies with mosaic variegated aneuploidy;Bower;Am J Med Genet A,2003

5. CEP290, a gene with many faces: mutation overview and presentation of CEP290base;Coppieters;Hum Mutat,2010

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Early-stage biomarkers identification by integrated genomic analysis in hepatocellular carcinoma;Medicine in Omics;2024-12

2. Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes;American Heart Journal;2022-02

3. Clinical and genetic heterogeneity of primary ciliopathies (Review);International Journal of Molecular Medicine;2021-07-15

4. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1;Molecular Case Studies;2021-05-21

5. Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis;The American Journal of Human Genetics;2021-03