Intrafamilial clinical heterogeneity of CSPP1 -related ciliopathy-Reference-Cited by-同舟云学术

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Intrafamilial clinical heterogeneity of CSPP1 -related ciliopathy

Published:2015-05-22 Issue:10 Volume:167 Page:2478-2480
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ben-Omran Tawfeg¹,Alsulaiman Reem¹,Kamel Hussein²,Shaheen Ranad³,Alkuraya Fowzan S.³⁴

Affiliation:

1. Department of Pediatrics; Section of Clinical and Metabolic Genetics; Doha Qatar

2. Department of Radiology; Hamad Medical Corporation, and Weill Cornell Medical College; Doha Qatar

3. Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

4. Department of Anatomy and Cell Biology; College of Medicine, Alfaisal University; Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37175/fullpdf

Reference11 articles.

1. In search of triallelism in Bardet-Biedl syndrome;Abu-Safieh;Eur J Hum Genet,2012

2. Mutations in CSPP1 lead to classical Joubert syndrome;Akizu;Am J Hum Genet,2014

3. The application of next-generation sequencing in the autozygosity mapping of human recessive diseases;Alkuraya;Hum Genet,2013

4. Synchronous and stochastic patterns of gene activation in the Drosophila embryo;Boettiger;Science,2009

5. Predicting mutation outcome from early stochastic variation in genetic interaction partners;Burga;Nature,2011

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1. Identifies microtubule-binding protein CSPP1 as a novel cancer biomarker associated with ferroptosis and tumor microenvironment;Computational and Structural Biotechnology Journal;2022

2. Non-ciliary Roles of IFT Proteins in Cell Division and Polycystic Kidney Diseases;Frontiers in Cell and Developmental Biology;2020-09-22

3. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy;Clinical Genetics;2020-08-03

4. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities;American Journal of Medical Genetics Part A;2018-01-31

5. Primary cilia proteins: ciliary and extraciliary sites and functions;Cellular and Molecular Life Sciences;2018-01-05

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