Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX-Reference-Cited by-同舟云学术

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Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

Published:2013-11-25 Issue:1 Volume:35 Page:36-40
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Adly Nouran¹,Alhashem Amal²³,Ammari Amer²,Alkuraya Fowzan S.¹⁴

Affiliation:

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

2. Department of Pediatrics; Prince Sultan Military Medical City; Riyadh Saudi Arabia

3. Patterns of Fetal Malformations in The Saudi Population Group; Prince Sultan Military Medical City; 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/humu.22477/fullpdf

Reference25 articles.

1. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects;Abdelhamed;Hum Mol Genet,2013

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

3. Molecular characterization of Joubert syndrome in Saudi Arabia;Alazami;Hum Mutat,2012

4. Discovery of rare homozygous mutations from studies of consanguineous pedigrees;Alkuraya;Curr Protoc Hum Genet Chapter,2012

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

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1. Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1‐related ciliopathy spectrum;American Journal of Medical Genetics Part A;2024-06-25

2. Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes;The Journal of Clinical Endocrinology & Metabolism;2024-05-08

3. Positioning centrioles and centrosomes;Journal of Cell Biology;2024-03-21

4. Emerging insights into CP110 removal during early steps of ciliogenesis;Journal of Cell Science;2024-02-15

5. A screen of mutants generated and imaged by the International Mouse Phenotyping Consortium identifies 39 novel genes regulating the development of the secondary palate;2024-02-12

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