Mutations in CSPP1 cause primary cilia abnormalities and joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

American Journal of Human Genetics

Volumn 94, Issue 1, 2014, Pages 62-72

  Tuz, Karina ^a   Bachmann Gagescu, Ruxandra ^b   O'Day, Diana R ^c   Hua, Kiet ^a   Isabella, Christine R ^c   Phelps, Ian G ^c   Stolarski, Allan E ^a   O'Roak, Brian J ^d   Dempsey, Jennifer C ^c   Lourenco, Charles ^e   Alswaid, Abdulrahman ^f   Bönnemann, Carsten G ^g   Medne, Livija ^h   Nampoothiri, Sheela ⁱ   Stark, Zornitza ^j   Leventer, Richard J ^k   Topçu, Meral ^l   Cansu, Ali ^m   Jagadeesh, Sujatha ⁿ   Done, Stephen ^o   Ishak, Gisele E ^o   Glass, Ian A ^c,p   Shendure, Jay ^o   Neuhauss, Stephan C F ^b   Haldeman Englert, Chad R ^q   Doherty, Dan ^c,p   Ferland, Russell J ^a   more..

^a ALBANY MEDICAL COLLEGE   (United States)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^g NATIONAL INSTITUTES OF HEALTH   (United States)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁱ AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^j MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^k UNIVERSITY OF MELBOURNE   (Australia)

^l HACETTEPE UNIVERSITY   (Turkey)

^m KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

ⁿ MediScan Systems Chennai   (India)

^o UNIVERSITY OF WASHINGTON   (United States)

^p SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^q WAKE FOREST SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MORPHOLINO OLIGONUCLEOTIDE; SMALL INTERFERING RNA; ADENYLATE CYCLASE; ADENYLATE CYCLASE III; PROTEIN; PROTEIN ARL13B; UNCLASSIFIED DRUG;

ANTIBODY LABELING; APRAXIA; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; AXONEME; CEREBELLAR PEDUNCLE; CEREBELLUM VERMIS; CHROMOSOME 2; CHRONIC SINUSITIS; CILIARY MOTILITY; CLEFT PALATE; CONTROLLED STUDY; CSPP1 GENE; DISEASE SEVERITY; EMBRYO; ENCEPHALOCELE; EUKARYOTIC FLAGELLUM; EXOME; EXON; FIBROBLAST; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENE SILENCING; GENETIC CODE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYDROCEPHALUS; IN SITU HYBRIDIZATION; JEUNE ASPHYXIATING THORACIC DYSTROPHY; JOUBERT SYNDROME; LIVER FIBROSIS; MUSCLE HYPOTONIA; NEWBORN; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA DYSTROPHY; SINGLE NUCLEOTIDE POLYMORPHISM; TACHYPNEA; THORAX DISEASE; ZEBRA FISH; ADULT; ANIMAL MODEL; AUTOSOMAL RECESSIVE DISORDER; CENTROSOME AND SPINDLE POLE ASSOCIATED PROTEIN 1 GENE; CHILD; CHONDRODYSPLASIA; CLINICAL ARTICLE; COHORT ANALYSIS; GENE LOSS; GENETIC ASSOCIATION; GENETIC VARIABILITY; OSTEODYSTROPHY; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PROTEIN LOCALIZATION; SCHOOL CHILD; SKIN FIBROBLAST; THORAX MALFORMATION; YOUNG ADULT;

DANIO RERIO;

EID: 84891833623     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.11.019     Document Type: Article

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