Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

Human Mutation

Volumn 37, Issue 4, 2016, Pages 396-405

  Amirav, Israel ^a,i   Wallmeier, Julia ^b   Loges, Niki T ^b   Menchen, Tabea ^b   Pennekamp, Petra ^b   Mussaffi, Huda ^c   Abitbul, Revital ^a   Avital, Avraham ^d   Bentur, Lea ^e   Dougherty, Gerard W ^b   Nael, Elias ^f   Lavie, Moran ^g   Olbrich, Heike ^b   Werner, Claudius ^b   Kintner, Chris ^h   Omran, Heymut ^b   Alkrinawi, Soliman ^j   Aviram, Micha ^j   Rotschild, Moshe ^e   Blau, Hannah ^k   Kerem, Eytan ^d   Cohen Cymberknoh, Malena ^d   Shoseyov, David ^d   Springer, Chaim ^d   Hevroni, Avigdor ^d   Dabbah, Husein ^a   Elizur, Arnon ^c   Picard, Elie ^l   Goldberg, Shmuel ^l   Efrati, Ori ^m   Yahav, Yakov ^m   Luder, Anthony ⁿ   Rivlin, Joseph ^o   Livnat, Galit ^o   Roth, Yehudah ^p   Mandelberg, Avigdor ^p   Sivan, Yakov ^q   Soferman, Ruth ^q   more..

^a BAR ILAN UNIVERSITY   (Israel)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c TEL AVIV UNIVERSITY   (Israel)

^d HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^e RAMBAM MEDICAL CENTER   (Israel)

^f Ilan University   (Israel)

^g SHEBA MEDICAL CENTER   (Israel)

^h SALK INSTITUTE FOR BIOLOGICAL STUDIES   (United States)

ⁱ UNIVERSITY OF ALBERTA   (Canada)

^j BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^k SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^l SHAARE ZEDEK MEDICAL CENTER   (Israel)

^m Edmond and Lily Safra Children's Hospital   (Israel)

ⁿ Rebecca Sieff Government Hospital   (Israel)

^o CARMEL MEDICAL CENTER   (Israel)

^p WOLFSON MEDICAL CENTER   (Israel)

^q Dana Children's Hospital   (Israel)

more..

Author keywords

CCNO; Mucociliary clearance disorder; PCD; Primary ciliary dyskinesia; RGMC

Indexed keywords

ADULT; ANIMAL EXPERIMENT; ARTICLE; CCNO GENE; DIFFERENTIAL DIAGNOSIS; EMBRYO; FEMALE INFERTILITY; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HYDROCEPHALUS; ISRAEL; LUNG FUNCTION; MISSENSE MUTATION; MOUSE; NONHUMAN; PATHOGENICITY; PHENOTYPE; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; REDUCED GENERATION OF MULTIPLE MOTILE CILIA; RESPIRATORY TRACT DISEASE; ANIMAL; CILIARY MOTILITY DISORDERS; CLINICAL TRIAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE LOCUS; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; LUNG FUNCTION TEST; MALE; METABOLISM; MULTICENTER STUDY; MUTATION; PROTEIN TRANSPORT; THORAX RADIOGRAPHY; X-RAY COMPUTED TOMOGRAPHY; XENOPUS LAEVIS;

CCNO PROTEIN, HUMAN; DNA GLYCOSYLTRANSFERASE;

ANIMALS; CILIARY MOTILITY DISORDERS; DIAGNOSIS, DIFFERENTIAL; DNA GLYCOSYLASES; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENETIC TESTING; GENETIC VARIATION; HUMANS; MALE; MICE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROTEIN TRANSPORT; RADIOGRAPHY, THORACIC; RESPIRATORY FUNCTION TESTS; TOMOGRAPHY, X-RAY COMPUTED; XENOPUS LAEVIS;

EID: 84960487751     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22957     Document Type: Article

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