Joubert syndrome in French Canadians and identification of mutations in CEP104

American Journal of Human Genetics

Volumn 97, Issue 5, 2015, Pages 744-753

  Srour, Myriam ^a,b   Hamdan, Fadi F ^a   McKnight, Dianalee ^c   Davis, Erica ^d   Mandel, Hanna ^e   Schwartzentruber, Jeremy ^b   Martin, Brissa ^c   Patry, Lysanne ^a   Nassif, Christina ^a   Dionne Laporte, Alexandre ^f   Ospina, Luis H ^a   Lemyre, Emmanuelle ^a   Massicotte, Christine ^a   Laframboise, Rachel ^g   Maranda, Bruno ^h   Labuda, Damian ^a   Décarie, Jean Claude ^a   Rypens, Françoise ^a   Goldsher, Dorith ⁱ   Fallet Bianco, Catherine ^a   Soucy, Jean François ^a   Laberge, Anne Marie ^a   Maftei, Catalina ^a   Boycott, Kym ^j   Brais, Bernard ^b   Boucher, Renée Myriam ^g   Rouleau, Guy A ^b,f   Katsanis, Nicholas ^d   Majewski, Jacek ^b   Elpeleg, Orly ^k   Kukolich, Mary K ^l   Shalev, Stavit ^m   Michaud, Jacques L ^a,n   more..

^a UNIVERSITY OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c GENEDX   (United States)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Metabolic Unit   (Israel)

^f MCGILL UNIVERSITY   (Canada)

^g LAVAL UNIVERSITY   (Canada)

^h CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

ⁱ RAMBAM MEDICAL CENTER   (Israel)

^j CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^k HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^l Hebrew University of Jerusalem ^*  (United States)

^m TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

ⁿ UNIVERSITÉ DE MONTRÉAL   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATAXIA; CANADIAN; CENTRIOLE; CEP104 GENE; CHILD; CLINICAL ARTICLE; EUKARYOTIC FLAGELLUM; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FUNCTION; GENE MUTATION; GENE SILENCING; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; INFANT; JOUBERT SYNDROME; KINETOSOME; MALE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; RETINA CELL; SEQUENCE ANALYSIS; ABNORMALITIES; ABNORMALITIES, MULTIPLE; ADOLESCENT; CANADA; CEREBELLUM; EYE ABNORMALITIES; FOLLOW UP; GENETICS; HIGH THROUGHPUT SEQUENCING; KIDNEY DISEASES, CYSTIC; METABOLISM; MUTATION; NEWBORN; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; PROGNOSIS; RETINA; YOUNG ADULT;

MICROTUBULE ASSOCIATED PROTEIN;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CANADA; CEREBELLUM; CHILD; CHILD, PRESCHOOL; CILIA; EXOME; EYE ABNORMALITIES; FEMALE; FOLLOW-UP STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY DISEASES, CYSTIC; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE; PROGNOSIS; RETINA; YOUNG ADULT;

EID: 84947998109     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.09.009     Document Type: Article

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