Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1074-1078

  Travaglini, Lorena ^a,b   Brancati, Francesco ^a,c   Silhavy, Jennifer ^d,e   Iannicelli, Miriam ^a   Nickerson, Elizabeth ^f   Elkhartoufi, Nadia ^g   Scott, Eric ^d,e   Spencer, Emily ^d,e   Gabriel, Stacey ^f   Thomas, Sophie ^g   Ben Zeev, Bruria ^h   Bertini, Enrico ^b   Boltshauser, Eugen ⁱ   Chaouch, Malika ^j   Cilio, Maria Roberta ^b   De Jong, Mirjam M ^k   Kayserili, Hulya ^l   Ogur, Gonul ^m   Poretti, Andrea ^i,n   Signorini, Sabrina ^o   Uziel, Graziella ^p   Zaki, Maha S ^q   Johnson, Colin ^r   Attié Bitach, Tania ^g   Gleeson, Joseph G ^d,e   Valente, Enza Maria ^a,s   Ali Pacha, L ^t   Zankl, A ^t   Leventer, R ^t   Grattan Smith, P ^t   Janecke, A ^t   Koch, J ^t   Freilinger, M ^t   D'Hooghe, M ^t   Sznajer, Y ^t   Vilain, C ^t   Van Coster, R ^t   Demerleir, L ^t   Dias, K ^t   Moco, C ^t   Moreira, A ^t   Ae Kim, C ^t   Maegawa, G ^t   Dakovic, I ^t   Loncarevic, D ^t   Mejaski Bosnjak, V ^t   Petkovic, D ^t   Abdel Salam, G M H ^q   Abdel Aleem, A ^q   Marti, I ^t   Pinard, J M ^t   Quijano Roy, S ^t   Sigaudy, S ^t   De Lonlay, P ^g   Romano, S ^g   Verloes, A ^g   Touraine, R ^t   Koenig, M ^t   Dollfus, H ^t   Flori, E ^t   Fradin, M ^t   Lagier Tourenne, C ^t   Messer, J ^t   Collignon, P ^t   Penzien, J M ^t   Bussmann, C ^t   Merkenschlager, A ^t   Philippi, H ^t   Kurlemann, G ^t   Grundmann, K ^t   Dacou Voutetakis, C ^t   Kitsiou Tzeli, S ^t   Pons, R ^t   Jerney, J ^t   Halldorsson, S ^t   Johannsdottir, J ^t   Ludvigsson, P ^t   Phadke, S R ^t   Girisha, K M ^t   Doshi, H ^t   Udani, V ^t   Kaul, M ^t   Stuart, B ^t   Magee, A ^t   Spiegel, R ^t   Shalev, S ^t   Mandel, H ^t   Lev, D ^t   Michelson, M ^t   Idit, M ^t   Ben Zeev, B ^t   Gershoni Baruch, R ^t   Ficcadenti, A ^t   Fischetto, R ^t   Gentile, M ^t   Della Monica, M ^t   Pezzani, M ^t   Graziano, C ^t   Seri, M ^t   Benedicenti, F ^t   Stanzial, F ^t   Borgatti, R ^t   Romaniello, R ^t   Accorsi, P ^t   Battaglia, S ^t   Fazzi, E ^t   Giordano, L ^t   Pinelli, L ^t   Boccone, L ^t   Barone, R ^t   Sorge, G ^t   Briatore, E ^t   Bigoni, S ^t   Ferlini, A ^t   Donati, M A ^t   Biancheri, R ^t   Caridi, G ^t   Divizia, M T ^t   Faravelli, F ^t   Ghiggeri, G ^t   Mirabelli, M ^t   Pessagno, A ^t   Rossi, A ^t   Uliana, V ^t   Amorini, M ^t   Briguglio, M ^t   Briuglia, S ^t   Salpietro, C D ^t   Tortorella, G ^t   Adami, A ^p   Bonati, M T ^p   Castorina, P ^p   D'Arrigo, S ^p   Lalatta, F ^p   Marra, G ^p   Moroni, I ^p   Pantaleoni, C ^p   Riva, D ^p   Scelsa, B ^p   Spaccini, L ^p   Del Giudice, E ^t   Ludwig, K ^t   Permunian, A ^t   Suppiej, A ^t   Macaluso, C ^t   Pichiecchio, A ^o   Battini, R ^t   Di Giacomo, M ^t   Priolo, M ^t   Timpani, P ^t   Pagani, G ^t   Di Sabato, M L ^b   Emma, F ^b   Leuzzi, V ^b   Mancini, F ^b   Majore, S ^b   Micalizzi, A ^b   Parisi, P ^b   Romani, M ^b   Stringini, G ^b   Zanni, G ^b   Ulgheri, L ^t   Pollazzon, M ^t   Renieri, A ^t   Belligni, E ^t   Grosso, E ^t   Pieri, I ^t   Silengo, M ^t   Devescovi, R ^t   Greco, D ^t   Romano, C ^t   Cazzagon, M ^t   Simonati, A ^t   Al Tawari, A A ^t   Bastaki, L ^t   Megarbane A ^t   Sabolic Avramovska, V ^t   Said, E ^t   Stromme, P ^t   Koul, R ^t   Rajab, A ^t   Azam, M ^t   Barbot, C ^t   Salih, M A ^t   Tabarki, B ^t   Jocic Jakubi, B ^t   Martorell Sampol, L ^t   Rodriguez, B ^t   Pascual Castroviejo, I ^t   Gener, B ^t   Puschmann, A ^t   Starck, L ^t   Capone, A ^t   Lemke, J ^t   Fluss, J ^t   Niedrist, D ⁱ   Hennekam, R C M ^t   Wolf, N ^t   Gouider Khouja, N ^t   Kraoua, I ^t   Ceylaner, S ^t   Teber, S ^t   Akgul, M ^t   Anlar, B ^l   Comu, S ^l   Yuksel A ^l   Akcakus, M ^t   Caglayan, A O ^t   Aldemir, O ^t   Al Gazali, L ^t   Sztriha, L ^t   Nicholl, D ^t   Woods, C G ^f   Bennett, C ^r   Hurst, J ^r   Sheridan, E ^r   Barnicoat, A ^t   Hemingway, C ^t   Lees, M ^t   Wakeling, E ^t   Blair, E ^t   Bernes, S ^t   Sanchez, H ^t   Clark, A E ^t   De Marco, E ^t   Donahue, C ^t   Sherr, E ^t   Hahn, J ^t   Sanger, T D ^t   Gallager, T E ^t   Daugherty, C ^t   Krishnamoorthy, K S ^t   Sarco, D ^t   Walsh, C A ^t   McKanna, T ^t   Milisa, J ^t   Chung, W K ^t   De Vivo, D C ^t   Raynes, H ^t   Schubert, R ^t   Seward, A ^t   Brooks, D G ^t   Goldstein, A ^t   Caldwell, J ^t   Finsecke, E ^t   Maria, B L ^t   Holden, K ^t   Cruse, R P ^t   Karaca, E ^t   Swoboda, K J ^t   Viskochil, D ^t   Dobyns, W B ^t   more..

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Institute for Genomic Medicine   (United States)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h SHEBA MEDICAL CENTER   (Israel)

ⁱ UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^j Centre Hospitalier Universitaire Ben Aknoun   (Algeria)

^k UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^l ISTANBUL UNIVERSITY   (Turkey)

^m ONDOKUZ MAYIS UNIVERSITY   (Turkey)

ⁿ JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^p DEPARTMENT OF NEUROSURGERY   (Italy)

^q NATIONAL RESEARCH CENTRE   (Egypt)

^r WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^s UNIVERSITY OF SALERNO   (Italy)

^t NONE   (United States)

more..

Author keywords

ciliopathies; INPP5E; Joubert syndrome and related disorders; Meckel syndrome

Indexed keywords

ALLELE; ANALYSIS; ARACHNOID CYST; ARTICLE; BREATHING DISORDER; BRUXISM; CLINICAL FEATURE; COLOBOMA; FEMALE; FETUS; GENE; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; INPP5E GENE; JOUBERT SYNDROME; MAJOR CLINICAL STUDY; MALE; MUSCLE HYPOTONIA; MUTATION; MUTATION RATE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PTOSIS; RETINOPATHY;

ADOLESCENT; AMINO ACID SEQUENCE; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; CILIARY MOTILITY DISORDERS; ENCEPHALOCELE; EYE ABNORMALITIES; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHORIC MONOESTER HYDROLASES; POLYCYSTIC KIDNEY DISEASES; PRENATAL DIAGNOSIS; PREVALENCE; RETINA;

EID: 84884592278     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.305     Document Type: Article

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