361 related articles for article (PubMed ID: 23386033)
1. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L; Brancati F; Silhavy J; Iannicelli M; Nickerson E; Elkhartoufi N; Scott E; Spencer E; Gabriel S; Thomas S; Ben-Zeev B; Bertini E; Boltshauser E; Chaouch M; Cilio MR; de Jong MM; Kayserili H; Ogur G; Poretti A; Signorini S; Uziel G; Zaki MS; ; Johnson C; Attié-Bitach T; Gleeson JG; Valente EM
Eur J Hum Genet; 2013 Oct; 21(10):1074-8. PubMed ID: 23386033
[TBL] [Abstract][Full Text] [Related]
2. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.
Knopp C; Rudnik-Schöneborn S; Eggermann T; Bergmann C; Begemann M; Schoner K; Zerres K; Ortiz Brüchle N
Mol Cell Probes; 2015 Oct; 29(5):299-307. PubMed ID: 26003401
[TBL] [Abstract][Full Text] [Related]
3. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Romani M; Micalizzi A; Kraoua I; Dotti MT; Cavallin M; Sztriha L; Ruta R; Mancini F; Mazza T; Castellana S; Hanene B; Carluccio MA; Darra F; Máté A; Zimmermann A; Gouider-Khouja N; Valente EM
Orphanet J Rare Dis; 2014 May; 9():72. PubMed ID: 24886560
[TBL] [Abstract][Full Text] [Related]
4. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Roosing S; Romani M; Isrie M; Rosti RO; Micalizzi A; Musaev D; Mazza T; Al-Gazali L; Altunoglu U; Boltshauser E; D'Arrigo S; De Keersmaecker B; Kayserili H; Brandenberger S; Kraoua I; Mark PR; McKanna T; Van Keirsbilck J; Moerman P; Poretti A; Puri R; Van Esch H; Gleeson JG; Valente EM
J Med Genet; 2016 Sep; 53(9):608-15. PubMed ID: 27208211
[TBL] [Abstract][Full Text] [Related]
5. Joubert syndrome and related disorders.
Valente EM; Dallapiccola B; Bertini E
Handb Clin Neurol; 2013; 113():1879-88. PubMed ID: 23622411
[TBL] [Abstract][Full Text] [Related]
6. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
Tsurusaki Y; Kobayashi Y; Hisano M; Ito S; Doi H; Nakashima M; Saitsu H; Matsumoto N; Miyake N
J Hum Genet; 2013 Feb; 58(2):113-5. PubMed ID: 23034536
[TBL] [Abstract][Full Text] [Related]
7. Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
Watson CM; Crinnion LA; Berry IR; Harrison SM; Lascelles C; Antanaviciute A; Charlton RS; Dobbie A; Carr IM; Bonthron DT
BMC Med Genet; 2016 Jan; 17():1. PubMed ID: 26729329
[TBL] [Abstract][Full Text] [Related]
8. MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG; Isabella CR; Kroes HY; Dempsey JC; Gremmels H; Monroe GR; Phelps IG; Duran KJ; Adkins J; Kumar SA; Knutzen DM; Knoers NV; Mendelsohn NJ; Neubauer D; Mastroyianni SD; Vogt J; Worgan L; Karp N; Bowdin S; Glass IA; Parisi MA; Otto EA; Johnson CA; Hildebrandt F; van Haaften G; Giles RH; Doherty D
J Med Genet; 2016 Jan; 53(1):62-72. PubMed ID: 26490104
[TBL] [Abstract][Full Text] [Related]
9. Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with
Stembalska A; Rydzanicz M; Pollak A; Kostrzewa G; Stawinski P; Biela M; Ploski R; Smigiel R
Genes (Basel); 2021 Jul; 12(7):. PubMed ID: 34356094
[TBL] [Abstract][Full Text] [Related]
10. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A; Naushad SM; Lingappa L
Pediatr Neurol; 2020 May; 106():43-49. PubMed ID: 32139166
[TBL] [Abstract][Full Text] [Related]
11. 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 ZA; Wheway G; Szymanska K; Natarajan S; Toomes C; Inglehearn C; Johnson CA
Hum Mol Genet; 2013 Apr; 22(7):1358-72. PubMed ID: 23283079
[TBL] [Abstract][Full Text] [Related]
12. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S; Wright KJ; Le Corre S; Micalizzi A; Romani M; Abhyankar A; Saada J; Perrault I; Amiel J; Litzler J; Filhol E; Elkhartoufi N; Kwong M; Casanova JL; Boddaert N; Baehr W; Lyonnet S; Munnich A; Burglen L; Chassaing N; Encha-Ravazi F; Vekemans M; Gleeson JG; Valente EM; Jackson PK; Drummond IA; Saunier S; Attié-Bitach T
Hum Mutat; 2014 Jan; 35(1):137-46. PubMed ID: 24166846
[TBL] [Abstract][Full Text] [Related]
13. Defective ciliogenesis in INPP5E-related Joubert syndrome.
Hardee I; Soldatos A; Davids M; Vilboux T; Toro C; David KL; Ferreira CR; Nehrebecky M; Snow J; Thurm A; Heller T; Macnamara EF; Gunay-Aygun M; Zein WM; Gahl WA; Malicdan MCV
Am J Med Genet A; 2017 Dec; 173(12):3231-3237. PubMed ID: 29052317
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Bachmann-Gagescu R; Ishak GE; Dempsey JC; Adkins J; O'Day D; Phelps IG; Gunay-Aygun M; Kline AD; Szczaluba K; Martorell L; Alswaid A; Alrasheed S; Pai S; Izatt L; Ronan A; Parisi MA; Mefford H; Glass I; Doherty D
J Med Genet; 2012 Feb; 49(2):126-37. PubMed ID: 22241855
[TBL] [Abstract][Full Text] [Related]
15. Joubert syndrome and related disorders.
Paprocka J; Jamroz E
Neurol Neurochir Pol; 2012; 46(4):379-83. PubMed ID: 23023437
[TBL] [Abstract][Full Text] [Related]
16. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
Maglic D; Stephen J; Malicdan MC; Guo J; Fischer R; Konzman D; ; Mullikin JC; Gahl WA; Vilboux T; Gunay-Aygun M
Hum Mutat; 2016 Nov; 37(11):1144-1148. PubMed ID: 27449316
[TBL] [Abstract][Full Text] [Related]
17. Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
Cevik S; Sanders AA; Van Wijk E; Boldt K; Clarke L; van Reeuwijk J; Hori Y; Horn N; Hetterschijt L; Wdowicz A; Mullins A; Kida K; Kaplan OI; van Beersum SE; Man Wu K; Letteboer SJ; Mans DA; Katada T; Kontani K; Ueffing M; Roepman R; Kremer H; Blacque OE
PLoS Genet; 2013; 9(12):e1003977. PubMed ID: 24339792
[TBL] [Abstract][Full Text] [Related]
18. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Shaheen R; Shamseldin HE; Loucks CM; Seidahmed MZ; Ansari S; Ibrahim Khalil M; Al-Yacoub N; Davis EE; Mola NA; Szymanska K; Herridge W; Chudley AE; Chodirker BN; Schwartzentruber J; Majewski J; Katsanis N; Poizat C; Johnson CA; Parboosingh J; Boycott KM; Innes AM; Alkuraya FS
Am J Hum Genet; 2014 Jan; 94(1):73-9. PubMed ID: 24360803
[TBL] [Abstract][Full Text] [Related]
19. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.
Zhang D; Aravind L
Cell Cycle; 2012 Oct; 11(20):3861-75. PubMed ID: 22983010
[TBL] [Abstract][Full Text] [Related]
20. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
Leightner AC; Hommerding CJ; Peng Y; Salisbury JL; Gainullin VG; Czarnecki PG; Sussman CR; Harris PC
Hum Mol Genet; 2013 May; 22(10):2024-40. PubMed ID: 23393159
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
