200 related articles for article (PubMed ID: 36803942)
1. Joubert syndrome: Molecular basis and treatment.
Spahiu L; Behluli E; Grajçevci-Uka V; Liehr T; Temaj G
J Mother Child; 2022 Mar; 26(1):118-123. PubMed ID: 36803942
[TBL] [Abstract][Full Text] [Related]
2. The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.
Parisi MA
Transl Sci Rare Dis; 2019 Jul; 4(1-2):25-49. PubMed ID: 31763177
[TBL] [Abstract][Full Text] [Related]
3. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC; Rusterholz TDS; Latour B; Grout ME; Aldinger KA; Shaheen R; Dempsey JC; Maddirevula S; Cheng YH; Phelps IG; Gesemann M; Goel H; Birk OS; Alanzi T; Rawashdeh R; Khan AO; ; Bamshad MJ; Nickerson DA; Neuhauss SCF; Dobyns WB; Alkuraya FS; Roepman R; Bachmann-Gagescu R; Doherty D
Am J Hum Genet; 2017 Jul; 101(1):23-36. PubMed ID: 28625504
[TBL] [Abstract][Full Text] [Related]
4. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH; Nguyen NT; Ngo VD; Nguyen HN; Ly TTH; Do HD; Huynh MT
BMC Med Genet; 2020 Jan; 21(1):18. PubMed ID: 32000717
[TBL] [Abstract][Full Text] [Related]
5. Joubert syndrome.
Crawford D; Dearmun A
Nurs Child Young People; 2017 Jun; 29(5):15. PubMed ID: 28604212
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.
Matsushita HB; Hiraide T; Hayakawa K; Okano S; Nakashima M; Saitsu H; Kato M
Brain Dev; 2022 Feb; 44(2):161-165. PubMed ID: 34750010
[TBL] [Abstract][Full Text] [Related]
9. Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Forsyth R; Parisi MA; Altintas B; Malicdan MC; Vilboux T; Knoll J; Brooks BP; Zein WM; Gahl WA; Toro C; Gunay-Aygun M
Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):121-130. PubMed ID: 35312150
[TBL] [Abstract][Full Text] [Related]
10. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.
Tuncel G; Kaymakamzade B; Engindereli Y; Temel SG; Ergoren MC
Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34205586
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Tectonic gene mutations in patients with Joubert syndrome.
Huppke P; Wegener E; Böhrer-Rabel H; Bolz HJ; Zoll B; Gärtner J; Bergmann C
Eur J Hum Genet; 2015 May; 23(5):616-20. PubMed ID: 25118024
[TBL] [Abstract][Full Text] [Related]
13. Cognitive, adaptive, and behavioral features in Joubert syndrome.
Bulgheroni S; D'Arrigo S; Signorini S; Briguglio M; Di Sabato ML; Casarano M; Mancini F; Romani M; Alfieri P; Battini R; Zoppello M; Tortorella G; Bertini E; Leuzzi V; Valente EM; Riva D
Am J Med Genet A; 2016 Dec; 170(12):3115-3124. PubMed ID: 27530364
[TBL] [Abstract][Full Text] [Related]
14. Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.
Xiao D; Lv C; Zhang Z; Wu M; Zheng X; Yang L; Li X; Wu G; Chen J
Mol Med Rep; 2017 Jan; 15(1):305-308. PubMed ID: 27959436
[TBL] [Abstract][Full Text] [Related]
15. Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R; Dempsey JC; Bulgheroni S; Chen ML; D'Arrigo S; Glass IA; Heller T; Héon E; Hildebrandt F; Joshi N; Knutzen D; Kroes HY; Mack SH; Nuovo S; Parisi MA; Snow J; Summers AC; Symons JM; Zein WM; Boltshauser E; Sayer JA; Gunay-Aygun M; Valente EM; Doherty D
Am J Med Genet A; 2020 Jan; 182(1):229-249. PubMed ID: 31710777
[TBL] [Abstract][Full Text] [Related]
16. Diagnosis of Joubert syndrome via ultrasonography.
Buke B; Canverenler E; İpek G; Canverenler S; Akkaya H
J Med Ultrason (2001); 2017 Apr; 44(2):197-202. PubMed ID: 27785575
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Dehghani M; Mojarad M; Ghayoor Karimiani E; Vahidi Mehrjardi MY; Sahebalzamani A; Ashrafzadeh F; Beiraghi Toosi M; Eslahi A; Ahangari N; Yassini SM; Hassanbeigi A; Rasti A; Kalantar SM; Maroofian R
Public Health Genomics; 2017; 20(3):188-193. PubMed ID: 28719906
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
Serpieri V; D'Abrusco F; Dempsey JC; Cheng YH; Arrigoni F; Baker J; Battini R; Bertini ES; Borgatti R; Christman AK; Curry C; D'Arrigo S; Fluss J; Freilinger M; Gana S; Ishak GE; Leuzzi V; Loucks H; Manti F; Mendelsohn N; Merlini L; Miller CV; Muhammad A; Nuovo S; Romaniello R; Schmidt W; Signorini S; Siliquini S; Szczałuba K; Vasco G; Wilson M; Zanni G; Boltshauser E; Doherty D; Valente EM;
J Med Genet; 2022 Sep; 59(9):888-894. PubMed ID: 34675124
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]