BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 35312150)

  • 1. 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]  

  • 2. 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]  

  • 3. [Clinical and genetic analyses of Joubert syndrome in children].
    Zhang GY; Zhao YX; Zhao HL; Tang GH; Wang PL; Zhu DN
    Zhongguo Dang Dai Er Ke Za Zhi; 2023 May; 25(5):497-501. PubMed ID: 37272176
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
    Brooks BP; Zein WM; Thompson AH; Mokhtarzadeh M; Doherty DA; Parisi M; Glass IA; Malicdan MC; Vilboux T; Vemulapalli M; Mullikin JC; Gahl WA; Gunay-Aygun M
    Ophthalmology; 2018 Dec; 125(12):1937-1952. PubMed ID: 30055837
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 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. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
    Penon-Portmann M; Eldomery MK; Potocki L; Marafi D; Posey JE; Coban-Akdemir Z; Harel T; Grochowski CM; Loucks H; Devine WP; Van Ziffle J; Doherty D; Lupski JR; Shieh JT
    Am J Med Genet A; 2022 Aug; 188(8):2360-2366. PubMed ID: 35751429
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Joubert syndrome presenting bilateral peroneal neuropathies: A case report.
    Kim HM; Jo HS; Han JY; Choi IS; Song MK; Park HK
    Medicine (Baltimore); 2024 Apr; 103(17):e37987. PubMed ID: 38669389
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. KIAA0586 is Mutated in Joubert Syndrome.
    Bachmann-Gagescu R; Phelps IG; Dempsey JC; Sharma VA; Ishak GE; Boyle EA; Wilson M; Marques Lourenço C; Arslan M; ; Shendure J; Doherty D
    Hum Mutat; 2015 Sep; 36(9):831-5. PubMed ID: 26096313
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
    D'Abrusco F; Arrigoni F; Serpieri V; Romaniello R; Caputi C; Manti F; Jocic-Jakubi B; Lucarelli E; Panzeri E; Bonaglia MC; Chiapparini L; Pichiecchio A; Pinelli L; Righini A; Leuzzi V; Borgatti R; Valente EM
    Cerebellum; 2022 Dec; 21(6):1144-1150. PubMed ID: 34846692
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.
    Knoll J; Altintas B; Gahl WA; Parisi M; Gunay-Aygun M
    Am J Med Genet A; 2022 Mar; 188(3):847-857. PubMed ID: 34951506
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
    Bonnard C; Shboul M; Tonekaboni SH; Ng AYJ; Tohari S; Ghosh K; Lai A; Lim JY; Tan EC; Devisme L; Stichelbout M; Alkindi A; Banu N; Yüksel Z; Ghoumid J; Elkhartoufi N; Boutaud L; Micalizzi A; Brett MS; Venkatesh B; Valente EM; Attié-Bitach T; Reversade B; Kariminejad A
    Eur J Med Genet; 2018 Oct; 61(10):585-595. PubMed ID: 29605658
    [TBL] [Abstract][Full Text] [Related]  

  • 18. AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM.
    Erol S; Demirel N; Bas AY; Ozcan B; Celik IH; Isik DU
    Genet Couns; 2016; 27(3):367-371. PubMed ID: 30204965
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An elusive ciliopathy: Joubert syndrome.
    Canepa C; Burton B; Muhith A
    BMJ Case Rep; 2017 Jun; 2017():. PubMed ID: 28667057
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.