200 related articles for article (PubMed ID: 34846692)
1. 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]
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. 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.
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]
5. 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]
6. 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]
7. A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Mégarbané A; Hmaimess G; Bizzari S; El-Bazzal L; Al-Ali MT; Stora S; Delague V; El-Hayek S
Eur J Med Genet; 2019 Nov; 62(11):103576. PubMed ID: 30423442
[TBL] [Abstract][Full Text] [Related]
8. Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome.
Patra S; Goyal G; Lone YA; Gupta G
BMJ Case Rep; 2023 May; 16(5):. PubMed ID: 37258045
[TBL] [Abstract][Full Text] [Related]
9. Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
Zhang C; Sun Z; Xu L; Che F; Liu S
Int J Dev Neurosci; 2021 Oct; 81(6):529-538. PubMed ID: 34091942
[TBL] [Abstract][Full Text] [Related]
10. The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S; Yigit G; Li Y; Altmüller J; Büttel HM; Fiedler B; Kretzschmar C; Nürnberg P; Seeger J; Serpieri V; Valente EM; Wollnik B; Boltshauser E; Brockmann K
Orphanet J Rare Dis; 2023 May; 18(1):101. PubMed ID: 37131188
[TBL] [Abstract][Full Text] [Related]
11. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Vilboux T; Doherty DA; Glass IA; Parisi MA; Phelps IG; Cullinane AR; Zein W; Brooks BP; Heller T; Soldatos A; Oden NL; Yildirimli D; Vemulapalli M; Mullikin JC; Nisc Comparative Sequencing Program ; Malicdan MCV; Gahl WA; Gunay-Aygun M
Genet Med; 2017 Aug; 19(8):875-882. PubMed ID: 28125082
[TBL] [Abstract][Full Text] [Related]
12. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Epting D; Senaratne LDS; Ott E; Holmgren A; Sumathipala D; Larsen SM; Wallmeier J; Bracht D; Frikstad KM; Crowley S; Sikiric A; Barøy T; Käsmann-Kellner B; Decker E; Decker C; Bachmann N; Patzke S; Phelps IG; Katsanis N; Giles R; Schmidts M; Zucknick M; Lienkamp SS; Omran H; Davis EE; Doherty D; Strømme P; Frengen E; Bergmann C; Misceo D
Hum Mutat; 2020 Dec; 41(12):2179-2194. PubMed ID: 33131181
[TBL] [Abstract][Full Text] [Related]
13. Case Report: Identification of likely recurrent
Spahiu L; Sayer JA; Behluli E; Liehr T; Temaj G
F1000Res; 2022; 11():388. PubMed ID: 37224330
[No Abstract] [Full Text] [Related]
14. Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants.
Chen C; Gao J; Lv Q; Xu C; Xia Y; Du A
BMC Med Genomics; 2021 Oct; 14(1):242. PubMed ID: 34627237
[TBL] [Abstract][Full Text] [Related]
15. Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A; Babaei M; Saberi M; Golchin N; Khalil Nejad Sani Banaei A; Eshaghkhani Y; Golchehre Z; Keramatipour M
Mol Biol Rep; 2021 Jun; 48(6):5339-5345. PubMed ID: 34191236
[TBL] [Abstract][Full Text] [Related]
16. Novel variants identified in five Chinese families with Joubert Syndrome: a case report.
Fang L; Wang L; Yang L; Xu X; Pei S; Wu D
BMC Med Genomics; 2023 Sep; 16(1):221. PubMed ID: 37735380
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. A case of Joubert syndrome caused by novel compound heterozygous variants in the
Kozina AA; Kanaeva GK; Baryshnikova NV; Ilinskaya AY; Kim AA; Erofeeva AV; Pogodina NA; Gadzhiyeva JP; Surkova EI; Ilinsky VV
J Int Med Res; 2023 Oct; 51(10):3000605231206294. PubMed ID: 37910852
[TBL] [Abstract][Full Text] [Related]
20. Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.
Wang X; Zhang Z; Zhang X; Shen Y; Liu H
Hum Genomics; 2020 Jun; 14(1):26. PubMed ID: 32600475
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
