215 related articles for article (PubMed ID: 32233090)
1. Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
Liu Q; Wang H; Zhao J; Liu Z; Sun D; Yuan A; Luo G; Wei W; Hou M
Int J Dev Neurosci; 2020 Oct; 80(6):455-463. PubMed ID: 32233090
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. A novel variant in C5ORF42 gene is associated with Joubert syndrome.
Mardani R; Taghizadeh E; Taheri F; Raeisi M; Karimzadeh MR; Rostami D; Ferns GA; Ghayour-Mobarhan M
Mol Biol Rep; 2020 May; 47(5):4099-4103. PubMed ID: 32367316
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.
Zhu H; Chen W; Ren H; Zhang Y; Niu Y; Wu D; Jiang L
Eur J Med Genet; 2021 Jun; 64(6):104212. PubMed ID: 33794348
[TBL] [Abstract][Full Text] [Related]
8. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Bayram Y; Aydin H; Gambin T; Akdemir ZC; Atik MM; Karaca E; Karaman A; Pehlivan D; Jhangiani SN; Gibbs RA; Lupski JR
Am J Med Genet A; 2015 Sep; 167A(9):2132-7. PubMed ID: 25846457
[TBL] [Abstract][Full Text] [Related]
9. Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
Enokizono M; Aida N; Niwa T; Osaka H; Naruto T; Kurosawa K; Ohba C; Suzuki T; Saitsu H; Goto T; Matsumoto N
J Neurol Sci; 2017 May; 376():7-12. PubMed ID: 28431631
[TBL] [Abstract][Full Text] [Related]
10. Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Fleming LR; Doherty DA; Parisi MA; Glass IA; Bryant J; Fischer R; Turkbey B; Choyke P; Daryanani K; Vemulapalli M; Mullikin JC; Malicdan MC; Vilboux T; Sayer JA; Gahl WA; Gunay-Aygun M
Clin J Am Soc Nephrol; 2017 Dec; 12(12):1962-1973. PubMed ID: 29146704
[TBL] [Abstract][Full Text] [Related]
11. Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
Koyama S; Sato H; Wada M; Kawanami T; Emi M; Kato T
BMC Med Genet; 2017 Mar; 18(1):37. PubMed ID: 28347285
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Luo M; Cao L; Cao Z; Ma S; Shen Y; Yang D; Lu C; Lin Z; Liu Z; Yu Y; Cai R; Chen C; Gao H; Wang X; Cao M; Ma X
Mol Genet Genomic Med; 2019 Dec; 7(12):e1004. PubMed ID: 31625690
[TBL] [Abstract][Full Text] [Related]
14. [Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing].
Wang H; Jiang W; Dai M; Xiao B; Xu Y; Sun Y; Liu Y; Ying X; Sun Y; Wei W; Ji X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):686-689. PubMed ID: 31302911
[TBL] [Abstract][Full Text] [Related]
15. Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.
Xiang J; Zhang L; Jiang W; Zhang Q; Wang T; Li H; Li H
Biomed Res Int; 2018; 2018():7202168. PubMed ID: 29955609
[TBL] [Abstract][Full Text] [Related]
16. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Srour M; Schwartzentruber J; Hamdan FF; Ospina LH; Patry L; Labuda D; Massicotte C; Dobrzeniecka S; Capo-Chichi JM; Papillon-Cavanagh S; Samuels ME; Boycott KM; Shevell MI; Laframboise R; Désilets V; ; Maranda B; Rouleau GA; Majewski J; Michaud JL
Am J Hum Genet; 2012 Apr; 90(4):693-700. PubMed ID: 22425360
[TBL] [Abstract][Full Text] [Related]
17. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M; Mancini F; Micalizzi A; Poretti A; Miccinilli E; Accorsi P; Avola E; Bertini E; Borgatti R; Romaniello R; Ceylaner S; Coppola G; D'Arrigo S; Giordano L; Janecke AR; Lituania M; Ludwig K; Martorell L; Mazza T; Odent S; Pinelli L; Poo P; Santucci M; Signorini S; Simonati A; Spiegel R; Stanzial F; Steinlin M; Tabarki B; Wolf NI; Zibordi F; Boltshauser E; Valente EM
Hum Genet; 2015 Jan; 134(1):123-6. PubMed ID: 25407461
[TBL] [Abstract][Full Text] [Related]
18. Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T; Miyake N; Tsurusaki Y; Okamoto N; Alkindy A; Inaba A; Sato M; Ito S; Muramatsu K; Kimura S; Ieda D; Saitoh S; Hiyane M; Suzumura H; Yagyu K; Shiraishi H; Nakajima M; Fueki N; Habata Y; Ueda Y; Komatsu Y; Yan K; Shimoda K; Shitara Y; Mizuno S; Ichinomiya K; Sameshima K; Tsuyusaki Y; Kurosawa K; Sakai Y; Haginoya K; Kobayashi Y; Yoshizawa C; Hisano M; Nakashima M; Saitsu H; Takeda S; Matsumoto N
Clin Genet; 2016 Dec; 90(6):526-535. PubMed ID: 27434533
[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. 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]
[Next] [New Search]
