246 related articles for article (PubMed ID: 22693042)
21. Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
Deacon BS; Lowery RS; Phillips PH; Schaefer GB
J AAPOS; 2013 Jun; 17(3):332-3. PubMed ID: 23683649
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. [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]
25. 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]
26. 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]
27. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed SM; Phillips JB; Heller R; Thoenes M; Elsobky E; Nürnberg G; Nürnberg P; Seland S; Ebermann I; Altmüller J; Thiele H; Toliat M; Körber F; Hu XJ; Wu YD; Zaki MS; Abdel-Salam G; Gleeson J; Boltshauser E; Westerfield M; Bolz HJ
Hum Mol Genet; 2015 May; 24(9):2594-603. PubMed ID: 25616960
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. 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]
31. Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases.
Itoh M; Ide S; Iwasaki Y; Saito T; Narita K; Dai H; Yamakura S; Furue T; Kitayama H; Maeda K; Takahashi E; Matsui K; Goto YI; Takeda S; Arima M
Brain Dev; 2018 Apr; 40(4):259-267. PubMed ID: 29217415
[TBL] [Abstract][Full Text] [Related]
32. Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing.
Abdelgadir E; Al Sahlawi M; Al Turki L; Khamees K; Ahmed W
Saudi J Kidney Dis Transpl; 2019; 30(4):964-968. PubMed ID: 31464256
[TBL] [Abstract][Full Text] [Related]
33. Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome.
Wang L; Yang Y; Song J; Mao L; Wei X; Sun Y; Yang S; Mu F; Wang H; Niu Y
J Child Neurol; 2015 May; 30(6):772-6. PubMed ID: 24850569
[TBL] [Abstract][Full Text] [Related]
34. Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).
Rosati J; Altieri F; Tardivo S; Turco EM; Goldoni M; Spasari I; Ferrari D; Bernardini L; Lamorte G; Valente EM; Vescovi AL
Stem Cell Res; 2018 Mar; 27():74-77. PubMed ID: 29334628
[TBL] [Abstract][Full Text] [Related]
35. Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing.
Min X; Fan H; Zhao G; Liu G
Med Sci Monit; 2017 Apr; 23():1719-1724. PubMed ID: 28391287
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. 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]
39. 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]
40. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K; Lacoste T; Burglen L; Morinière V; Boddaert N; Macher MA; Llanas B; Nivet H; Bensman A; Niaudet P; Antignac C; Salomon R; Saunier S
J Am Soc Nephrol; 2007 May; 18(5):1566-75. PubMed ID: 17409309
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
