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2. EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). Tkemaladze T; Melikishvili G; Kherkheulidze V; Melikishvili A; Davitaia T Georgian Med News; 2017 Jun; (267):100-103. PubMed ID: 28726664 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). Otto EA; Tory K; Attanasio M; Zhou W; Chaki M; Paruchuri Y; Wise EL; Wolf MT; Utsch B; Becker C; Nürnberg G; Nürnberg P; Nayir A; Saunier S; Antignac C; Hildebrandt F J Med Genet; 2009 Oct; 46(10):663-70. PubMed ID: 19508969 [TBL] [Abstract][Full Text] [Related]
5. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. Abdelhamed ZA; Wheway G; Szymanska K; Natarajan S; Toomes C; Inglehearn C; Johnson CA Hum Mol Genet; 2013 Apr; 22(7):1358-72. PubMed ID: 23283079 [TBL] [Abstract][Full Text] [Related]
6. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Brancati F; Iannicelli M; Travaglini L; Mazzotta A; Bertini E; Boltshauser E; D'Arrigo S; Emma F; Fazzi E; Gallizzi R; Gentile M; Loncarevic D; Mejaski-Bosnjak V; Pantaleoni C; Rigoli L; Salpietro CD; Signorini S; Stringini GR; Verloes A; Zabloka D; Dallapiccola B; Gleeson JG; Valente EM; Hum Mutat; 2009 Feb; 30(2):E432-42. PubMed ID: 19058225 [TBL] [Abstract][Full Text] [Related]
7. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Leightner AC; Hommerding CJ; Peng Y; Salisbury JL; Gainullin VG; Czarnecki PG; Sussman CR; Harris PC Hum Mol Genet; 2013 May; 22(10):2024-40. PubMed ID: 23393159 [TBL] [Abstract][Full Text] [Related]
8. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Gorden NT; Arts HH; Parisi MA; Coene KL; Letteboer SJ; van Beersum SE; Mans DA; Hikida A; Eckert M; Knutzen D; Alswaid AF; Ozyurek H; Dibooglu S; Otto EA; Liu Y; Davis EE; Hutter CM; Bammler TK; Farin FM; Dorschner M; Topçu M; Zackai EH; Rosenthal P; Owens KN; Katsanis N; Vincent JB; Hildebrandt F; Rubel EW; Raible DW; Knoers NV; Chance PF; Roepman R; Moens CB; Glass IA; Doherty D Am J Hum Genet; 2008 Nov; 83(5):559-71. PubMed ID: 18950740 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Stayner C; Poole CA; McGlashan SR; Pilanthananond M; Brauning R; Markie D; Lett B; Slobbe L; Chae A; Johnstone AC; Jensen CG; McEwan JC; Dittmer K; Parker K; Wiles A; Blackburne W; Leichter A; Leask M; Pinnapureddy A; Jennings M; Horsfield JA; Walker RJ; Eccles MR Sci Rep; 2017 May; 7(1):1601. PubMed ID: 28487520 [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. 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. A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. Zhang M; Cheng J; Liu A; Wang L; Xiong L; Chen M; Sun Y; Li J; Lu Y; Yuan H; Li Y; Lu Y Int J Clin Exp Pathol; 2015; 8(5):5379-86. PubMed ID: 26191240 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Mougou-Zerelli S; Thomas S; Szenker E; Audollent S; Elkhartoufi N; Babarit C; Romano S; Salomon R; Amiel J; Esculpavit C; Gonzales M; Escudier E; Leheup B; Loget P; Odent S; Roume J; Gérard M; Delezoide AL; Khung S; Patrier S; Cordier MP; Bouvier R; Martinovic J; Gubler MC; Boddaert N; Munnich A; Encha-Razavi F; Valente EM; Saad A; Saunier S; Vekemans M; Attié-Bitach T Hum Mutat; 2009 Nov; 30(11):1574-82. PubMed ID: 19777577 [TBL] [Abstract][Full Text] [Related]
17. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Frank V; den Hollander AI; Brüchle NO; Zonneveld MN; Nürnberg G; Becker C; Du Bois G; Kendziorra H; Roosing S; Senderek J; Nürnberg P; Cremers FP; Zerres K; Bergmann C Hum Mutat; 2008 Jan; 29(1):45-52. PubMed ID: 17705300 [TBL] [Abstract][Full Text] [Related]
18. Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Frank V; Ortiz Brüchle N; Mager S; Frints SG; Bohring A; du Bois G; Debatin I; Seidel H; Senderek J; Besbas N; Todt U; Kubisch C; Grimm T; Teksen F; Balci S; Zerres K; Bergmann C Hum Mutat; 2007 Jun; 28(6):638-9. PubMed ID: 17437276 [TBL] [Abstract][Full Text] [Related]
19. Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans. Lange KI; Tsiropoulou S; Kucharska K; Blacque OE Dis Model Mech; 2021 Jan; 14(1):. PubMed ID: 33234550 [TBL] [Abstract][Full Text] [Related]
20. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Baala L; Audollent S; Martinovic J; Ozilou C; Babron MC; Sivanandamoorthy S; Saunier S; Salomon R; Gonzales M; Rattenberry E; Esculpavit C; Toutain A; Moraine C; Parent P; Marcorelles P; Dauge MC; Roume J; Le Merrer M; Meiner V; Meir K; Menez F; Beaufrère AM; Francannet C; Tantau J; Sinico M; Dumez Y; MacDonald F; Munnich A; Lyonnet S; Gubler MC; Génin E; Johnson CA; Vekemans M; Encha-Razavi F; Attié-Bitach T Am J Hum Genet; 2007 Jul; 81(1):170-9. PubMed ID: 17564974 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]