BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

265 related articles for article (PubMed ID: 34191236)

  • 21. 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]  

  • 22. 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]  

  • 23. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
    Srour M; Hamdan FF; McKnight D; Davis E; Mandel H; Schwartzentruber J; Martin B; Patry L; Nassif C; Dionne-Laporte A; Ospina LH; Lemyre E; Massicotte C; Laframboise R; Maranda B; Labuda D; Décarie JC; Rypens F; Goldsher D; Fallet-Bianco C; Soucy JF; Laberge AM; Maftei C; ; Boycott K; Brais B; Boucher RM; Rouleau GA; Katsanis N; Majewski J; Elpeleg O; Kukolich MK; Shalev S; Michaud JL
    Am J Hum Genet; 2015 Nov; 97(5):744-53. PubMed ID: 26477546
    [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. Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement.
    Bourgeois JR; Ferland RJ
    Dev Biol; 2019 Apr; 448(1):36-47. PubMed ID: 30695685
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
    Thomas S; Wright KJ; Le Corre S; Micalizzi A; Romani M; Abhyankar A; Saada J; Perrault I; Amiel J; Litzler J; Filhol E; Elkhartoufi N; Kwong M; Casanova JL; Boddaert N; Baehr W; Lyonnet S; Munnich A; Burglen L; Chassaing N; Encha-Ravazi F; Vekemans M; Gleeson JG; Valente EM; Jackson PK; Drummond IA; Saunier S; Attié-Bitach T
    Hum Mutat; 2014 Jan; 35(1):137-46. PubMed ID: 24166846
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Defective ciliogenesis in INPP5E-related Joubert syndrome.
    Hardee I; Soldatos A; Davids M; Vilboux T; Toro C; David KL; Ferreira CR; Nehrebecky M; Snow J; Thurm A; Heller T; Macnamara EF; Gunay-Aygun M; Zein WM; Gahl WA; Malicdan MCV
    Am J Med Genet A; 2017 Dec; 173(12):3231-3237. PubMed ID: 29052317
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Molecular characterization of Joubert syndrome in Saudi Arabia.
    Alazami AM; Alshammari MJ; Salih MA; Alzahrani F; Hijazi H; Seidahmed MZ; Abu Safieh L; Aldosary M; Khan AO; Alkuraya FS
    Hum Mutat; 2012 Oct; 33(10):1423-8. PubMed ID: 22693042
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Joubert syndrome: genotyping a Northern European patient cohort.
    Kroes HY; Monroe GR; van der Zwaag B; Duran KJ; de Kovel CG; van Roosmalen MJ; Harakalova M; Nijman IJ; Kloosterman WP; Giles RH; Knoers NV; van Haaften G
    Eur J Hum Genet; 2016 Feb; 24(2):214-20. PubMed ID: 25920555
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway.
    Hsiao YC; Muñoz-Estrada J; Tuz K; Ferland RJ
    J Neurosci; 2021 Apr; 41(17):3932-3943. PubMed ID: 33741721
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].
    Su Y; Xie J; Yu S; Luo H; Wu W; Xu Z
    Zhonghua Er Ke Za Zhi; 2015 Jun; 53(6):431-5. PubMed ID: 26310553
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Missense mutations in the WD40 domain of
    Nguyen TT; Hull S; Roepman R; van den Born LI; Oud MM; de Vrieze E; Hetterschijt L; Letteboer SJF; van Beersum SEC; Blokland EA; Yntema HG; Cremers FPM; van der Zwaag PA; Arno G; van Wijk E; Webster AR; Haer-Wigman L
    J Med Genet; 2017 Sep; 54(9):624-632. PubMed ID: 28442542
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
    Shen Y; Wang H; Liu Z; Luo M; Ma S; Lu C; Cao Z; Yu Y; Cai R; Chen C; Li Q; Gao H; Peng Y; Xu B; Ma X
    BMC Med Genet; 2020 Oct; 21(1):192. PubMed ID: 33004012
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
    Roosing S; Rosti RO; Rosti B; de Vrieze E; Silhavy JL; van Wijk E; Wakeling E; Gleeson JG
    Hum Genet; 2016 Aug; 135(8):919-921. PubMed ID: 27245168
    [TBL] [Abstract][Full Text] [Related]  

  • 40. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
    Bader I; Decker E; Mayr JA; Lunzer V; Koch J; Boltshauser E; Sperl W; Pietsch P; Ertl-Wagner B; Bolz H; Bergmann C; Rittinger O
    Eur J Med Genet; 2016 Aug; 59(8):386-91. PubMed ID: 27377014
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.