BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 35362211)

  • 21. Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
    Devlin LA; Coles J; Jackson CL; Barroso-Gil M; Green B; Walker WT; Thomas NS; Thompson J; Rock SA; Neatu R; Powell L; Molinari E; ; Wilson IJ; Cordell HJ; Olinger E; Miles CG; Sayer JA; Wheway G; Lucas JS
    Clin Genet; 2023 Mar; 103(3):330-334. PubMed ID: 36273371
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Ciliopathies and the Kidney: A Review.
    McConnachie DJ; Stow JL; Mallett AJ
    Am J Kidney Dis; 2021 Mar; 77(3):410-419. PubMed ID: 33039432
    [TBL] [Abstract][Full Text] [Related]  

  • 23. BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
    Khan S; Lin S; Harlalka GV; Ullah A; Shah K; Khalid S; Mehmood S; Hassan MJ; Ahmad W; Self JE; Crosby AH; Baple EL; Gul A
    Ann Hum Genet; 2019 Nov; 83(6):477-482. PubMed ID: 31173343
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
    Yamamura T; Morisada N; Nozu K; Minamikawa S; Ishimori S; Toyoshima D; Ninchoji T; Yasui M; Taniguchi-Ikeda M; Morioka I; Nakanishi K; Nishio H; Iijima K
    Clin Exp Nephrol; 2017 Feb; 21(1):136-142. PubMed ID: 26968886
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
    Antony D; Nampoory N; Bacchelli C; Melhem M; Wu K; James CT; Beales PL; Hubank M; Thomas D; Mashankar A; Behbehani K; Schmidts M; Alsmadi O
    Eur J Med Genet; 2017 Dec; 60(12):658-666. PubMed ID: 28870638
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
    Sakakibara N; Nozu K; Yamamura T; Horinouchi T; Nagano C; Ye MJ; Ishiko S; Aoto Y; Rossanti R; Hamada R; Okamoto N; Shima Y; Nakanishi K; Matsuo M; Iijima K; Morisada N
    J Hum Genet; 2022 Jul; 67(7):427-440. PubMed ID: 35140360
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
    Zhang X; You Y; Xie X; Xu H; Zhou H; Lei Y; Sun P; Meng Y; Wang L; Lu Y
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1524. PubMed ID: 33030252
    [TBL] [Abstract][Full Text] [Related]  

  • 28. IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.
    Chen X; Wang X; Jiang C; Xu M; Liu Y; Qi R; Qi X; Sun X; Xie P; Liu Q; Yan B; Sheng X; Zhao C
    Invest Ophthalmol Vis Sci; 2018 Sep; 59(11):4581-4589. PubMed ID: 30242358
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
    Córdova-Fletes C; Becerra-Solano LE; Rangel-Sosa MM; Rivas-Estilla AM; Alberto Galán-Huerta K; Ortiz-López R; Rojas-Martínez A; Juárez-Vázquez CI; García-Ortiz JE
    Eur J Med Genet; 2018 Mar; 61(3):161-167. PubMed ID: 29174089
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.
    Faudi E; Brischoux-Boucher E; Huber C; Dabudyk T; Lenoir M; Baujat G; Michot C; Van Maldergem L; Cormier-Daire V; Piard J
    Eur J Med Genet; 2020 Apr; 63(4):103823. PubMed ID: 31816441
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
    Ashraf T; Vaina C; Giri D; Burren CP; James M; Offiah AC; Overton T; Baptista J; Ellard S; Smithson SF
    Am J Med Genet A; 2020 Oct; 182(10):2403-2408. PubMed ID: 32783357
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
    Choi YJ; Halbritter J; Braun DA; Schueler M; Schapiro D; Rim JH; Nandadasa S; Choi WI; Widmeier E; Shril S; Körber F; Sethi SK; Lifton RP; Beck BB; Apte SS; Gee HY; Hildebrandt F
    Am J Hum Genet; 2019 Jan; 104(1):45-54. PubMed ID: 30609407
    [TBL] [Abstract][Full Text] [Related]  

  • 33. IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.
    Montolío-Marzo S; Català-Mora J; Madrid-Aris Á; Armstrong J; Díaz-Carcajosa J; Carreras E
    Eur J Med Genet; 2020 Dec; 63(12):104073. PubMed ID: 33002628
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.
    Castro-Sánchez S; Álvarez-Satta M; Tohamy MA; Beltran S; Derdak S; Valverde D
    PLoS One; 2017; 12(8):e0183081. PubMed ID: 28800606
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Characterizing the morbid genome of ciliopathies.
    Shaheen R; Szymanska K; Basu B; Patel N; Ewida N; Faqeih E; Al Hashem A; Derar N; Alsharif H; Aldahmesh MA; Alazami AM; Hashem M; Ibrahim N; Abdulwahab FM; Sonbul R; Alkuraya H; Alnemer M; Al Tala S; Al-Husain M; Morsy H; Seidahmed MZ; Meriki N; Al-Owain M; AlShahwan S; Tabarki B; Salih MA; ; Faquih T; El-Kalioby M; Ueffing M; Boldt K; Logan CV; Parry DA; Al Tassan N; Monies D; Megarbane A; Abouelhoda M; Halees A; Johnson CA; Alkuraya FS
    Genome Biol; 2016 Nov; 17(1):242. PubMed ID: 27894351
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.
    David O; Eskin-Schwartz M; Ling G; Dolgin V; Kristal E; Benkowitz E; Osyntsov L; Gradstein L; Birk OS; Loewenthal N; Yerushalmi B
    Clin Genet; 2020 Sep; 98(3):303-307. PubMed ID: 32617964
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.
    Shaheen R; Alsahli S; Ewida N; Alzahrani F; Shamseldin HE; Patel N; Al Qahtani A; Alhebbi H; Alhashem A; Al-Sheddi T; Alomar R; Alobeid E; Abouelhoda M; Monies D; Al-Hussaini A; Alzouman MA; Shagrani M; Faqeih E; Alkuraya FS
    Hepatology; 2020 Jun; 71(6):2067-2079. PubMed ID: 31595528
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
    Quélin C; Loget P; Boutaud L; Elkhartoufi N; Milon J; Odent S; Fradin M; Demurger F; Pasquier L; Thomas S; Attié-Bitach T
    Am J Med Genet A; 2018 Jul; 176(7):1610-1613. PubMed ID: 29704304
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.