BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 35362211)

  • 41. Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
    Silveira KC; Moreno CA; Cavalcanti DP
    Am J Med Genet A; 2017 May; 173(5):1186-1189. PubMed ID: 28370949
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Expanding the Phenotype of the
    Siegert S; Mindler GT; Brücke C; Kranzl A; Patsch J; Ritter M; Janecke AR; Vodopiutz J
    Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828254
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
    Peña-Padilla C; Marshall CR; Walker S; Scherer SW; Tavares-Macías G; Razo-Jiménez G; Bobadilla-Morales L; Acosta-Fernández E; Corona-Rivera A; Mendoza-Londono R; Corona-Rivera JR
    Clin Genet; 2017 Apr; 91(4):640-646. PubMed ID: 27874174
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.
    Getwan M; Hoppmann A; Schlosser P; Grand K; Song W; Diehl R; Schroda S; Heeg F; Deutsch K; Hildebrandt F; Lausch E; Köttgen A; Lienkamp SS
    Proc Natl Acad Sci U S A; 2021 Sep; 118(39):. PubMed ID: 34548398
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A Compound Heterozygous Mutation in the Ciliary Gene
    Abo El Fotoh WMM; Al-Fiky AF
    J Pediatr Genet; 2020 Sep; 9(3):198-202. PubMed ID: 32714622
    [TBL] [Abstract][Full Text] [Related]  

  • 46. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.
    Bacino CA; Dhar SU; Brunetti-Pierri N; Lee B; Bonnen PE
    Am J Med Genet A; 2012 Nov; 158A(11):2917-24. PubMed ID: 22987818
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
    Sharova M; Markova T; Sumina M; Petukhova M; Bulakh M; Ryzhkova O; Nagornova T; Ionova S; Marakhonov A; Dadali E; Kutsev S
    Genes (Basel); 2023 Jul; 14(8):. PubMed ID: 37628605
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.
    Tuncel G; Kaymakamzade B; Engindereli Y; Temel SG; Ergoren MC
    Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34205586
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Identical
    Walczak-Sztulpa J; Wawrocka A; Doornbos C; van Beek R; Sowińska-Seidler A; Jamsheer A; Bukowska-Olech E; Latos-Bieleńska A; Grenda R; Bongers EMHF; Schmidts M; Obersztyn E; Krawczyński MR; Oud MM
    Front Genet; 2022; 13():931822. PubMed ID: 35873489
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
    Jaron R; Rosenfeld N; Zahdeh F; Carmi S; Beni-Adani L; Doviner V; Picard E; Segel R; Zeligson S; Carmel L; Renbaum P; Levy-Lahad E
    Clin Genet; 2016 Dec; 90(6):540-544. PubMed ID: 26925547
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
    Girisha KM; Shukla A; Trujillano D; Bhavani GS; Hebbar M; Kadavigere R; Rolfs A
    Clin Genet; 2016 Dec; 90(6):536-539. PubMed ID: 26880018
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
    Best S; Yu J; Lord J; Roche M; Watson CM; Bevers RPJ; Stuckey A; Madhusudhan S; Jewell R; Sisodiya SM; Lin S; Turner S; Robinson H; Leslie JS; Baple E; ; Toomes C; Inglehearn C; Wheway G; Johnson CA
    J Med Genet; 2022 Dec; 59(12):1151-1164. PubMed ID: 35764379
    [TBL] [Abstract][Full Text] [Related]  

  • 54. IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.
    Moran J; G Sanderson K; Maynes J; Vig A; Batmanabane V; Kannu P; Tavares E; Vincent A; Héon E
    Clin Genet; 2018 Oct; 94(3-4):368-372. PubMed ID: 29923190
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
    Harris SC; Chong K; Chitayat D; Gilmore KL; Jorge AAL; Freire BL; Lerario A; Shannon P; Cope H; Gallentine WB; Le Guyader G; Bilan F; Létard P; Davis EE; Vora NL
    Am J Med Genet A; 2023 May; 191(5):1282-1292. PubMed ID: 36826837
    [TBL] [Abstract][Full Text] [Related]  

  • 56. [Ciliopathies].
    Gerth-Kahlert C; Koller S
    Klin Monbl Augenheilkd; 2018 Mar; 235(3):264-272. PubMed ID: 29534263
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
    Geoffroy V; Stoetzel C; Scheidecker S; Schaefer E; Perrault I; Bär S; Kröll A; Delbarre M; Antin M; Leuvrey AS; Henry C; Blanché H; Decker E; Kloth K; Klaus G; Mache C; Martin-Coignard D; McGinn S; Boland A; Deleuze JF; Friant S; Saunier S; Rozet JM; Bergmann C; Dollfus H; Muller J
    Hum Mutat; 2018 Jul; 39(7):983-992. PubMed ID: 29688594
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
    Thevenon J; Duplomb L; Phadke S; Eguether T; Saunier A; Avila M; Carmignac V; Bruel AL; St-Onge J; Duffourd Y; Pazour GJ; Franco B; Attie-Bitach T; Masurel-Paulet A; Rivière JB; Cormier-Daire V; Philippe C; Faivre L; Thauvin-Robinet C
    Clin Genet; 2016 Dec; 90(6):509-517. PubMed ID: 27060890
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.
    Hurd TW; Otto EA; Mishima E; Gee HY; Inoue H; Inazu M; Yamada H; Halbritter J; Seki G; Konishi M; Zhou W; Yamane T; Murakami S; Caridi G; Ghiggeri G; Abe T; Hildebrandt F
    J Am Soc Nephrol; 2013 May; 24(6):967-77. PubMed ID: 23661805
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
    ; Khan S; Ullah I; Nasir A; Meijer CA; Laurense-Bik M; den Dunnen JT; Ruivenkamp CA; Hoffer MJ; Santen GW; Ahmad W
    Am J Med Genet A; 2016 Dec; 170(12):3289-3293. PubMed ID: 27570071
    [TBL] [Abstract][Full Text] [Related]  

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