BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 24680887)

  • 1. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
    El Shamieh S; Neuillé M; Terray A; Orhan E; Condroyer C; Démontant V; Michiels C; Antonio A; Boyard F; Lancelot ME; Letexier M; Saraiva JP; Léveillard T; Mohand-Saïd S; Goureau O; Sahel JA; Zeitz C; Audo I
    Am J Hum Genet; 2014 Apr; 94(4):625-33. PubMed ID: 24680887
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.
    El Shamieh S; Méjécase C; Bertelli M; Terray A; Michiels C; Condroyer C; Fouquet S; Sadoun M; Clérin E; Liu B; Léveillard T; Goureau O; Sahel JA; Audo I; Zeitz C
    Genes (Basel); 2017 Oct; 8(10):. PubMed ID: 29057815
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Progressive RPE atrophy and photoreceptor death in
    Lin Y; Xu CL; Breazzano MP; Tanaka AJ; Ryu J; Levi SR; Yao K; Sparrow JR; Tsang SH
    Ophthalmic Genet; 2020 Feb; 41(1):26-30. PubMed ID: 32052671
    [No Abstract]   [Full Text] [Related]  

  • 4. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
    Roosing S; Rohrschneider K; Beryozkin A; Sharon D; Weisschuh N; Staller J; Kohl S; Zelinger L; Peters TA; Neveling K; Strom TM; ; van den Born LI; Hoyng CB; Klaver CC; Roepman R; Wissinger B; Banin E; Cremers FP; den Hollander AI
    Am J Hum Genet; 2013 Jul; 93(1):110-7. PubMed ID: 23746546
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
    Roosing S; Lamers IJ; de Vrieze E; van den Born LI; Lambertus S; Arts HH; ; Peters TA; Hoyng CB; Kremer H; Hetterschijt L; Letteboer SJ; van Wijk E; Roepman R; den Hollander AI; Cremers FP
    Am J Hum Genet; 2014 Aug; 95(2):131-42. PubMed ID: 25018096
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
    Corton M; Avila-Fernández A; Campello L; Sánchez M; Benavides B; López-Molina MI; Fernández-Sánchez L; Sánchez-Alcudia R; da Silva LRJ; Reyes N; Martín-Garrido E; Zurita O; Fernández-San José P; Pérez-Carro R; García-García F; Dopazo J; García-Sandoval B; Cuenca N; Ayuso C
    Sci Rep; 2016 Oct; 6():35370. PubMed ID: 27734943
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
    Suga A; Mizota A; Kato M; Kuniyoshi K; Yoshitake K; Sultan W; Yamazaki M; Shimomura Y; Ikeo K; Tsunoda K; Iwata T
    Invest Ophthalmol Vis Sci; 2016 Aug; 57(10):4255-63. PubMed ID: 27548899
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Retinal dystrophy associated with a Kizuna (
    Zhao Y; Coussa RG; DeBenedictis MJM; Traboulsi EI
    Ophthalmic Genet; 2019 Oct; 40(5):455-460. PubMed ID: 31556760
    [No Abstract]   [Full Text] [Related]  

  • 9. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
    Avila-Fernandez A; Perez-Carro R; Corton M; Lopez-Molina MI; Campello L; Garanto A; Fernandez-Sanchez L; Duijkers L; Lopez-Martinez MA; Riveiro-Alvarez R; Da Silva LR; Sanchez-Alcudia R; Martin-Garrido E; Reyes N; Garcia-Garcia F; Dopazo J; Garcia-Sandoval B; Collin RW; Cuenca N; Ayuso C
    Hum Mol Genet; 2015 Jul; 24(14):4037-48. PubMed ID: 25882705
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
    Zeitz C; Navarro J; Azizzadeh Pormehr L; Méjécase C; Neves LM; Letellier C; Condroyer C; Albadri S; Amprou A; Antonio A; Ben-Yacoub T; Wohlschlegel J; Andrieu C; Serafini M; Bianco L; Antropoli A; Nassisi M; El Shamieh S; Chantot-Bastaraud S; Mohand-Saïd S; Smirnov V; Sahel JA; Del Bene F; Audo I
    Genet Med; 2024 Jun; 26(6):101081. PubMed ID: 38293907
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.
    Gustafson K; Duncan JL; Biswas P; Soto-Hermida A; Matsui H; Jakubosky D; Suk J; Telenti A; Frazer KA; Ayyagari R
    Genes (Basel); 2017 Aug; 8(9):. PubMed ID: 28837078
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.
    Li L; Nakaya N; Chavali VR; Ma Z; Jiao X; Sieving PA; Riazuddin S; Tomarev SI; Ayyagari R; Riazuddin SA; Hejtmancik JF
    Am J Hum Genet; 2010 Sep; 87(3):400-9. PubMed ID: 20797688
    [TBL] [Abstract][Full Text] [Related]  

  • 13. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
    Davidson AE; Sergouniotis PI; Mackay DS; Wright GA; Waseem NH; Michaelides M; Holder GE; Robson AG; Moore AT; Plagnol V; Webster AR
    Hum Mutat; 2013 Mar; 34(3):506-14. PubMed ID: 23281133
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Homozygous variants in
    de Bruijn SE; Verbakel SK; de Vrieze E; Kremer H; Cremers FPM; Hoyng CB; van den Born LI; Roosing S
    J Med Genet; 2018 Oct; 55(10):705-712. PubMed ID: 30120214
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF; Jitskii S; Buentello-Volante B; Quevedo-Martinez J; Zenteno JC
    Gene; 2013 Oct; 528(2):178-82. PubMed ID: 23900199
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
    Méjécase C; Laurent-Coriat C; Mayer C; Poch O; Mohand-Saïd S; Prévot C; Antonio A; Boyard F; Condroyer C; Michiels C; Blanchard S; Letexier M; Saraiva JP; Sahel JA; Audo I; Zeitz C
    PLoS One; 2016; 11(12):e0168271. PubMed ID: 27977773
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C; González-Del Pozo M; Vela-Boza A; Santoyo-López J; López-Domingo FJ; Vázquez-Marouschek C; Dopazo J; Borrego S; Antiñolo G
    Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
    Nikopoulos K; Farinelli P; Giangreco B; Tsika C; Royer-Bertrand B; Mbefo MK; Bedoni N; Kjellström U; El Zaoui I; Di Gioia SA; Balzano S; Cisarova K; Messina A; Decembrini S; Plainis S; Blazaki SV; Khan MI; Micheal S; Boldt K; Ueffing M; Moulin AP; Cremers FPM; Roepman R; Arsenijevic Y; Tsilimbaris MK; Andréasson S; Rivolta C
    Am J Hum Genet; 2016 Sep; 99(3):770-776. PubMed ID: 27588451
    [TBL] [Abstract][Full Text] [Related]  

  • 19. WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
    Solaguren-Beascoa M; Bujakowska KM; Méjécase C; Emmenegger L; Orhan E; Neuillé M; Mohand-Saïd S; Condroyer C; Lancelot ME; Michiels C; Demontant V; Antonio A; Letexier M; Saraiva JP; Lonjou C; Carpentier W; Léveillard T; Pierce EA; Dollfus H; Sahel JA; Bhattacharya SS; Audo I; Zeitz C
    Clin Genet; 2021 Feb; 99(2):298-302. PubMed ID: 33124039
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y; Saikia BB; Jiang Z; Zhu X; Liu Y; Huang L; Kim R; Yang Y; Qu C; Hao F; Gong B; Tai Z; Niu L; Yang Z; Sundaresan P; Zhu X
    J Hum Genet; 2015 Oct; 60(10):625-30. PubMed ID: 26246154
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.