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Journal Abstract Search

291 related items for PubMed ID: 35675912

  • 1. Digenic Alport Syndrome.
    Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT.
    Clin J Am Soc Nephrol; 2022 Nov; 17(11):1697-1706. PubMed ID: 35675912
    [Abstract] [Full Text] [Related]

  • 2. Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.
    Zhang Y, Ding J, Zhang H, Yao Y, Xiao H, Wang S, Wang F.
    Mol Genet Genomic Med; 2019 May; 7(5):e647. PubMed ID: 30883042
    [Abstract] [Full Text] [Related]

  • 3. Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.
    Choi M, Anistan YM, Eckardt KU, Gollasch M, Nickel P.
    Nephron; 2019 May; 141(3):213-218. PubMed ID: 30661074
    [Abstract] [Full Text] [Related]

  • 4. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
    Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M.
    PLoS One; 2016 May; 11(9):e0161802. PubMed ID: 27627812
    [Abstract] [Full Text] [Related]

  • 5. Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
    Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, Persikov AV, Gale DP, Storey H, Savige J, Genomics England Research Consortium.
    J Am Soc Nephrol; 2021 Sep; 32(9):2273-2290. PubMed ID: 34400539
    [Abstract] [Full Text] [Related]

  • 6. The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.
    Li A, Cui YX, Lv X, Liu JH, Gao EZ, Wei XX, Xia XY, Gao CL, Liu FX, Xia ZK, Asan, Liu ZH, Li XJ.
    Cytogenet Genome Res; 2018 Sep; 154(3):132-136. PubMed ID: 29742505
    [Abstract] [Full Text] [Related]

  • 7. Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.
    Cerkauskaite A, Savige J, Janonyte K, Jeremiciute I, Miglinas M, Kazenaite E, Laurinavicius A, Strupaite-Sileikiene R, Vainutiene V, Burnyte B, Jankauskiene A, Rolfs A, Bauer P, Schröder S, Cerkauskiene R.
    Front Med (Lausanne); 2022 Sep; 9():859521. PubMed ID: 35419377
    [Abstract] [Full Text] [Related]

  • 8. Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.
    Wang D, Pan M, Li H, Li M, Li P, Xiong F, Xiao H.
    BMC Med Genomics; 2024 Jul 08; 17(1):181. PubMed ID: 38978054
    [Abstract] [Full Text] [Related]

  • 9. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
    Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A.
    Kidney Int; 2004 May 08; 65(5):1598-603. PubMed ID: 15086897
    [Abstract] [Full Text] [Related]

  • 10. Evidence of digenic inheritance in Alport syndrome.
    Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A.
    J Med Genet; 2015 Mar 08; 52(3):163-74. PubMed ID: 25575550
    [Abstract] [Full Text] [Related]

  • 11. Guidelines for Genetic Testing and Management of Alport Syndrome.
    Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F.
    Clin J Am Soc Nephrol; 2022 Jan 08; 17(1):143-154. PubMed ID: 34930753
    [Abstract] [Full Text] [Related]

  • 12.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Kashtan CE.
    ; 1993 Jan 08. PubMed ID: 20301386
    [Abstract] [Full Text] [Related]

  • 13. Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.
    Zhao X, Chen C, Wei Y, Zhao G, Liu L, Wang C, Zhang J, Kong X.
    Mol Genet Genomic Med; 2019 Jun 08; 7(6):e653. PubMed ID: 30968591
    [Abstract] [Full Text] [Related]

  • 14. Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.
    Savige J, Harraka P.
    Am J Kidney Dis; 2021 Dec 08; 78(6):857-864. PubMed ID: 34245817
    [Abstract] [Full Text] [Related]

  • 15. Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
    Gibson JT, Huang M, Shenelli Croos Dabrera M, Shukla K, Rothe H, Hilbert P, Deltas C, Storey H, Lipska-Ziętkiewicz BS, Chan MMY, Sadeghi-Alavijeh O, Gale DP, Genomics England Research Consortium, Cerkauskaite A, Savige J.
    Sci Rep; 2022 Feb 17; 12(1):2722. PubMed ID: 35177655
    [Abstract] [Full Text] [Related]

  • 16. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
    Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M.
    Kidney Int; 2002 Jun 17; 61(6):1947-56. PubMed ID: 12028435
    [Abstract] [Full Text] [Related]

  • 17. Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
    Furlano M, Pilco-Teran M, Pybus M, Martínez V, Aza-Carmona M, Rius Peris A, Pérez-Gomez V, Berná G, Mazon J, Hernández J, Fayos de Arizón L, Viera E, Gich I, Pérez HV, Gomá-Garcés E, Albero Dolon JL, Ars E, Torra R.
    Nephrol Dial Transplant; 2024 Aug 30; 39(9):1442-1448. PubMed ID: 38317457
    [Abstract] [Full Text] [Related]

  • 18. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
    Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R.
    Am J Kidney Dis; 2021 Oct 30; 78(4):560-570.e1. PubMed ID: 33838161
    [Abstract] [Full Text] [Related]

  • 19. Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome.
    Inoki Y, Horinouchi T, Yamamura T, Ishimori S, Ichikawa Y, Tanaka Y, Ueda C, Kitakado H, Kondo A, Sakakibara N, Nagano C, Nozu K.
    Kidney360; 2024 Oct 01; 5(10):1510-1517. PubMed ID: 39137047
    [Abstract] [Full Text] [Related]

  • 20. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.
    Buzza M, Wang YY, Dagher H, Babon JJ, Cotton RG, Powell H, Dowling J, Savige J.
    Kidney Int; 2001 Aug 01; 60(2):480-3. PubMed ID: 11473630
    [Abstract] [Full Text] [Related]

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