BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

102 related articles for article (PubMed ID: 28542708)

  • 1. Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.
    McGovern M; Flanagan O; Lynch B; Lynch SA; Allen NM
    Clin Genet; 2017 Oct; 92(4):447-448. PubMed ID: 28542708
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
    Ha TT; Sadleir LG; Mandelstam SA; Paterson SJ; Scheffer IE; Gecz J; Corbett MA
    Am J Med Genet A; 2016 Apr; 170A(4):1059-63. PubMed ID: 26708157
    [TBL] [Abstract][Full Text] [Related]  

  • 3. COL4A2 mutation associated with familial porencephaly and small-vessel disease.
    Verbeek E; Meuwissen ME; Verheijen FW; Govaert PP; Licht DJ; Kuo DS; Poulton CJ; Schot R; Lequin MH; Dudink J; Halley DJ; de Coo RI; den Hollander JC; Oegema R; Gould DB; Mancini GM
    Eur J Hum Genet; 2012 Aug; 20(8):844-51. PubMed ID: 22333902
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
    Meuwissen ME; Halley DJ; Smit LS; Lequin MH; Cobben JM; de Coo R; van Harssel J; Sallevelt S; Woldringh G; van der Knaap MS; de Vries LS; Mancini GM
    Genet Med; 2015 Nov; 17(11):843-53. PubMed ID: 25719457
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.
    Maurice P; Guilbaud L; Garel J; Mine M; Dugas A; Friszer S; Maisonneuve E; Moutard ML; Coste T; Héron D; Tournier-Lasserve E; Garel C; Jouannic JM
    Ultrasound Obstet Gynecol; 2021 May; 57(5):783-789. PubMed ID: 32515830
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.
    Burns A; Hug J
    BMJ Case Rep; 2024 Feb; 17(2):. PubMed ID: 38355202
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.
    Jeanne M; Jorgensen J; Gould DB
    Circulation; 2015 May; 131(18):1555-65. PubMed ID: 25753534
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
    Yoneda Y; Haginoya K; Arai H; Yamaoka S; Tsurusaki Y; Doi H; Miyake N; Yokochi K; Osaka H; Kato M; Matsumoto N; Saitsu H
    Am J Hum Genet; 2012 Jan; 90(1):86-90. PubMed ID: 22209246
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.
    Nicita F; Aiello C; Carboni A; Longo D; Bertini E; Travaglini L
    Clin Neurol Neurosurg; 2023 Feb; 225():107584. PubMed ID: 36603335
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
    Murray LS; Lu Y; Taggart A; Van Regemorter N; Vilain C; Abramowicz M; Kadler KE; Van Agtmael T
    Hum Mol Genet; 2014 Jan; 23(2):283-92. PubMed ID: 24001601
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Further refinement of COL4A1 and COL4A2 related cortical malformations.
    Cavallin M; Mine M; Philbert M; Boddaert N; Lepage JM; Coste T; Lopez-Gonzalez V; Sanchez-Soler MJ; Ballesta-Martínez MJ; Remerand G; Pasquier L; Guët A; Chelly J; Lascelles K; Prieto-Morin C; Kossorotoff M; Tournier Lasserve E; Bahi-Buisson N
    Eur J Med Genet; 2018 Dec; 61(12):765-772. PubMed ID: 30315939
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.
    Brock S; Michotte A; Doné E; Leus A; Cannie M; De Pierre K; Forsyth R; Stouffs K; Keymolen K; Dimitrov B; Fieuw A; Jansen AC; Van Berkel K
    J Neuropathol Exp Neurol; 2021 Sep; 80(8):807-810. PubMed ID: 33846711
    [No Abstract]   [Full Text] [Related]  

  • 13. Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.
    Takenouchi T; Ohyagi M; Torii C; Kosaki R; Takahashi T; Kosaki K
    Am J Med Genet A; 2015 Jan; 167A(1):156-8. PubMed ID: 25425218
    [TBL] [Abstract][Full Text] [Related]  

  • 14. COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective.
    Nau S; McCourt EA; Maloney JA; Van Hove JL; Saenz M; Jung JL
    J AAPOS; 2019 Aug; 23(4):246-248. PubMed ID: 31128271
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.
    Hausman-Kedem M; Ben-Sira L; Kidron D; Ben-Shachar S; Straussberg R; Marom D; Ponger P; Bar-Shira A; Malinger G; Fattal-Valevski A
    Eur J Hum Genet; 2021 Nov; 29(11):1654-1662. PubMed ID: 33837277
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
    Karolak JA; Kulinska K; Nowak DM; Pitarque JA; Molinari A; Rydzanicz M; Bejjani BA; Gajecka M
    Mol Vis; 2011 Mar; 17():827-43. PubMed ID: 21527998
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.
    Favor J; Gloeckner CJ; Janik D; Klempt M; Neuhäuser-Klaus A; Pretsch W; Schmahl W; Quintanilla-Fend L
    Genetics; 2007 Feb; 175(2):725-36. PubMed ID: 17179069
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.
    Coste T; Aloui C; Petit F; Moutton S; Devisme L; Wells CF; Leboucq N; Verpillat P; Yvert M; Rivier F; Tournier-Lasserve E
    Ultrasound Obstet Gynecol; 2022 Dec; 60(6):805-811. PubMed ID: 35943828
    [TBL] [Abstract][Full Text] [Related]  

  • 19. COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.
    Gunda B; Mine M; Kovács T; Hornyák C; Bereczki D; Várallyay G; Rudas G; Audrezet MP; Tournier-Lasserve E
    J Neurol; 2014 Mar; 261(3):500-3. PubMed ID: 24390199
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
    Giorgio E; Vaula G; Bosco G; Giacone S; Mancini C; Calcia A; Cavalieri S; Di Gregorio E; Rigault De Longrais R; Leombruni S; Pinessi L; Cerrato P; Brusco A; Brussino A
    J Neurol Sci; 2015 May; 352(1-2):99-104. PubMed ID: 25873210
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.