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    Results: 1 to 20 of 54

    1.

    Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

    Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H.

    Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7.

    PMID:
    23225343
    [PubMed - indexed for MEDLINE]
    2.

    Recognizable phenotypes associated with intracranial calcification.

    Livingston JH, Stivaros S, van der Knaap MS, Crow YJ.

    Dev Med Child Neurol. 2013 Jan;55(1):46-57. doi: 10.1111/j.1469-8749.2012.04437.x. Epub 2012 Nov 1.

    PMID:
    23121296
    [PubMed - indexed for MEDLINE]
    3.

    De novo copy number variants are associated with congenital diaphragmatic hernia.

    Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK.

    J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135.

    PMID:
    23054247
    [PubMed - indexed for MEDLINE]
    4.

    COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

    Tonduti D, Pichiecchio A, La Piana R, Livingston JH, Doherty DA, Majumdar A, Tomkins S, Mine M, Ceroni M, Ricca I, Balottin U, Orcesi S.

    Neuropediatrics. 2012 Oct;43(5):283-8. doi: 10.1055/s-0032-1325116. Epub 2012 Aug 29.

    PMID:
    22932948
    [PubMed - indexed for MEDLINE]
    5.

    COL4A1 mutation in a pediatric patient presenting with post-ictal hemiparesis.

    Leung M, Lewis E, Humphreys P, Miller E, Geraghty M, Lines M, Sell E.

    Can J Neurol Sci. 2012 Sep;39(5):654-7. No abstract available.

    PMID:
    22931710
    [PubMed - indexed for MEDLINE]
    6.

    COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

    Kuo DS, Labelle-Dumais C, Gould DB.

    Hum Mol Genet. 2012 Oct 15;21(R1):R97-110. Epub 2012 Aug 21. Review.

    PMID:
    22914737
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

    Değerliyurt A, Ceylaner G, Koçak H, Bilginer Gürbüz B, Cihan BS, Rizzu P, Ceylaner S.

    Genet Couns. 2012;23(2):185-93.

    PMID:
    22876576
    [PubMed - indexed for MEDLINE]
    8.

    Hereditary cerebral small vessel diseases: a review.

    Federico A, Di Donato I, Bianchi S, Di Palma C, Taglia I, Dotti MT.

    J Neurol Sci. 2012 Nov 15;322(1-2):25-30. doi: 10.1016/j.jns.2012.07.041. Epub 2012 Aug 4. Review.

    PMID:
    22868088
    [PubMed - indexed for MEDLINE]
    9.

    Childhood presentation of COL4A1 mutations.

    Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P.

    Dev Med Child Neurol. 2012 Jun;54(6):569-74. doi: 10.1111/j.1469-8749.2011.04198.x. Epub 2012 Jan 16. Review.

    PMID:
    22574627
    [PubMed - indexed for MEDLINE]
    10.

    COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

    Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB.

    Ann Neurol. 2012 Apr;71(4):470-7. doi: 10.1002/ana.22682.

    PMID:
    22522439
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood.

    de Vries LS, Mancini GM.

    Ann Neurol. 2012 Apr;71(4):439-41. doi: 10.1002/ana.23544. Epub 2012 Mar 23. No abstract available.

    PMID:
    22447691
    [PubMed - indexed for MEDLINE]
    12.

    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. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.

    PMID:
    22333902
    [PubMed - indexed for MEDLINE]
    13.

    p53 inhibits angiogenesis by inducing the production of Arresten.

    Assadian S, El-Assaad W, Wang XQ, Gannon PO, Barrès V, Latour M, Mes-Masson AM, Saad F, Sado Y, Dostie J, Teodoro JG.

    Cancer Res. 2012 Mar 1;72(5):1270-9. doi: 10.1158/0008-5472.CAN-11-2348. Epub 2012 Jan 17.

    PMID:
    22253229
    [PubMed - indexed for MEDLINE]
    Free Article
    14.

    Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage.

    Lichtenbelt KD, Pistorius LR, De Tollenaer SM, Mancini GM, De Vries LS.

    Ultrasound Obstet Gynecol. 2012 Jun;39(6):726-7. doi: 10.1002/uog.11070. Epub 2012 May 9. No abstract available.

    PMID:
    22223490
    [PubMed - indexed for MEDLINE]
    15.

    COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

    Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB.

    Am J Hum Genet. 2012 Jan 13;90(1):91-101. doi: 10.1016/j.ajhg.2011.11.022. Epub 2011 Dec 29.

    PMID:
    22209247
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    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 13;90(1):86-90. doi: 10.1016/j.ajhg.2011.11.016. Epub 2011 Dec 29.

    PMID:
    22209246
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.

    O'Donnell CJ, Kavousi M, Smith AV, Kardia SL, Feitosa MF, Hwang SJ, Sun YV, Province MA, Aspelund T, Dehghan A, Hoffmann U, Bielak LF, Zhang Q, Eiriksdottir G, van Duijn CM, Fox CS, de Andrade M, Kraja AT, Sigurdsson S, Elias-Smale SE, Murabito JM, Launer LJ, van der Lugt A, Kathiresan S; CARDIoGRAM Consortium, Krestin GP, Herrington DM, Howard TD, Liu Y, Post W, Mitchell BD, O'Connell JR, Shen H, Shuldiner AR, Altshuler D, Elosua R, Salomaa V, Schwartz SM, Siscovick DS, Voight BF, Bis JC, Glazer NL, Psaty BM, Boerwinkle E, Heiss G, Blankenberg S, Zeller T, Wild PS, Schnabel RB, Schillert A, Ziegler A, Münzel TF, White CC, Rotter JI, Nalls M, Oudkerk M, Johnson AD, Newman AB, Uitterlinden AG, Massaro JM, Cunningham J, Harris TB, Hofman A, Peyser PA, Borecki IB, Cupples LA, Gudnason V, Witteman JC.

    Circulation. 2011 Dec 20;124(25):2855-64. doi: 10.1161/CIRCULATIONAHA.110.974899. Epub 2011 Dec 5.

    PMID:
    22144573
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

    Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y.

    Neuropediatrics. 2011 Dec;42(6):227-33. doi: 10.1055/s-0031-1295493. Epub 2011 Dec 1.

    PMID:
    22134833
    [PubMed - indexed for MEDLINE]
    19.

    Atypical timing and presentation of periventricular haemorrhagic infarction in preterm infants: the role of thrombophilia.

    Harteman JC, Groenendaal F, van Haastert IC, Liem KD, Stroink H, Bierings MB, Huisman A, de Vries LS.

    Dev Med Child Neurol. 2012 Feb;54(2):140-7. doi: 10.1111/j.1469-8749.2011.04135.x. Epub 2011 Nov 18.

    PMID:
    22098125
    [PubMed - indexed for MEDLINE]
    20.

    A gene signature in histologically normal surgical margins is predictive of oral carcinoma recurrence.

    Reis PP, Waldron L, Perez-Ordonez B, Pintilie M, Galloni NN, Xuan Y, Cervigne NK, Warner GC, Makitie AA, Simpson C, Goldstein D, Brown D, Gilbert R, Gullane P, Irish J, Jurisica I, Kamel-Reid S.

    BMC Cancer. 2011 Oct 11;11:437. doi: 10.1186/1471-2407-11-437.

    PMID:
    21989116
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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