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Journal Abstract Search

355 related items for PubMed ID: 24993872

  • 1. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
    Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW.
    JAMA Ophthalmol; 2014 Oct; 132(10):1215-20. PubMed ID: 24993872
    [Abstract] [Full Text] [Related]

  • 2. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
    Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F.
    Eur J Hum Genet; 2007 Jan; 15(1):29-34. PubMed ID: 17033686
    [Abstract] [Full Text] [Related]

  • 3. Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome.
    Das Bhowmik A, Dalal A.
    Gene; 2015 Nov 10; 572(2):303-6. PubMed ID: 26321508
    [Abstract] [Full Text] [Related]

  • 4. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
    Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.
    Clin Exp Ophthalmol; 2015 Mar 10; 43(2):132-8. PubMed ID: 25060287
    [Abstract] [Full Text] [Related]

  • 5. Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
    Mégarbané A, Haddad-Zebouni S, Nabbout R, Khoury AH, Traboulsi EI.
    Am J Med Genet; 1999 Mar 12; 83(2):82-7. PubMed ID: 10190477
    [Abstract] [Full Text] [Related]

  • 6. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.
    Am J Med Genet A; 2016 Nov 12; 170(11):2927-2933. PubMed ID: 27333055
    [Abstract] [Full Text] [Related]

  • 7. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
    Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS.
    Am J Hum Genet; 2013 Mar 07; 92(3):387-91. PubMed ID: 23453665
    [Abstract] [Full Text] [Related]

  • 8. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
    Chassaing N, Ragge N, Plaisancié J, Patat O, Geneviève D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P.
    Am J Med Genet A; 2016 Jul 07; 170(7):1895-8. PubMed ID: 27103084
    [Abstract] [Full Text] [Related]

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  • 10. De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.
    DeYoung C, Guan B, Ullah E, Blain D, Hufnagel RB, Brooks BP.
    Ophthalmic Genet; 2022 Aug 07; 43(4):513-517. PubMed ID: 35318877
    [Abstract] [Full Text] [Related]

  • 11. X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.
    Goldberg MF, McKusick VA.
    Am J Ophthalmol; 1971 May 07; 71(5):1128-33. PubMed ID: 4998085
    [No Abstract] [Full Text] [Related]

  • 12. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
    Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.
    PLoS One; 2014 May 07; 9(11):e112747. PubMed ID: 25392994
    [Abstract] [Full Text] [Related]

  • 13. Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
    Muthusamy B, Selvan LDN, Nguyen TT, Manoj J, Stawiski EW, Jaiswal BS, Wang W, Raja R, Ramprasad VL, Gupta R, Murugan S, Kadandale JS, Prasad TSK, Reddy K, Peterson A, Pandey A, Seshagiri S, Girimaji SC, Gowda H.
    OMICS; 2017 May 07; 21(5):295-303. PubMed ID: 28481730
    [Abstract] [Full Text] [Related]

  • 14. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
    Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK.
    J Med Genet; 2012 Aug 07; 49(8):539-43. PubMed ID: 22889856
    [Abstract] [Full Text] [Related]

  • 15. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
    Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR.
    Circ Cardiovasc Genet; 2016 Apr 07; 9(2):130-5. PubMed ID: 26933038
    [Abstract] [Full Text] [Related]

  • 16. Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
    Somashekar PH, Shukla A, Girisha KM.
    Ophthalmic Genet; 2017 Dec 07; 38(6):533-536. PubMed ID: 28388256
    [Abstract] [Full Text] [Related]

  • 17. Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
    Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A.
    Ophthalmic Genet; 2017 Dec 07; 38(4):371-375. PubMed ID: 27661448
    [Abstract] [Full Text] [Related]

  • 18. A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome.
    Panmontha W, Rerknimitr P, Yeetong P, Srichomthong C, Suphapeetiporn K, Shotelersuk V.
    Dermatology; 2015 Dec 07; 231(1):77-81. PubMed ID: 26044244
    [Abstract] [Full Text] [Related]

  • 19. Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
    Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W.
    BMC Med Genomics; 2023 Sep 25; 16(1):223. PubMed ID: 37749571
    [Abstract] [Full Text] [Related]

  • 20. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
    Roos L, Fang M, Dali C, Jensen H, Christoffersen N, Wu B, Zhang J, Xu R, Harris P, Xu X, Grønskov K, Tümer Z.
    Clin Genet; 2014 Sep 25; 86(3):276-81. PubMed ID: 24024553
    [Abstract] [Full Text] [Related]

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