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Journal Abstract Search

117 related items for PubMed ID: 27144914

  • 21. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
    Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ.
    Hum Mol Genet; 2015 May 01; 24(9):2594-603. PubMed ID: 25616960
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  • 22. Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.
    Huang XF, Huang ZQ, Lin D, Dai ML, Wang QF, Chen ZJ, Jin ZB, Wang Y.
    Sci Rep; 2017 Aug 22; 7(1):9064. PubMed ID: 28831107
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  • 24. Identification of PITX3 mutations in individuals with various ocular developmental defects.
    Zazo Seco C, Plaisancié J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N.
    Ophthalmic Genet; 2018 Jun 22; 39(3):314-320. PubMed ID: 29405783
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  • 26. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
    Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D.
    J Med Genet; 2014 Jul 22; 51(7):460-9. PubMed ID: 24780881
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  • 29. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
    Uzumcu A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H, Tatli B, Geckinli B, Yuksel A, Kayserili H, Basaran S.
    Eur J Med Genet; 2009 Jul 22; 52(5):315-20. PubMed ID: 19460469
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  • 30. Hereditary congenital facial paralysis.
    Nicolai JP, Bos MY, ter Haar BG.
    Scand J Plast Reconstr Surg; 1986 Jul 22; 20(1):37-9. PubMed ID: 3775291
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  • 31. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
    Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA.
    Br J Dermatol; 2015 Jul 22; 172(5):1407-11. PubMed ID: 25308318
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  • 32. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
    Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.
    Am J Hum Genet; 2017 Nov 02; 101(5):789-802. PubMed ID: 29100090
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  • 33. A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
    Zeng H, Tang JG, Yang YF, Tan ZP, Tan JQ.
    Cytogenet Genome Res; 2017 Nov 02; 152(1):16-21. PubMed ID: 28658676
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  • 34. Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies.
    Mohammad SA, Abdelaziz TT, Gadelhak MI, Afifi HH, Abdel-Salam GMH.
    Neuroradiology; 2018 Oct 02; 60(10):1053-1061. PubMed ID: 30074067
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  • 37. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.
    Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM.
    Teratology; 2000 Dec 02; 62(6):393-405. PubMed ID: 11091361
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  • 38. A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.
    Azzarà A, Cassano I, Lintas C, Bernardini L, Pilato F, Capone F, Di Lazzaro V, Gurrieri F.
    Eur J Neurol; 2024 Jan 02; 31(1):e16088. PubMed ID: 37823721
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  • 39. Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.
    Gombosh M, Proskorovski-Ohayon R, Yogev Y, Eskin-Schwartz M, Hadar N, Aharoni S, Dolgin V, Cohen E, Birk OS.
    J Med Genet; 2024 Sep 24; 61(10):959-965. PubMed ID: 39054052
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  • 40. Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.
    Abdel-Salam GMH, Abdel-Hamid MS, Mehrez MI, Kamal AM, Taher MB, Afifi HH.
    Ophthalmic Genet; 2018 Apr 24; 39(2):215-220. PubMed ID: 29140751
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