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Journal Abstract Search

150 related items for PubMed ID: 31240666

  • 21. OCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION.
    Attig A, Trabelsi M, Hizem S, Ben Jemaa L, Maazoul F, Chaouachi S, Mrad R.
    Genet Couns; 2016; 27(3):433-439. PubMed ID: 30204976
    [No Abstract] [Full Text] [Related]

  • 22. Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
    Taşdelen E, Durmaz CD, Karabulut HG.
    Cytogenet Genome Res; 2018; 154(4):181-186. PubMed ID: 29902798
    [Abstract] [Full Text] [Related]

  • 23. Clinical manifestations of oculodentodigital dysplasia.
    Kayalvizhi G, Subramaniyan B, Suganya G.
    J Indian Soc Pedod Prev Dent; 2014; 32(4):350-2. PubMed ID: 25231047
    [Abstract] [Full Text] [Related]

  • 24. Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
    Choi J, Yang A, Song A, Lim M, Kim J, Jang JH, Park KT, Cho S, Jin DK.
    Ann Clin Lab Sci; 2018 Nov; 48(6):776-781. PubMed ID: 30610049
    [Abstract] [Full Text] [Related]

  • 25. Connexin43 Mutant Patient-Derived Induced Pluripotent Stem Cells Exhibit Altered Differentiation Potential.
    Esseltine JL, Shao Q, Brooks C, Sampson J, Betts DH, Séguin CA, Laird DW.
    J Bone Miner Res; 2017 Jun; 32(6):1368-1385. PubMed ID: 28177159
    [Abstract] [Full Text] [Related]

  • 26. Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43.
    Kogame T, Dainichi T, Shimomura Y, Tanioka M, Kabashima K, Miyachi Y.
    J Dermatol; 2014 Dec; 41(12):1095-7. PubMed ID: 25388818
    [Abstract] [Full Text] [Related]

  • 27. Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.
    Michell-Robinson MA, Perrier S, Lucia C, Tran LT, Thiffault I, Köhler W, Bernard G.
    Neurology; 2022 Apr 19; 98(16):675-677. PubMed ID: 35190466
    [No Abstract] [Full Text] [Related]

  • 28. Relative anterior microphthalmos in oculodentodigital dysplasia.
    Orosz O, Fodor M, Balogh I, Losonczy G.
    Indian J Ophthalmol; 2018 Feb 19; 66(2):334-336. PubMed ID: 29380799
    [Abstract] [Full Text] [Related]

  • 29. The severity of mammary gland developmental defects is linked to the overall functional status of Cx43 as revealed by genetically modified mice.
    Stewart MK, Gong XQ, Barr KJ, Bai D, Fishman GI, Laird DW.
    Biochem J; 2013 Jan 15; 449(2):401-13. PubMed ID: 23075222
    [Abstract] [Full Text] [Related]

  • 30. A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
    Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S.
    Clin Genet; 2013 Oct 15; 84(4):378-81. PubMed ID: 23550541
    [Abstract] [Full Text] [Related]

  • 31. A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.
    Porntaveetus T, Srichomthong C, Ohazama A, Suphapeetiporn K, Shotelersuk V.
    Oral Dis; 2017 Sep 15; 23(6):795-800. PubMed ID: 28258662
    [Abstract] [Full Text] [Related]

  • 32. Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.
    Hadjichristou C, Christophidou-Anastasiadou V, Bakopoulou A, Tanteles GA, Loizidou MA, Kyriacou K, Hadjisavvas A, Michalakis K, Pissiotis A, Koidis P.
    Int J Prosthodont; 2017 Sep 15; 30(3):280–285. PubMed ID: 28319210
    [Abstract] [Full Text] [Related]

  • 33. Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia.
    Duchatelet S, Hovnanian A.
    J Invest Dermatol; 2015 Jun 15; 135(6):1475-1478. PubMed ID: 25964267
    [Abstract] [Full Text] [Related]

  • 34. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.
    Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ.
    PLoS One; 2013 Jun 15; 8(8):e73576. PubMed ID: 23951358
    [Abstract] [Full Text] [Related]

  • 35. Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.
    Jamsheer A, Sowińska-Seidler A, Socha M, Stembalska A, Kiraly-Borri C, Latos-Bieleńska A.
    Gene; 2014 Apr 10; 539(1):157-61. PubMed ID: 24508941
    [Abstract] [Full Text] [Related]

  • 36. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
    Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA.
    J Invest Dermatol; 2015 Jun 10; 135(6):1540-1547. PubMed ID: 25398053
    [Abstract] [Full Text] [Related]

  • 37. Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.
    Shao Q, Liu Q, Lorentz R, Gong XQ, Bai D, Shaw GS, Laird DW.
    Mol Biol Cell; 2012 Sep 10; 23(17):3312-21. PubMed ID: 22809623
    [Abstract] [Full Text] [Related]

  • 38. Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family.
    Park DY, Cho SY, Jin DK, Kee C.
    J Glaucoma; 2019 Apr 10; 28(4):357-362. PubMed ID: 30628995
    [Abstract] [Full Text] [Related]

  • 39. Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
    Li X, Xiao X, Li S, Ouyang J, Sun W, Liu X, Zhang Q.
    Mol Vis; 2021 Apr 10; 27():309-322. PubMed ID: 34035645
    [Abstract] [Full Text] [Related]

  • 40. Central nervous system abnormalities in oculodentodigital dysplasia.
    Schrander-Stumpel CT, Franke CL.
    Genet Couns; 1996 Apr 10; 7(3):233-5. PubMed ID: 8897047
    [No Abstract] [Full Text] [Related]

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