149 related articles for article (PubMed ID: 21670345)
1. Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.
Gabriel LA; Sachdeva R; Marcotty A; Rockwood EJ; Traboulsi EI
Arch Ophthalmol; 2011 Jun; 129(6):781-4. PubMed ID: 21670345
[TBL] [Abstract][Full Text] [Related]
2. The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation.
Churko JM; Kelly JJ; Macdonald A; Lee J; Sampson J; Bai D; Laird DW
Exp Dermatol; 2012 Aug; 21(8):612-8. PubMed ID: 22775996
[TBL] [Abstract][Full Text] [Related]
3. A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.
Vasconcellos JP; Melo MB; Schimiti RB; Bressanim NC; Costa FF; Costa VP
Arch Ophthalmol; 2005 Oct; 123(10):1422-6. PubMed ID: 16219735
[TBL] [Abstract][Full Text] [Related]
4. Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43).
Musa FU; Ratajczak P; Sahu J; Pentlicky S; Fryer A; Richard G; Willoughby CE
Eye (Lond); 2009 Mar; 23(3):549-55. PubMed ID: 18425059
[TBL] [Abstract][Full Text] [Related]
5. 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; 539(1):157-61. PubMed ID: 24508941
[TBL] [Abstract][Full Text] [Related]
6. Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.
van Es RJ; Wittebol-Post D; Beemer FA
Int J Oral Maxillofac Surg; 2007 Sep; 36(9):858-60. PubMed ID: 17509830
[TBL] [Abstract][Full Text] [Related]
7. Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.
Wang Z; Sun L; Wang P; Chen C; Zhang A; Wang W; Ding X
Ophthalmic Genet; 2019 Feb; 40(1):54-59. PubMed ID: 30767687
[TBL] [Abstract][Full Text] [Related]
8. Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia.
Tsui E; Hill KA; Laliberte AM; Paluzzi D; Kisilevsky I; Shao Q; Heathcote JG; Laird DW; Kidder GM; Hutnik CM
Invest Ophthalmol Vis Sci; 2011 Jun; 52(6):3539-47. PubMed ID: 21273537
[TBL] [Abstract][Full Text] [Related]
9. A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation.
Himi M; Fujimaki T; Yokoyama T; Fujiki K; Takizawa T; Murakami A
Jpn J Ophthalmol; 2009 Sep; 53(5):541-5. PubMed ID: 19847613
[TBL] [Abstract][Full Text] [Related]
10. Relative anterior microphthalmos in oculodentodigital dysplasia.
Orosz O; Fodor M; Balogh I; Losonczy G
Indian J Ophthalmol; 2018 Feb; 66(2):334-336. PubMed ID: 29380799
[TBL] [Abstract][Full Text] [Related]
11. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.
Flenniken AM; Osborne LR; Anderson N; Ciliberti N; Fleming C; Gittens JE; Gong XQ; Kelsey LB; Lounsbury C; Moreno L; Nieman BJ; Peterson K; Qu D; Roscoe W; Shao Q; Tong D; Veitch GI; Voronina I; Vukobradovic I; Wood GA; Zhu Y; Zirngibl RA; Aubin JE; Bai D; Bruneau BG; Grynpas M; Henderson JE; Henkelman RM; McKerlie C; Sled JG; Stanford WL; Laird DW; Kidder GM; Adamson SL; Rossant J
Development; 2005 Oct; 132(19):4375-86. PubMed ID: 16155213
[TBL] [Abstract][Full Text] [Related]
12. 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; 23(6):795-800. PubMed ID: 28258662
[TBL] [Abstract][Full Text] [Related]
13. A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.
Jamsheer A; Wisniewska M; Szpak A; Bugaj G; Krawczynski MR; Budny B; Wawrocka A; Latos-Bieleńska A
J Appl Genet; 2009; 50(3):297-9. PubMed ID: 19638688
[TBL] [Abstract][Full Text] [Related]
14. 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; 28(4):357-362. PubMed ID: 30628995
[TBL] [Abstract][Full Text] [Related]
15. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.
Frasson M; Calixto N; Cronemberger S; de Aguiar RA; Leão LL; de Aguiar MJ
Ophthalmic Genet; 2004 Sep; 25(3):227-36. PubMed ID: 15512999
[TBL] [Abstract][Full Text] [Related]
16. Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
Esseltine JL; Shao Q; Huang T; Kelly JJ; Sampson J; Laird DW
Biochem J; 2015 Nov; 472(1):55-69. PubMed ID: 26349540
[TBL] [Abstract][Full Text] [Related]
17. A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.
Vitiello C; D'Adamo P; Gentile F; Vingolo EM; Gasparini P; Banfi S
Am J Med Genet A; 2005 Feb; 133A(1):58-60. PubMed ID: 15637728
[TBL] [Abstract][Full Text] [Related]
18. A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.
de la Parra DR; Zenteno JC
Ophthalmic Genet; 2007 Dec; 28(4):198-202. PubMed ID: 18161618
[TBL] [Abstract][Full Text] [Related]
19. 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
[TBL] [Abstract][Full Text] [Related]
20. Oculodentodigital Dysplasia with a Novel Mutation in
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
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]