411 related articles for article (PubMed ID: 18660473)
1. Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family.
Amador C; Mathews AM; Del Carmen Montoya M; Laughridge ME; Everman DB; Holden KR
J Child Neurol; 2008 Aug; 23(8):901-5. PubMed ID: 18660473
[TBL] [Abstract][Full Text] [Related]
2. 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; 84(4):378-81. PubMed ID: 23550541
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic variability of oculodentodigital dysplasia.
Wiest T; Herrmann O; Stögbauer F; Grasshoff U; Enders H; Koch MJ; Grond-Ginsbach C; Schwaninger M
Clin Genet; 2006 Jul; 70(1):71-2. PubMed ID: 16813608
[No Abstract] [Full Text] [Related]
4. 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]
5. Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.
Alao MJ; Bonneau D; Holder-Espinasse M; Goizet C; Manouvrier-Hanu S; Mezel A; Petit F; Subtil D; Magdelaine C; Lacombe D
Eur J Med Genet; 2010; 53(1):19-22. PubMed ID: 19808103
[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. 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]
8. 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]
9. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
Debeer P; Van Esch H; Huysmans C; Pijkels E; De Smet L; Van de Ven W; Devriendt K; Fryns JP
Eur J Med Genet; 2005; 48(4):377-87. PubMed ID: 16378922
[TBL] [Abstract][Full Text] [Related]
10. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.
Shibayama J; Paznekas W; Seki A; Taffet S; Jabs EW; Delmar M; Musa H
Circ Res; 2005 May; 96(10):e83-91. PubMed ID: 15879313
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families.
Dwarakanathan A; Bhat M; Gn S; Shetty S
Clin Dysmorphol; 2015 Oct; 24(4):159-62. PubMed ID: 26087145
[No Abstract] [Full Text] [Related]
13. [Genetic study of a pedigree affected with oculodentodigital dysplasia].
Gu L; Zhu Y; Zhu X; Li J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1191-1194. PubMed ID: 31813145
[TBL] [Abstract][Full Text] [Related]
14. Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene.
Hayashi R; Bito T; Taniguchi-Ikeda M; Farooq M; Ito M; Shimomura Y
J Dermatol; 2014 Dec; 41(12):1109-10. PubMed ID: 25327171
[No Abstract] [Full Text] [Related]
15. Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis.
Taki T; Takeichi T; Sugiura K; Akiyama M
Acta Derm Venereol; 2019 Dec; 99(13):1307-1308. PubMed ID: 31386161
[No Abstract] [Full Text] [Related]
16. 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]
17. 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]
18. Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.
Tumminelli G; Di Donato I; Guida V; Rufa A; De Luca A; Federico A
J Alzheimers Dis; 2016; 49(1):27-30. PubMed ID: 26444782
[TBL] [Abstract][Full Text] [Related]
19. 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; 8(8):e73576. PubMed ID: 23951358
[TBL] [Abstract][Full Text] [Related]
20. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
Izumi K; Lippa AM; Wilkens A; Feret HA; McDonald-McGinn DM; Zackai EH
Am J Med Genet A; 2013 Dec; 161A(12):3150-4. PubMed ID: 24115525
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]