Literature DB >> 16813608

Clinical and genetic variability of oculodentodigital dysplasia.

T Wiest, O Herrmann, F Stögbauer, U Grasshoff, H Enders, M J Koch, C Grond-Ginsbach, M Schwaninger.   

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Year:  2006        PMID: 16813608     DOI: 10.1111/j.1399-0004.2006.00631.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  12 in total

Review 1.  Gap junctions couple astrocytes and oligodendrocytes.

Authors:  Jennifer L Orthmann-Murphy; Charles K Abrams; Steven S Scherer
Journal:  J Mol Neurosci       Date:  2008-05       Impact factor: 3.444

2.  A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

Authors:  X Huang; N Wang; X Xiao; S Li; Q Zhang
Journal:  Eye (Lond)       Date:  2015-05-15       Impact factor: 3.775

Review 3.  Gap junctions in inherited human disorders of the central nervous system.

Authors:  Charles K Abrams; Steven S Scherer
Journal:  Biochim Biophys Acta       Date:  2011-08-16

4.  Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.

Authors:  I Harting; S Karch; U Moog; A Seitz; P J W Pouwels; N I Wolf
Journal:  AJNR Am J Neuroradiol       Date:  2019-05-02       Impact factor: 3.825

Review 5.  Connexins and Pannexins in Bone and Skeletal Muscle.

Authors:  Lilian I Plotkin; Hannah M Davis; Bruno A Cisterna; Juan C Sáez
Journal:  Curr Osteoporos Rep       Date:  2017-08       Impact factor: 5.096

6.  Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V.

Authors:  Jana Chtchetinin; Wes D Gifford; Sichen Li; William A Paznekas; Ethylin Wang Jabs; Albert Lai
Journal:  FEBS J       Date:  2009-10-27       Impact factor: 5.542

7.  A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation.

Authors:  Momoko Himi; Takuro Fujimaki; Toshiyuki Yokoyama; Keiko Fujiki; Toshiaki Takizawa; Akira Murakami
Journal:  Jpn J Ophthalmol       Date:  2009-10-22       Impact factor: 2.447

8.  Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.

Authors:  Xueqing Li; Xueshan Xiao; Shiqiang Li; Jiamin Ouyang; Wenmin Sun; Xing Liu; Qingjiong Zhang
Journal:  Mol Vis       Date:  2021-05-13       Impact factor: 2.367

9.  The epidemiology, genetics and future management of syndactyly.

Authors:  D Jordan; S Hindocha; M Dhital; M Saleh; W Khan
Journal:  Open Orthop J       Date:  2012-03-23

Review 10.  Role of connexins and pannexins during ontogeny, regeneration, and pathologies of bone.

Authors:  Lilian I Plotkin; Dale W Laird; Joelle Amedee
Journal:  BMC Cell Biol       Date:  2016-05-24       Impact factor: 4.241

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