|1.||Shao, Qing: 5 articles (08/2010 - 10/2005)|
|2.||Laird, Dale W: 5 articles (08/2010 - 10/2005)|
|3.||Kidder, Gerald M: 3 articles (06/2008 - 10/2005)|
|4.||Civitelli, Roberto: 2 articles (04/2011 - 02/2008)|
|5.||Watkins, Marcus: 2 articles (04/2011 - 02/2008)|
|6.||Tong, Dan: 2 articles (06/2008 - 10/2005)|
|7.||Willecke, Klaus: 2 articles (02/2008 - 10/2007)|
|8.||Dobrowolski, Radoslaw: 2 articles (02/2008 - 10/2007)|
|9.||Koivunen, Peppi: 2 articles (10/2007 - 09/2006)|
|10.||Myllyharju, Johanna: 2 articles (10/2007 - 09/2006)|
11/01/2011 - "The purposes of this study were to investigate the incidence of the reported associated conditions in the families of our patients with ODDD, correlate them with the severity of syndactyly, and provide better counseling with more accurate information for these patients and families. "
11/01/2011 - "In addition, associated ophthalmologic, dental, and developmental conditions are frequent and a heightened awareness will allow appropriate referrals for patients with ulnar-sided syndactyly in ODDD. "
11/01/2011 - "Hand surgeons are often the first specialists to see patients with oculodentodigital dysplasia (ODDD), when infants with ulnar-sided syndactyly are referred. "
10/01/2007 - "In patients, the I31M and G138R mutations showed all phenotypic characteristics of ODDD, whereas G143S did not result in facial abnormalities and H194P mutated patients exhibited no syndactylies. "
10/01/2007 - "Oculodentodigital dysplasia (ODDD) is a dominantly inherited human disorder associated with different symptoms like craniofacial anomalies, syndactyly and heart dysfunction. "
08/01/2010 - "Collectively, our results suggest that the increased skin disease burden exhibited in ODDD patients harbouring the fs260 mutant is probably due to multiple additive effects cause by the mutant during epidermal differentiation."
02/15/2007 - "We speculated, that truncation of the C-terminus may be uniquely associated with skin disease in ODDD. "
10/12/2007 - "Altogether, these studies provide an explanation as to why the vast majority of ODDD patients, where Cx43 function is highly compromised, do not suffer from skin disease."
08/01/2010 - "To determine how mutants of Cx43 can lead to this skin disease, REKs (rat epidermal keratinocytes) were engineered to express an ODDD-associated Cx43 mutant always linked to skin disease (fs260), an ODDD-linked Cx43 mutant which has been reported to sometimes cause skin disease (fs230), Cx43 mutants which cause ODDD only (G21R, G138R), a mouse Cx43 mutant linked to ODDD (G60S), a non-disease-linked truncated Cx43 mutant that is trapped in the endoplasmic reticulum (Delta244*) or full-length Cx43. "
|4.||Neurologic Manifestations (Neurological Manifestations)
10/01/2014 - "This report describes a rare incidence of ODDD-linked dermatological, cardiac, dental, and neurologic manifestations noted in an Indian child patient. "
01/01/2013 - "In a final step, we examine the possibilities of how channel dysfunction may lead to some of the neurological manifestations of ODDD. "
01/01/2012 - "Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs. "
11/01/2011 - "We found a 29% incidence of neurologic manifestations in patients with ODDD. "
11/01/2011 - "Neurologic findings likely related to ODDD were found in 11 patients. "
09/01/2011 - "Her mother had presented with oculodentodigital dysplasia (ODDD) and glaucoma. "
09/01/2009 - "Glaucoma complications associated with ODDD have already been reported. "
10/01/2005 - "Clinical Relevance The presence of different forms of glaucoma in families with ODDD may indicate a new mutation in the GJA1 gene."
03/01/2009 - "L113P represents a pathogenic mutation in GJA1 (Cx43) and results in ODDD with marked intrafamilial variation in glaucoma type and severity."
01/01/2009 - "The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. "
|1.||Connexin 43 (Connexin43)
|3.||Small Interfering RNA (siRNA)