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ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1

Known as: EEC, Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1, EEC SYNDROME 1 
National Institutes of Health

Related topics

Related topics

33 relations
Autosomal dominant inheritanceBladder DiverticulumBlepharitisBlepharophimosis

Broader (5)

Cleft LipCleft PalateCongenital Hand DeformitiesEctodermal Dysplasia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects
The congenital malformation Split Hand-Foot Malformation (SHFM, or ectrodactyly) is characterized by a medial cleft of hands and… 
Highly Cited
2006
Highly Cited
2006
Tree Irrigation Levels for Optimum Chemical and Sensory Properties of Olive Oil
A comparative study was conducted to evaluate the infl uence of seven different levels of irrigation applied to 'Arbequina I-18… 
Highly Cited
2004
Highly Cited
2004
Serous Endometrial Cancers That Mimic Endometrioid Adenocarcinomas: A Clinicopathologic and Immunohistochemical Study of a Group of Problematic Cases
Background: Uterine serous carcinomas (USCs) can exhibit an architecturally well-differentiated tubuloglandular morphology with… 
Review
2002
Review
2002
The p63 gene in EEC and other syndromes
Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These… 
Highly Cited
2002
Highly Cited
2002
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.
The transcriptional co-activator p63 is of crucial importance for correct development of the limbs, ectodermal appendages (skin… 
Highly Cited
2001
Highly Cited
2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal… 
Highly Cited
2001
Highly Cited
2001
"Virtual keyboard" controlled by spontaneous EEG activity
A "virtual keyboard" (VK) is a letter spelling device operated for example by spontaneous electroencephalogram (EEG), whereby the… 
Highly Cited
2000
Highly Cited
2000
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
Split-hand/split-foot malformation (SHFM), a limb malformation involving the central rays of the autopod and presenting with… 
Highly Cited
1992
Highly Cited
1992
Cerebral Histologic and Electrocorticographic Changes after Asphyxia in Fetal Sheep
ABSTRACT: Asphyxia can cause neurologic damage in the fetus, hot there are few data relating severity or duration of asphyxia to… 
Highly Cited
1977
Highly Cited
1977
Erythroid colony formation by polycythemia vera bone marrow in vitro. Dependence on erythropoietin.
In the plasma clot culture system both normal and polycythemia vera (PV) bone marrow cells respond to erythropoietin (Ep), giving… 
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