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The British Journal of Dermatology|March 13, 2010
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia casesN Chassaing, C Cluzeau, E Bal, et al.Human Mutation|March 14, 2007
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locusE Bal, L Baala, C Cluzeau, et al.Human Molecular Genetics|February 1, 1994
The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28A Smahi, C Hyden-Granskog, B Peterlin, et al.Clinical Genetics|March 19, 2010
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findingsF Clauss, N Chassaing, A Smahi, et al.Human Molecular Genetics|October 9, 2001
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutationsS Aradhya, H Woffendin, T Jakins, et al.American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.Nature|June 6, 2000
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumA Smahi, G Courtois, P Vabres, et al.Nature Genetics|March 10, 2001
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signalingR Döffinger, A Smahi, C Bessia, et al.Pageof 2