E Elsobky

Publications (3)14.57 Total impact

• Article: Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

  I Ebermann, S M Elsayed, T Y Abdel-Ghaffar, G Nürnberg, P Nürnberg, E Elsobky, H J Bolz
  Neurology 07/2008; 70(24):2343-4. · 8.31 Impact Factor
• Article: A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.

  M A Karim, A J Parsian, M A Cleves, J Bracey, M S Elsayed, E Elsobky, A Parsian
  Clinical Genetics 12/2006; 70(5):420-3. · 3.13 Impact Factor
• Article: Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.

  M Tekin, G Boğoclu, S T Arican, M N Orman, H Tastan, E Elsobky, S Elsayed, N Akar
  [show abstract] [hide abstract]
  ABSTRACT: Eighteen different sequence changes, including three novel alterations, were detected in GJB2, encoding connexin 26, in 371 Turkish probands with non-syndromic sensorineural hearing loss. Two frequently detected mutations, 35delG and delE120, were shown to have single origins based on the conserved genotypes of two closely linked microsatellite and five single nucleotide polymorphism markers. Carrier frequencies of 35delG and delE120 in Egypt and Turkic populations of the Near East provide insights about the origin of these two mutations.
  Clinical Genetics 02/2005; 67(1):31-7. · 3.13 Impact Factor