Solaf M Elsayed

Summary

Publications

  1. ncbi Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis
    Tawhida Y Abdel Ghaffar
    Yassin Abdelghaffar Charity Center for Liver Disease and Research, Cairo, Egypt
    Orphanet J Rare Dis 6:13. 2011
  2. ncbi Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene
    Chiara Redaelli
    Department of Psychology, Catholic University of the Sacred Heart, Milan, Italy
    Orphanet J Rare Dis 5:33. 2010
  3. ncbi Phenotype of apoptotic lymphocytes in children with Down syndrome
    Solaf M Elsayed
    Genetics Unit, Pediatrics Department, Ain Shams University, Cairo, Egypt
    Immun Ageing 6:2. 2009
  4. ncbi Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients
    Tawhida Y Abdel Ghaffar
    Yassin Abdel Ghaffar Charity Center for Liver Disease and Research, Cairo, Egypt
    BMC Pediatr 11:56. 2011

Collaborators

  • Tawhida Y Abdel Ghaffar
  • Chiara Redaelli
  • Rosalind A Coleman
  • Daniele Prati
  • Roberto Colombo
  • Laura Moro
  • Catherine Dacou-Voutetakis
  • Donatella Mela
  • Agostino Colli
  • Daniela Tavian

Detail Information

Publications4

  1. ncbi Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis
    Tawhida Y Abdel Ghaffar
    Yassin Abdelghaffar Charity Center for Liver Disease and Research, Cairo, Egypt
    Orphanet J Rare Dis 6:13. 2011
    ..To the best of our knowledge, cholestatic liver disease was not previously reported in these patients...
  2. ncbi Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene
    Chiara Redaelli
    Department of Psychology, Catholic University of the Sacred Heart, Milan, Italy
    Orphanet J Rare Dis 5:33. 2010
    ..The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system (CNS). Mutations in ABHD5/CGI58 gene are associated with CDS...
  3. ncbi Phenotype of apoptotic lymphocytes in children with Down syndrome
    Solaf M Elsayed
    Genetics Unit, Pediatrics Department, Ain Shams University, Cairo, Egypt
    Immun Ageing 6:2. 2009
    ..Further studies on apoptotic cellular phenotype in larger number of DS are needed...
  4. ncbi Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients
    Tawhida Y Abdel Ghaffar
    Yassin Abdel Ghaffar Charity Center for Liver Disease and Research, Cairo, Egypt
    BMC Pediatr 11:56. 2011
    ..The aim of this study is to highlight the clinical, laboratory and genetic characteristics of this disease in our pediatric population as well as to report our experience with both treatment options and outcome...