Hatem El-Shanti

Personal Home Page

http://www.uihealthcare.com/depts/med/pediatrics/pedsmds/elshanti.html

Articles in Scholarly Journals [Incomplete List]

  1. A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2
    The American Journal of Human Genetics, vol. 81, no. 4, pp. 673–683, 2007
  2. A distinct autosomal recessive ataxia maps to chromosome 12in an inbred family from Jordan
    Brain and Development, vol. 28, no. 6, pp. 353–357, 2006
  3. Familial Mediterranean fever in Arabs
    The Lancet, vol. 367, no. 9515, pp. 1016–1024, 2006
  4. The Spectrum of Familial Mediterranean Fever Gene Mutations in Arabs: Report of a Large Series
    Seminars in Arthritis and Rheumatism, vol. 34, no. 6, pp. 813–818, 2005
  5. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment
    Journal of Molecular Medicine, vol. 84, no. 3, pp. 226–231, 2005
  6. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
    Journal of Medical Genetics, vol. 42, no. 7, pp. 551–557, 2005
  7. Further delineation of El-Shanti syndrome
    European Journal of Pediatrics, vol. 163, no. 12, pp. 761–762, 2004
  8. Risk factors for childhood epilepsy: a case-control study from Irbid, Jordan
    Seizure, vol. 12, no. 3, pp. 171–174, 2003
  9. Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome
    European Journal of Pediatrics, vol. 162, no. 1, pp. 36–40, 2003
  10. Wolfram syndrome: Identification of a phenotypic and genotypic variant from Jordan
    American Journal of Medical Genetics, vol. 115, no. 1, pp. 61–65, 2002
  11. Genotype/phenotype correlations in Arab patients with familial Mediterranean fever
    Seminars in Arthritis and Rheumatism, vol. 31, no. 6, pp. 371–376, 2002
  12. Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3
    The American Journal of Human Genetics, vol. 68, no. 4, pp. 1055–1060, 2001
  13. The Impact of Genetic Diseases on Jordanians: Strategies Towards Prevention
    Journal of Biomedicine and Biotechnology, vol. 1, no. 1, pp. 45–47, 2001
  14. Induction of chromosomal aberrations by the rhodium(III) complex cis-[Rh(biq)2Cl2]Cl in cultured human lymphocytes
    Mutagenesis, vol. 15, no. 5, pp. 375–378, 2000
  15. THE EFFECT OF TRIFLUOPERAZINE ON THE GENOTOXICITY OF BLEOMYCIN IN CULTURED HUMAN LYMPHOCYTES
    Drug and Chemical Toxicology, vol. 23, no. 2, pp. 361–369, 2000
  16. Homozygosity Mapping Identifies an Additional Locus for Wolfram Syndrome on Chromosome 4q
    The American Journal of Human Genetics, vol. 66, no. 4, pp. 1229–1236, 2000
  17. On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia
    Journal of Pediatrics, vol. 137, no. 3, pp. 441–442, 2000
  18. Familial disorder of sex determination in seven individuals from three related sibships
    European Journal of Pediatrics, vol. 159, no. 12, pp. 912–918, 2000
  19. A clinical study of a large inbred kindred with pure familial spastic paraplegia
    Brain and Development, vol. 21, no. 7, pp. 478–482, 1999
  20. Henoch-Schonlein purpura and streptococcal infection: a prospective case-control study
    Annals of Tropical Paediatrics: International Child Health, vol. 19, no. 3, pp. 253–255, 1999
  21. Nature Genetics, vol. 23, no. 1, pp. 94–98, 1999
  22. Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate
    The Journal of Pediatrics, vol. 123, no. 3, pp. 427–430, 1993