Hatem El-Shanti

Summary

Affiliation: University of Iowa
Country: USA

Publications

  1. ncbi request reprint A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan
    Hatem El-Shanti
    Department of Pediatrics, Division of Medical Genetics, University of Iowa, UIHC, 2615 JCP, Iowa City, IA 52242, USA
    Brain Dev 28:353-7. 2006
  2. ncbi request reprint Familial mediterranean fever in Arabs
    Hatem El-Shanti
    Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City, IA, USA
    Lancet 367:1016-24. 2006
  3. ncbi request reprint Chronic recurrent multifocal osteomyelitis: a concise review and genetic update
    Hatem I El-Shanti
    Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
    Clin Orthop Relat Res 462:11-9. 2007
  4. pmc A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis
    Polly J Ferguson
    Department of Pediatrics, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Bone 38:41-7. 2006
  5. ncbi request reprint Autoinflammatory bone disorders
    Polly J Ferguson
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Curr Opin Rheumatol 19:492-8. 2007
  6. ncbi request reprint Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population
    Jamil R Al-Alami
    Department of Biochemistry, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
    Saudi Med J 24:1055-9. 2003
  7. ncbi request reprint A splice site mutation confirms the role of LPIN2 in Majeed syndrome
    Zakiya S Al-Mosawi
    Salmanyia Medical Complex, Manama, Kingdom of Bahrain
    Arthritis Rheum 56:960-4. 2007
  8. ncbi request reprint Linkage analysis of a large inbred family with congenital megaloblastic anemia
    Jamil R Al-Alami
    Department of Biochemistry, Jordan University of Science and Technology, Irbid, Jordan
    Saudi Med J 23:1251-6. 2002
  9. ncbi request reprint Consanguinity: implications for practice, research, and policy
    Ahmad S Teebi
    Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, ON M5G 1X8, Canada
    Lancet 367:970-1. 2006

Research Grants

Collaborators

Detail Information

Publications9

  1. ncbi request reprint A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan
    Hatem El-Shanti
    Department of Pediatrics, Division of Medical Genetics, University of Iowa, UIHC, 2615 JCP, Iowa City, IA 52242, USA
    Brain Dev 28:353-7. 2006
    ..A recently described autosomal recessive variant of Unverricht-Lundborg disease also maps to the same region. We discuss the similarities and differences between our family and the family with the Unverricht-Lundborg disease variant...
  2. ncbi request reprint Familial mediterranean fever in Arabs
    Hatem El-Shanti
    Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City, IA, USA
    Lancet 367:1016-24. 2006
    ..Here, we discuss the clinical and molecular aspects of FMF in Arabs...
  3. ncbi request reprint Chronic recurrent multifocal osteomyelitis: a concise review and genetic update
    Hatem I El-Shanti
    Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
    Clin Orthop Relat Res 462:11-9. 2007
    ..We emphasize the need to validate diagnostic clinical criteria and develop new pathogenesis-based targeted therapy...
  4. pmc A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis
    Polly J Ferguson
    Department of Pediatrics, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Bone 38:41-7. 2006
    ..These data suggest that mutations in pstpip2 may be the genetic explanation for the autoinflammatory phenotype seen in the cmo mouse...
  5. ncbi request reprint Autoinflammatory bone disorders
    Polly J Ferguson
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Curr Opin Rheumatol 19:492-8. 2007
    ..This review provides an update on clinical, genetic, and immunologic aspects of the autoinflammatory bone disorders...
  6. ncbi request reprint Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population
    Jamil R Al-Alami
    Department of Biochemistry, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
    Saudi Med J 24:1055-9. 2003
    ..The gene implicated in this disorder, MEFV, has been cloned and mutations in its coding regions have been identified. We aimed at identifying the frequency of MEFV mutations and carrier frequency in a mixed Arabic population...
  7. ncbi request reprint A splice site mutation confirms the role of LPIN2 in Majeed syndrome
    Zakiya S Al-Mosawi
    Salmanyia Medical Complex, Manama, Kingdom of Bahrain
    Arthritis Rheum 56:960-4. 2007
    ..2327+1G>C) in the patient; her mother was heterozygous at this site. These data confirm the role of LPIN2 mutations in the etiology of Majeed syndrome...
  8. ncbi request reprint Linkage analysis of a large inbred family with congenital megaloblastic anemia
    Jamil R Al-Alami
    Department of Biochemistry, Jordan University of Science and Technology, Irbid, Jordan
    Saudi Med J 23:1251-6. 2002
    ..The genes responsible for the 3 disorders are gene intrinsic factor (GIF), MGA1 and TCN2, as well as the gene for Transcobalamin I, TCN1 are mapped or cloned, or both...
  9. ncbi request reprint Consanguinity: implications for practice, research, and policy
    Ahmad S Teebi
    Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, ON M5G 1X8, Canada
    Lancet 367:970-1. 2006

Research Grants1

  1. Examination of the role of LPIN2 variations in skin and bone inflammation
    Hatem El Shanti; Fiscal Year: 2007
    ..It also examines whether LPIN2 can be a cause of chronic recurrent multifocal osteomyelitis (CRMO). Understanding the mechanisms behind psoriasis and CRMO is very important for the development of appropriate therapy. ..