Affiliation: University of Iowa
- A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from JordanHatem 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...
- Familial mediterranean fever in ArabsHatem 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...
- Chronic recurrent multifocal osteomyelitis: a concise review and genetic updateHatem 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...
- A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitisPolly 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...
- Autoinflammatory bone disordersPolly 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...
- Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic populationJamil 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...
- A splice site mutation confirms the role of LPIN2 in Majeed syndromeZakiya 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...
- Linkage analysis of a large inbred family with congenital megaloblastic anemiaJamil 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...
- Consanguinity: implications for practice, research, and policyAhmad 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