Hatem El-Shanti
Personal Home Page
http://www.uihealthcare.com/depts/med/pediatrics/pedsmds/elshanti.html
Articles in Scholarly Journals [Incomplete List]
- 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 - 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 - Familial Mediterranean fever in Arabs
The Lancet, vol. 367, no. 9515, pp. 1016–1024, 2006 - 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 - 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 - 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 - Further delineation of El-Shanti syndrome
European Journal of Pediatrics, vol. 163, no. 12, pp. 761–762, 2004 - Risk factors for childhood epilepsy: a case-control study from Irbid, Jordan
Seizure, vol. 12, no. 3, pp. 171–174, 2003 - Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome
European Journal of Pediatrics, vol. 162, no. 1, pp. 36–40, 2003 - Wolfram syndrome: Identification of a phenotypic and genotypic variant from Jordan
American Journal of Medical Genetics, vol. 115, no. 1, pp. 61–65, 2002 - Genotype/phenotype correlations in Arab patients with familial Mediterranean fever
Seminars in Arthritis and Rheumatism, vol. 31, no. 6, pp. 371–376, 2002 - 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 - The Impact of Genetic Diseases on Jordanians: Strategies Towards Prevention
Journal of Biomedicine and Biotechnology, vol. 1, no. 1, pp. 45–47, 2001 - 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 - 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 - 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 - 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 - Familial disorder of sex determination in seven individuals from three related sibships
European Journal of Pediatrics, vol. 159, no. 12, pp. 912–918, 2000 - A clinical study of a large inbred kindred with pure familial spastic paraplegia
Brain and Development, vol. 21, no. 7, pp. 478–482, 1999 - 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 - Nature Genetics, vol. 23, no. 1, pp. 94–98, 1999
- 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