All Stories

  1. Multivariate epidemiologic analysis of type 2 diabetes mellitus risks in the Lebanese population

    Article • Diabetology & Metabolic Syndrome, August 2014, Springer Science + Business Media

    Dr Hatem El-Shanti

  2. Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features

    Article • Clinical Case Reports, July 2014, Wiley

    Dr Hatem El-Shanti

  3. Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

    Article • Orphanet Journal of Rare Diseases, June 2014, Springer Science + Business Media

    Dr Hatem El-Shanti

  4. A Novel De Novo Pstpip1 Mutation In A Boy With Pyogenic Arthritis, Pyoderma Gangrenosum, Acne (Papa) Syndrome

    Article • Qatar Foundation Annual Research Forum Proceedings, November 2013, QScience

    Dr Hatem El-Shanti

  5. Identification of de novo and rare inherited mutations in autism spectrum disorder probands from Qatar by whole genome sequencing.

    Article • Qatar Foundation Annual Research Forum Proceedings, November 2013, QScience

    Dr Hatem El-Shanti

  6. Chronic Recurrent Multifocal Osteomyelitis and Deficiency of Interleukin-1–receptor Antagonist

    Article • The Pediatric Infectious Disease Journal, January 2013, Wolters Kluwer Health

    Dr Hatem El-Shanti

  7. Bioinformatic parallel processing tools development for mutation identification from whole exome data following homozygosity mapping for autosomal recessive disorders

    Article • Qatar Foundation Annual Research Forum Proceedings, October 2012, QScience

    Dr Hatem El-Shanti

  8. Molecular genetic approach to the diagnosis of a clinically equivocal retinopathy

    Article • Qatar Foundation Annual Research Forum Proceedings, October 2012, QScience

    Dr Hatem El-Shanti

  9. Identification of a novel mutation in a glycosylation type I defect gene causing a unique phenotype by homozygosity mapping and whole exome sequencing of an affected individual

    Article • Qatar Foundation Annual Research Forum Proceedings, October 2012, QScience

    Dr Hatem El-Shanti

  10. Mutations in a zinc finger protein causing a novel autosomal recessive mental retardation syndrome identified through homozygosity mapping and whole exome sequencing of a single affected individual

    Article • Qatar Foundation Annual Research Forum Proceedings, October 2012, QScience

    Dr Hatem El-Shanti

  11. Approach To The Genetic Dissection Of Primary Ciliary Dyskinesia (PCD) In The Qatari Population

    Article • May 2012, American Thoracic Society

    Dr Hatem El-Shanti, Ibrahim Janahi, Dr Ammar Saadoon Alishlash

  12. A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: Description of two unrelated cases from Brazil

    Article • Arthritis & Rheumatism, November 2011, Wiley

    Dr Hatem El-Shanti

  13. Study of Undelineated Autosomal Recessive Disorder among Arabs

    Article • Qatar Foundation Annual Research Forum Proceedings, November 2011, QScience

    Dr Hatem El-Shanti

  14. Homozygosity mapping identifies additional loci for primary ciliary dyskinesia in two Qatari families

    Article • Qatar Foundation Annual Research Forum Proceedings, December 2010, QScience

    Dr Hatem El-Shanti

  15. Mutations in IL1RN in bone and skin inflammation

    Article • Qatar Foundation Annual Research Forum Proceedings, December 2010, QScience

    Dr Hatem El-Shanti

  16. Characterization of the LPIN2 gene and its protein and examination of its role in psoriasis

    Article • Qatar Foundation Annual Research Forum Proceedings, December 2010, QScience

    Dr Hatem El-Shanti

  17. Screening for and cloning and molecular characterization of two new oligopeptidase B encoding genes

    Article • Qatar Foundation Annual Research Forum Proceedings, December 2010, QScience

    Dr Hatem El-Shanti

  18. The spectrum of Mediterranean fever (MEFV) mutations in an Arabic cohort

    Article • Qatar Foundation Annual Research Forum Proceedings, December 2010, QScience

    Dr Hatem El-Shanti

  19. Molecular analysis of phenylalanine hydroxylase (PAH) gene from dried blood spots from Libyan phenylketonuria patients

    Article • Qatar Foundation Annual Research Forum Proceedings, December 2010, QScience

    Dr Hatem El-Shanti

  20. A novelDNAH11mutation in a Qatari family with primary ciliary dyskinesia

    Article • Qatar Foundation Annual Research Forum Proceedings, December 2010, QScience

    Dr Hatem El-Shanti

  21. Gene identification in Mendelian forms of familial epilepsy

    Article • Qatar Foundation Annual Research Forum Proceedings, December 2010, QScience

    Dr Hatem El-Shanti

  22. Genetic Disorders in Jordan

    Article • January 2010, Springer Science + Business Media

    Dr Hatem El-Shanti

  23. Familial Mediterranean Fever and Other Autoinflammatory Disorders

    Article • January 2010, Springer Science + Business Media

    Dr Hatem El-Shanti

  24. A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis

    Article • The American Journal of Human Genetics, February 2009, Elsevier

    Dr Hatem El-Shanti

  25. A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

    Article • The American Journal of Human Genetics, November 2008, Elsevier

    Dr Hatem El-Shanti

  26. Neutrophil dysfunction in a family with a SAPHO syndrome–like phenotype

    Article • Arthritis & Rheumatism, September 2008, Wiley

    Dr Hatem El-Shanti

  27. Breakpoint localization using array‐CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS)

    Article • American Journal of Medical Genetics Part A, August 2008, Wiley

    Dr Hatem El-Shanti

  28. The infevers autoinflammatory mutation online registry: update with new genes and functions

    Article • Human Mutation, June 2008, Hindawi Publishing Corporation

    Dr Hatem El-Shanti

  29. Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture

    Article • The American Journal of Human Genetics, January 2008, Elsevier

    Dr Hatem El-Shanti

  30. A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

    Article • The American Journal of Human Genetics, October 2007, Elsevier

    Dr Hatem El-Shanti

  31. Autoinflammatory bone disorders

    Article • Current Opinion in Rheumatology, September 2007, Wolters Kluwer Health

    Dr Hatem El-Shanti

  32. Chronic Recurrent Multifocal Osteomyelitis

    Article • Clinical Orthopaedics and Related Research, September 2007, Wolters Kluwer Health

    Dr Hatem El-Shanti

  33. A splice site mutation confirms the role of LPIN2 in Majeed syndrome

    Article • Arthritis & Rheumatism, February 2007, Wiley

    Dr Hatem El-Shanti

  34. A distinct autosomal recessive ataxia maps to chromosome 12in an inbred family from Jordan

    Article • Brain and Development, July 2006, Elsevier

    Dr Hatem El-Shanti, Dr Ammar Saadoon Alishlash

  35. Familial Mediterranean fever in Arabs

    Article • The Lancet, March 2006, Elsevier

    Dr Hatem El-Shanti

  36. Consanguinity: implications for practice, research, and policy

    Article • The Lancet, March 2006, Elsevier

    Dr Hatem El-Shanti

  37. A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

    Article • Bone, January 2006, Elsevier

    Dr Hatem El-Shanti

  38. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment

    Article • Journal of Molecular Medicine, December 2005, Springer Science + Business Media

    Dr Hatem El-Shanti

  39. The Spectrum of Familial Mediterranean Fever Gene Mutations in Arabs: Report of a Large Series

    Article • Seminars in Arthritis and Rheumatism, June 2005, Elsevier

    Dr Hatem El-Shanti

  40. Further delineation of El-Shanti syndrome

    Article • European Journal of Pediatrics, August 2004, Springer Science + Business Media

    Dr Hatem El-Shanti

  41. Hereditary spastic paraplegia

    Article • January 2004, Elsevier

    Dr Hatem El-Shanti

  42. Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

    Article • European Journal of Pediatrics, January 2003, Springer Science + Business Media

    Dr Hatem El-Shanti

  43. Genotype/phenotype correlations in Arab patients with familial Mediterranean fever

    Article • Seminars in Arthritis and Rheumatism, June 2002, Elsevier

    Dr Hatem El-Shanti

  44. Wolfram syndrome: Identification of a phenotypic and genotypic variant from Jordan

    Article • American Journal of Medical Genetics, May 2002, Wiley

    Dr Hatem El-Shanti

  45. Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”

    Article • European Journal of Pediatrics, January 2002, Springer Science + Business Media

    Dr Hatem El-Shanti

  46. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

    Article • European Journal of Pediatrics, October 2001, Springer Science + Business Media

    Dr Hatem El-Shanti

  47. Raine syndrome: report of a case with hand and foot anomalies

    Article • Clinical Dysmorphology, July 2001, Wolters Kluwer Health

    Dr Hatem El-Shanti

  48. Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3

    Article • The American Journal of Human Genetics, April 2001, Elsevier

    Dr Hatem El-Shanti

  49. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation

    Article • European Journal of Pediatrics, March 2001, Springer Science + Business Media

    Dr Hatem El-Shanti

  50. The Impact of Genetic Diseases on Jordanians: Strategies Towards Prevention

    Article • Journal of Biomedicine and Biotechnology, January 2001, Hindawi Publishing Corporation

    Dr Hatem El-Shanti

  51. Familial disorder of sex determination in seven individuals from three related sibships

    Article • European Journal of Pediatrics, November 2000, Springer Science + Business Media

    Dr Hatem El-Shanti

  52. Homozygosity Mapping Identifies an Additional Locus for Wolfram Syndrome on Chromosome 4q

    Article • The American Journal of Human Genetics, April 2000, Elsevier

    Dr Hatem El-Shanti

  53. THE EFFECT OF TRIFLUOPERAZINE ON THE GENOTOXICITY OF BLEOMYCIN IN CULTURED HUMAN LYMPHOCYTES

    Article • Drug and Chemical Toxicology, January 2000, Taylor & Francis

    Dr Hatem El-Shanti

  54. A clinical study of a large inbred kindred with pure familial spastic paraplegia

    Article • Brain and Development, October 1999, Elsevier

    Dr Hatem El-Shanti, Dr. Anwar Mahmoud Batieha

  55. Henoch-Schonlein purpura and streptococcal infection: a prospective case-control study

    Article • Annals of Tropical Paediatrics, September 1999, Taylor & Francis

    Dr Hatem El-Shanti, Dr. Anwar Mahmoud Batieha

  56. Fine Mapping of Progressive Pseudorheumatoid Dysplasia: A Tool for Heterozygote Identification

    Article • Genetic Testing, January 1999, Mary Ann Liebert Inc

    Dr Hatem El-Shanti

  57. Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene

    Article • European Journal of Human Genetics, May 1998, Springer Science + Business Media

    Dr Hatem El-Shanti

  58. The clinical spectrum of Henoch-Schönlein purpura in infants and young children

    Article • European Journal of Pediatrics, December 1995, Springer Science + Business Media

    Dr Hatem El-Shanti

  59. Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate

    Article • The Journal of Pediatrics, September 1993, Elsevier

    Dr Hatem El-Shanti