Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

…, H Rezai-Delui, E Legius, M Le Merrer, J Al-Alami… - Nature …, 1999 - nature.com
Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich
secreted proteins with roles in cell growth and differentiation 1. Cell-specific and tissue-specific …

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

…, M Brown, A Al‐Dosari, J AlAlami… - Arthritis & …, 2011 - Wiley Online Library
Objective Monogenic autoinflammatory diseases are disorders of Mendelian inheritance that
are characterized by mutations in genes that regulate innate immunity and whose typical …

[PDF][PDF] Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population

JR Al-Alami, MK Tayeh, DA Najib… - Saudi medical …, 2003 - researchgate.net
Results: Out of the 58 alleles of the 29 probands, only 31 mutations were identified and
M694V and V726A are the most common. The mutation E148Q was the most common among …

Zinc in normal and pathological human prostate gland.

ZM Bataineh, BH IH, JR Al-Alami - Saudi medical journal, 2002 - europepmc.org
Objective This study is conducted to detect quantitatively zinc in the nuclei and cytoplasm of
epithelial cells of the prostate from normal, acute prostatitis, benign prostatic hyperplasia …

Reactivation of latent Toxoplasma gondii in immunocompromised cancer patients

MN Khabaz, L Elkhateeb, J Al-Alami - Comparative clinical pathology, 2011 - Springer
Active Toxoplasma gondii infection in cancer patients undergoing anticancer chemotherapy
was evaluated using both enzyme-linked immunosorbent assay (ELISA) and polymerase …

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

…, C Thauvin‐Robinet, J AlAlami… - Annals of clinical …, 2017 - Wiley Online Library
Jamil Al-AlamiJamil Al-Alami who sadly passed away during the work on this project.
Jamil was highly regarded as a physician, colleague, friend, and overall a great person. …

[PDF][PDF] Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene

…, KH Beutow, T Scherpbier, J Al-Alami - European Journal of …, 1998 - researchgate.net
Progressive pseudorheumatoid dysplasia is an autosomal recessive skeletal dysplasia with
radiographic changes in the spine similar to Spondyloepiphyseal dysplasia tarda and …

[HTML][HTML] Enhancing Photodynamic Therapy Efficacy Through Silica Nanoparticle-Mediated Delivery of Temoporfin for Targeted Breast Cancer Treatment

…, T AlZoubi, AM Aljarrah, JH Al Alami… - Photodiagnosis and …, 2024 - Elsevier
Photodynamic therapy (PDT), a novel approach to cancer treatment, relies fundamentally on
two key elements: a light source and a photosensitizing agent. A primary challenge in PDT …

[PDF][PDF] Serum sex hormones in premenopausal women with coronary heart disease

…, M Karayyem, MA Mohammad, J Al-Alami… - Neuroendocrinology …, 2006 - nel.edu
OBJECTIVES: The objectives of this study were to investigate the relationship between the
incidence of coronary heart diseases in premenopausal women and plasma level of total and …

Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.

JR Al-Alami, SM Tanner, MK Tayeh… - Saudi medical …, 2005 - europepmc.org
Objective Juvenile megaloblastic anemia is a rare and often hereditary disorder of
cobalamin absorption, transport or intracellular metabolism. Several syndromes present with …