Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.
Alayed Y et al.
Global Pediatric Health, 2024
Fluconazole-Induced Protein Changes in Osteogenic and Immune Metabolic Pathways of Dental Pulp Mesenchymal Stem Cells of Osteopetrosis Patients.
Alkhayal Z et al.
International Journal of Molecular Sciences, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Blessing in disguise: when head trauma solves the riddle of carbonic anhydrase II deficiency.
Al Zu'bi YO et al.
Radiology Case Reports, 2022
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.
Yang Y et al.
Metabolic Brain Disease, 2021
Proteomic Profiling of the First Human Dental Pulp Mesenchymal Stem/Stromal Cells from Carbonic Anhydrase II Deficiency Osteopetrosis Patients.
Alkhayal Z et al.
International Journal of Molecular Sciences, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea.
di Palmo E et al.
Frontiers in Pediatrics, 2018
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis.
Alsemari A et al.
The Application of Clinical Genetics, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Carbonic anhydrase II deficiency: report of a novel mutation.
Alsharidi A et al.
Cen Case Reports, 2016
Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.
Pang Q et al.
Metabolic Brain Disease, 2015
Carbonic Anhydrase II Deficiency in a Saudi Woman.
Alhuzaim ON et al.
Clinical Medicine Insights. Case Reports, 2015
Genetic causes and mechanisms of distal renal tubular acidosis.
Batlle D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Vivante A et al.
Nephron. Physiology, 2011
Carbonic anhydrase II deficiency a novel mutation.
Nampoothiri S et al.
Indian Pediatrics, 2009
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
Lotan D et al.
Pediatric Nephrology (berlin, Germany), 2006
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Shah GN et al.
Human Mutation, 2004