Associated Papers
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Trio-WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China.
Zhang R et al.
Molecular Genetics and Genomics : Mgg, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
Li Q et al.
Bmc Pediatrics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Baz DS et al.
Frontiers in Pediatrics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Favorable Effects of Octreotide in Congenital Chloride Diarrhea Associated With CKD.
Hussein MH et al.
Kidney International Reports, 2022
Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review.
Sadagah LF et al.
The American Journal of Case Reports, 2022
Acquired long QT syndrome due to antiemetics, COVID-19 and Blastocystis hominis induced exacerbation of congenital chloride losing diarrhoea.
Rajendram R et al.
Bmj Case Reports, 2022
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.
Esposito MV et al.
Diagnostics (basel, Switzerland), 2021
Congenital chloride-losing diarrhoea and Crohn's disease: a diagnostic and therapeutic challenge.
Harris RE et al.
Frontline Gastroenterology, 2021
A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.
Konishi KI et al.
Molecular Genetics & Genomic Medicine, 2020
Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.
Lindberg E et al.
Bmc Medical Genetics, 2020
Mucosal Abnormalities in Children With Congenital Chloride Diarrhea-An Underestimated Phenotypic Feature?
Kurteva E et al.
Frontiers in Pediatrics, 2020
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
Konishi KI et al.
The Journal of Pediatrics, 2019
Congenital chloride losing diarrhea: A single center experience in a highly consanguineous population.
Kamal NM et al.
Medicine, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.
Amato F et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation.
Fuwa K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
Al-Shamsi A et al.
Sultan Qaboos University Medical Journal, 2014
Congenital chloride diarrhea in dizygotic twins.
Seo KA et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2013
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome.
Saneian H et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2013
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.
Hong J et al.
European Journal of Pediatrics, 2013
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus.
Shamaly H et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2013
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
Ben-Rebeh I et al.
Genetic Testing and Molecular Biomarkers, 2012
Update on SLC26A3 mutations in congenital chloride diarrhea.
Wedenoja S et al.
Human Mutation, 2011
Significance of molecular testing for congenital chloride diarrhea.
Lechner S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Zlotogora J
Human Genetics, 2010
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Choi M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
SLC26A3 and congenital chloride diarrhoea.
Höglund P
Novartis Foundation Symposium, 2006
SLC26A3 mutations in congenital chloride diarrhea.
Mäkelä S et al.
Human Mutation, 2002
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.
Höglund P et al.
Human Mutation, 2001
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.
Höglund P et al.
American Journal of Human Genetics, 1998
[Congenital chloride diarrhea mimicking meconium ileus in newborn].
Krzemień G et al.
Medycyna Wieku Rozwojowego, 0