Hereditary periodic fever syndromes

Autor: Shawky, RM, Gaboon, NEA

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 12, No 2 (2011); 117-125

Hereditary periodic fever syndromes, comprise a group of hereditary disorders with similar clinical features of recurrent short episodes of fever associated with inflammatory manifestations. These are usually self-limited in nature and occur in the a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::af9e031367af9699df3a7e54c9cb8090
https://www.ajol.info/index.php/ejhg/article/view/74619

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Autor: Sharaf-Eldin WE; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Rafat K; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Eissa NR; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Hawaary B; Pediatrics Department, Faculty of Medicine, Aswan University, Aswan, Egypt., Gaboon NEA; Medical Genetics Centre, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA, 92093, USA., Essawi ML; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt. dr_mahazaki@yahoo.com.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt. dr_mahazaki@yahoo.com.

Publikováno v: Journal of molecular neuroscience : MN [J Mol Neurosci] 2024 Oct 05; Vol. 74 (4), pp. 93. Date of Electronic Publication: 2024 Oct 05.

Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.

Autor: Gaboon NEA; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Medical Genetics Centre, Faculty of Medicine, Ain-Shams University, Cairo, Egypt., Banaganapalli B; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Nasser K; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia., Razeeth M; Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia., Alsaedi MS; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Rashidi OM; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Abdelwehab LS; Faculty of Medicine, Ain Shams University, Cairo, Egypt., Alahmadi TS; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Safdar OY; Pediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Saudi Arabia., Shaik J; Genome Research Chair, College of Science, King Saud University, Saudi Arabia., Choudhry HMZ; Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Numan HH; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia., Khan MI; Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Aama JY; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Elango R; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Shaik NA; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

Publikováno v: Saudi journal of biological sciences [Saudi J Biol Sci] 2020 Jan; Vol. 27 (1), pp. 324-334. Date of Electronic Publication: 2019 Oct 18.

Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.

Autor: Gaboon NEA; Division of Medicine, Department of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.; Division of Medicine, Medical Genetic Center, Ain Shams University, Cairo, Egypt., Bakur KH; Division of Medicine, Department of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia., Edrees AY; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia., Al-Aama JY; Division of Medicine, Department of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2017 Sep; Vol. 6 (3), pp. e1. Date of Electronic Publication: 2017 May 10.