Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Mohamed H Al-Hamed"'
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 19-25 (2018)
Human kidneys serve important physiological functions in the body. There is an increasing evidence suggesting that the majority of renal diseases have an underlying genetic component. At least 40 genes have been shown to be involved in kidney develop
Externí odkaz:
https://doaj.org/article/deec20fe05ed402fb579a045bd5524cb
Autor:
Mohamed H. Al-Hamed, Faiqa Imtiaz, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Mohamed S. Alamoudi, Eissa Faqeih, Majid Alfadhel, Ali Al-Asmari, M.M. Saleh, Fuad Almutairi, Nabil Moghrabi, Moeenaldeen AlSayed
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 22-29 (2019)
Propionic acidemia (PA) is an autosomal recessive metabolic disorder. PA is characterized by deficiency of the mitochondrial enzyme propionyl CoA carboxylase (PCC) that results in the accumulation of propionic acid. Alpha and beta subunits of the PCC
Externí odkaz:
https://doaj.org/article/e4d3b555004a4155984385b9f00e4931
Autor:
Farrukh Sheikh, Huda Alajlan, Maram Albanyan, Hibah Alruwaili, Fatimah Alawami, Safia Sumayli, Sulaiman Al Gazlan, Sawsan Abu Awwad, Hasan Al-Dhekri, Bandar Al-Saud, Rand Arnaout, Hassan Alrayes, Najla Sayes, Mohamed H. Al-Hamed, Hamoud Al-Mousa, Saad AlShareef, Anas M. Alazami
Publikováno v:
Journal of Clinical Immunology. 43:479-484
Hereditary angioedema (HAE) is a potentially life-threatening autosomal dominant disorder affecting roughly 1:50,000 individuals. It is commonly characterized by swelling of the larynx, gastrointestinal tract, extremities, and skin. There is growing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4314869d834ece06752e1eba8c1ee69c
https://doi.org/10.1007/s10875-022-01399-y
https://doi.org/10.1007/s10875-022-01399-y
Autor:
Maged H. Hussein, Fahad Alsohaibani, Abdulaziz Alrubaysh, Mohamed H. Al-Hamed, Mohamad S. Alabdaljabar, Asad Ullah
Publikováno v:
Kidney International Reports. 7:2112-2115
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7e43a3265dac9914f2f41c7bebe3690
https://doi.org/10.1016/j.ekir.2022.06.004
https://doi.org/10.1016/j.ekir.2022.06.004
Autor:
Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I. Tahir, Nouf S. Al-Numair, Mohamed H. Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 17-23 (2017)
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi
Externí odkaz:
https://doaj.org/article/3737df0c637345fc8702c25f3271d363
Autor:
Lama Al-Abdi, Mohamed H Al-Hamed, Rana Helaby, Faiqa Imtiaz, Shatha Alrashseed, Ahood Alsulaiman, Fowzan S. Alkuraya
Publikováno v:
Genetics in Medicine. 23:2448-2454
Consanguineous couples are typically counseled based on familial pathogenic variants identified in affected children. The residual risk for additional autosomal recessive (AR) variants, however, remains largely understudied. First, we surveyed pedigr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af105a83b33302c7c523e55decef2b8d
https://doi.org/10.1038/s41436-021-01289-5
https://doi.org/10.1038/s41436-021-01289-5
Autor:
Nada Derar, John A. Sayer, Khushnooda Ramzan, Gawaher Almutairi, Bashayer Saeed, Hanifa Bukhari, Nora Almuhana, Rubina Khan, Laila Alquayt, Maha Tulbah, Rafiullah Rafiullah, Maisoon Almugbel, Saja S Alamri, Dorota Monies, Faiqa Imtiaz, Asma Akilan, Abrar AlKhalifah, Mirna Assoum, Rana Akili, Fahad Hakami, Samia AlDawoud, Wardah AlMubarak, Zuhair Rahbeeni, Afaf Al-Otaibi, Amal AlShammasi, Wesam Kurdi, Samia Hagos, Maha Alnemer, Nada Alsahan, Hadeel Elbardisy, Wafaa Ali, Mohannad Ali, Mohamed Abouelhoda, Mohamed H Al-Hamed, Zeeshan Shah
Publikováno v:
Human Genetics. 141:101-126
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62727c75f16b3614a697df65b5799d2b
https://doi.org/10.1007/s00439-021-02406-9
https://doi.org/10.1007/s00439-021-02406-9
Autor:
Ian J. Wilson, Mohammed S. Al Riyami, Khawla A Rahim, Eric Olinger, Elisa Molinari, Laura Powell, Miguel Barroso-Gil, Abdulrahman Al-Hussaini, Naif A.M. Almontashiri, Shirlee Shril, John A. Sayer, Mohamed H Al-Hamed, Friedhelm Hildebrandt, Intisar Al Alawi, Colin G. Miles, Isa Al Salmi, Eissa Ali Faqeih
Publikováno v:
Hum Mutat
Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation. By candidate gene curation of WES data, combined with homozy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acafb70264bfe00a165f44e4cacb7593
https://doi.org/10.1002/humu.24251
https://doi.org/10.1002/humu.24251
Autor:
Mohamed H. Al-Hamed, John A. Sayer, Nada Alsahan, Noel Edwards, Wafaa Ali, Maha Tulbah, Faiqa Imtiaz
Publikováno v:
Genes; Volume 13; Issue 10; Pages: 1687
The use of next-generation sequencing (NGS) has helped in identifying many genes that cause congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT, and its association wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a334440735d7f13ec5687ce55afa3fac
https://pubmed.ncbi.nlm.nih.gov/36292572
https://pubmed.ncbi.nlm.nih.gov/36292572
Autor:
Mohamed H. Al‐Hamed, Norah Altuwaijri, Nada Alsahan, Wafaa Ali, Firdous Abdulwahab, Fatema Alzahrani, Nada Majrashi, Fowzan S. Alkuraya
Publikováno v:
Clinical geneticsREFERENCES. 102(1)
Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the urinary tract. Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT. Lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04c322e9972be2c633c73842f2079b93
https://pubmed.ncbi.nlm.nih.gov/35246978
https://pubmed.ncbi.nlm.nih.gov/35246978