Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Hamad Al-Zaidan"'
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:
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:
Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan
Publikováno v:
Genes, Vol 9, Iss 5, p 267 (2018)
Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next generation sequencing (NGS) platforms, such as target panel-based sequencing, has enabled comprehens
Externí odkaz:
https://doaj.org/article/2a07d7b996bd492e89de5f29ef25e129
Autor:
Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen
Publikováno v:
Clinical and Developmental Immunology, Vol 2010 (2010)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a vari
Externí odkaz:
https://doaj.org/article/757803aabe25471397ca63c8130f9b18
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 91-96 (2021)
JIMD Reports
JIMD Reports
Succinyl‐CoA:3‐ketoacid CoA transferase (SCOT) deficiency is an inherited metabolic disease caused by mutated OXCT1 gene resulting in recurrent ketoacidosis. Analysis of longitudinal data in such an ultra‐rare disease is warranted to delineate
Autor:
Zainab Al Masseri, Danny E. Miller, Angela E. Lin, Fowzan S. Alkuraya, Colby T. Marvin, Deborah A. Nickerson, Clara C. Hildebrandt, Pedro A. Sanchez-Lara, John M. Graham, Hamad Al-Zaidan, Katheryn Grand, Nisha Patel, Janson White, Michael J. Bamshad, Daniela N. Schweitzer
Publikováno v:
American Journal of Medical Genetics Part A. 185:2136-2149
Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected persons, by biallelic pathogenic variants in SCARF2. We review the type and frequency of the c
Autor:
Abdullah S. Al-Kharashi, Ahmed M. Abu El-Asrar, Emad B. Abboud, Bandar Alamro, Fowzan S. Alkuraya, Ramadan Alturki, Rana Helaby, Niema Ibrahim, Bandar Al Ghamdi, Hisham Alkuraya, Nisha Patel, Mohammed D. Alotaibi, Sawsan R. Nowilaty, Abdulrahman Al-Hussaini, Sulaiman M. Alsulaiman, Amani Elshaer, Zainab Almasseri, Hamad Al-Zaidan, Naif A.M. Almontashiri, Wafaa Eyaid
Publikováno v:
Clinical Genetics. 97:447-456
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and
Autor:
Angelika Rieß, Shabab B. Hannan, Hessa S. Alsaif, Tadahiro Mitani, Ghassan Balousha, Siddharth Banka, Kendall C. Parks, Reza Azizi Malamiri, Henry Houlden, James R. Lupski, Elliott H. Sherr, Emanuela Argilli, Joseph J. Gleeson, Osama Balousha, Jakob Admard, Thomas Nägele, Adam Jackson, Zaid Ghanim, Alistair T. Pagnamenta, Ana Velic, Sarah Dyack, Reza Maroofian, Holger Hengel, Hamad Al-Zaidan, Stefanie Schuster, Amber Begtrup, Neda Mazaheri, Helen Kingston, Stephan Ossowski, Davut Pehlivan, Ludger Schöls, Mohammad Yahya Vahidi Mehrjardi, Stefan Hauser, Tobias B. Haack, Sara MacKay, Gholamreza Shariati, Hamid Galehdari, Mathew Osmond, Nicolas Casadei, Martin Fleger, Sevcan Tug Bozdogan, Andreas Kurringer, Ulrich A. Schatz, Boris Macek, Fowzan S. Alkuraya, Mohammadreza Dehghani
Publikováno v:
American journal of human genetics, vol 108, iss 6
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024
Summary BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b3a8a3a40ba3c0e4b68246c46199e4
https://escholarship.org/uc/item/7rn0f207
https://escholarship.org/uc/item/7rn0f207
Autor:
Alya Qari, Hamad Al-Zaidan, John A. Sayer, Maged H. Hussein, Faiqa Imtiaz, Lina Al‐Baik, Mohamed H Al-Hamed
Publikováno v:
Clinical Kidney Journal
Autor:
Ola Khalifa, Hachemi Nezzar, Mohammed Al-Owain, Bedour S Handoom, Zahra Al Sahlawi, Abdelmoneim Eldali, Maged H. Hussein, Zuhair Rahbeeni, Raashda A Sulaiman, Hamad Al-Zaidan, Moeen Al-Sayed, Iftetah Al Homoud, Joyce N. Mbekeani, Brian Altonen, Zuhair N. Al-Hassnan
Publikováno v:
Ophthalmic Genetics. 40:313-322
Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic neuropathy have been reported. The prevalence of optic neuropathy in visually asymptom