Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Albandary Al Bakheet"'
Autor:
Maysoon Alsagob, Mustafa A. Salih, Muddathir H. A. Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M. Wakil, Ali AlOdaib, Dilek Colak, Namik Kaya
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract 15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using h
Externí odkaz:
https://doaj.org/article/74f03fe71e934a9d8b9467422ded30d0
Autor:
Mustafa A. Salih, Muddathir H. Hamad, Marco Savarese, Ibrahim A. Alorainy, Abdullah S. Al-Jarallah, Hisham Alkhalidi, Hanan AlQudairy, Anoud Albader, Amal Jahz Alotaibi, Maysoon Alsagob, Albandary Al-Bakheet, Dilek Colak, Bjarne Udd, Namik Kaya
Publikováno v:
Genetic Testing and Molecular Biomarkers. 25:757-764
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10dd34776b6b84cac76c375a9a086b10
https://doi.org/10.1089/gtmb.2021.0085
https://doi.org/10.1089/gtmb.2021.0085
Autor:
Dilek Colak, Mazhor Al-Dosary, Hesham Aldhalaan, Namik Kaya, Maha Al-Rasheed, Maysoon Alsagob, Hadeel Jaber, Musaad Abukhalid, Hadeel Alkofide, Mohammed A. AlMuhaizea, Rawan Almass, Laila AlQuait, Albandary Al-Bakheet, Felwa Binhumaid, Hanouf Aldeeb
Publikováno v:
Annals of Human Genetics. 86:34-44
Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed moveme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bd77b7f7aeaca1e3711976331bf0c5
https://doi.org/10.1111/ahg.12445
https://doi.org/10.1111/ahg.12445
Autor:
Rawan Almass, Mohammad A. Al-Muhaizea, Shoug AlHarbi, Dilek Colak, Anoud Abdulmalik Albader, Namik Kaya, Laila AlQuait, Maha Al-Rasheed, Abdullah Alhumaidan, Afnan Alrasheed, Albandary Al-Bakheet
Publikováno v:
Neuromuscular Disorders. 30:611-615
Congenital myasthenic syndrome comprises several genetic disorders that impair neuromuscular junction transmission. Causative mutations occur in at least 30 genes, approximately 6-8% of which are presynaptic. One such gene, VAMP1, encodes vesicle-ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc1b6702dca490ee0d6387343c2050bd
https://doi.org/10.1016/j.nmd.2020.04.007
https://doi.org/10.1016/j.nmd.2020.04.007
Autor:
Robert W. Taylor, Alya Qari, Rozeena Huma, Moeenaldeen Al-Sayed, Dilek Colak, Laila AlQuait, Rawan Almass, Maysoon Alsagob, Maha Abdulrahim, Lujane Y. Al-Ahaidib, Basma Alahideb, Eman Alobeid, Tarfa Alshidi, Albandary Al-Bakheet, N. Kaya, Mazhor Al-Dosary, Zainab AlMasseri, Shahad Baselm
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
JIMD Reports
JIMD Reports
SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy, of which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d06756e7875e92bcfed9c4fb37201d
https://doi.org/10.1002/jmd2.12218
https://doi.org/10.1002/jmd2.12218
Autor:
Faten Almutairi, Tarek Mustafa Owaidah, Najmeh Ahangari, Nada Al-Ahmadi, Leslie E. Sanderson, Henry Houlden, Romulo Mombach, Mazhor Al-Dosary, Anoud Abdulmalik Albader, Banan Al-Younes, Osama M. Mustafa, Tainá Regina Damaceno Silveira, Dilek Colak, Namik Kaya, Miriam Schmidts, Hazem Ghebeh, Herma C. van der Linde, Robin Palvadeau, Aida M. Bertoli-Avella, Raghda M Sabbagh, Rawan Almass, Hesham Aldhalaan, Maryam Najafi, Bashayer Alawam, Aljouhra AlHargan, Kristina Lanko, Aljohara Alharbi, Maysoon Alsagob, Bedri Karakas, Reza Maroofian, A. Nazli Basak, Khalid AlAhmadi, Ali Al-Odaib, Arndt Rolfs, Mohammad A. Al-Muhaizea, Elena Perenthaler, Najim Ameziane, Dinu Antony, Futwan Al-Mohanna, Albandary Al-Bakheet, Faisal S. BinHumaid, Anita Nikoncuk, Nikolas A Kühn, Dorota Monies, Ehsan Ghayoor Karimiani, Hamad Al-Zaidan, Tjakko J. van Ham, Ewa Goljan, Luana Gabriela Dalla Rosa Vieira, Jill A. Rosenfeld, Salmo Raskin, Dürdane Aksoy, Brian F. Meyer, Tahsin Stefan Barakat, Daniah Trabzuni, Stefan T. Arold
Publikováno v:
Brain, 144(3), 769-780. Oxford University Press
Brain
Brain
Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3829cf3b4e450f526ad567f2a5f9dda5
https://pure.eur.nl/en/publications/e4916caa-5909-4a69-8c0c-11eb8621c0a0
https://pure.eur.nl/en/publications/e4916caa-5909-4a69-8c0c-11eb8621c0a0
Autor:
Abdulmajeed AlDrees, Jumanah Al-Sufayan, Albandary Al-Bakheet, Salah A. Elmalik, Ibrahim A. Alorainy, Mohammed Zain Seidahmed, Dilek Colak, Namik Kaya, Ibrahim M. Ghozzi, Muddathir H. Hamad, Mustafa A. Salih
Publikováno v:
BMC Neurology
BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)
BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)
Background Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c5e1d242fc34c7e335c4a179becd38
https://doi.org/10.1186/s12883-020-01761-w
https://doi.org/10.1186/s12883-020-01761-w
Autor:
Zuhair N. Al-Hassnan, Maysoon Alsagob, Mustafa Bulbul, Muhammad Faiyaz-Ul-Haque, Majid Alfadhel, Banan Al-Younes, Dilek Colak, Zuhair Rahbeeni, Aziza Chedrawi, Namik Kaya, Osama M. Mustafa, Mustafa A. Salih, Mazhor Al-Dosary, Moeenaldeen Al-Sayed, Mohammad A. Al-Muhaizea, Mohammed Aldosari, Laila AlQuait, Ali Al-Odaib, Albandary Al-Bakheet, Mohammad Azhar Chishti, Hesham Aldhalaan, Rawan Almass, Mai AlShammari, Olfat Al-Harazi, Hamad Al-Zaidan
Publikováno v:
Omics : a journal of integrative biology. 24(3)
Rett syndrome (RTT) is a severe neurodevelopmental disorder reported worldwide in diverse populations. RTT is diagnosed primarily in females, with clinical findings manifesting early in life. Despite the variable rates across populations, RTT has an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb221aba9da3ffabc0d48eb57b4f47d
https://pubmed.ncbi.nlm.nih.gov/32105570
https://pubmed.ncbi.nlm.nih.gov/32105570
Autor:
Huda H Al-Khalaf, Dilek Colak, Maher Al-Saif, Albandary Al-Bakheet, Siti-Faujiah Hendrayani, Nujoud Al-Yousef, Namik Kaya, Khalid S Khabar, Abdelilah Aboussekhra
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e21111 (2011)
BackgroundThe cyclin-D/CDK4,6/p16(INK4a)/pRB/E2F pathway, a key regulator of the critical G1 to S phase transition of the cell cycle, is universally disrupted in human cancer. However, the precise function of the different members of this pathway and
Externí odkaz:
https://doaj.org/article/d7f9ff83f9be405ab2aa0df2055b4300
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