Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Lama Al-Abdi"'
Autor:
Moustafa S. Magliyah, Faisal Almarek, Sawsan R. Nowilaty, Lama Al-Abdi, Fowzan S. Alkuraya, Mohammed Alowain, Patrik Schatz, Talal Alfaadhel, Arif O. Khan, Sulaiman M. Alsulaiman
Publikováno v:
Retina. 43:498-505
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1da3b43c94d6d4176a93beae6de089e
https://doi.org/10.1097/iae.0000000000003691
https://doi.org/10.1097/iae.0000000000003691
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:
Anuradha Ganesh, Fathiya Al Murshedi, Niema Ibrahim, Lama Al-Abdi, Rana Helaby, Alaa Elmanzalawy, Fowzan S. Alkuraya, Nisha Patel, Asila Al Habsi
Publikováno v:
Human Genetics. 139:615-622
Myelin pathologies are an important cause of multifactorial, e.g., multiple sclerosis, and Mendelian, e.g., leukodystrophy, neurological disorders. CNP encodes a major component of myelin and its CNS expression is exclusive to myelin-forming oligoden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6487baf17e9e06d5cdc8c0e0be4c30a
https://doi.org/10.1007/s00439-020-02144-4
https://doi.org/10.1007/s00439-020-02144-4
Autor:
Isaiah K Mensah, Christopher J. Petell, Sarah McGovern, Lama Al-Abdi, Allison B Norvil, Humaira Gowher, Ming He
Publikováno v:
NAR Cancer
In mammals, DNA methyltransferases DNMT1 and DNMT3’s (A, B and L) deposit and maintain DNA methylation in dividing and nondividing cells. Although these enzymes have an unremarkable DNA sequence specificity (CpG), their regional specificity is regu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f462d7061627c1a087cf9df6e9aa7cd
http://europepmc.org/articles/PMC8634572
http://europepmc.org/articles/PMC8634572
Autor:
Sadik Oner, Betul Pir, Felix Hoffmann, Betul Altunkaynak, Karsten Boldt, Xiaoyu Peng, Fowzan S. Alkuraya, Sebiha Cevik, Ying Cao, Asli Karaman, Lama Al-Abdi, Marius Ueffing, Franziska Woerz, Ferhan Yenisert, Ranad Shaheen, Miray Cakiroglu, Mustafa S. Pir, Atiyye Zorluer, Oktay I. Kaplan, Tina Beyer
The term “ciliopathy” refers to a group of over 35 rare disorders characterized by defective cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis hypoplasia, polydactyly, and retinopathy. Even though many genes h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63a6f3e4894f80172c7bc15dca3f1880
https://doi.org/10.21203/rs.3.rs-622797/v1
https://doi.org/10.21203/rs.3.rs-622797/v1
Autor:
Fahad B Albadr, Fowzan S. Alkuraya, Lama Al-Abdi, Arif O. Khan, Nisha Patel, Rana Helaby, Firdous Abdulwahab, Mais Hashem
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Purpose Stickler syndrome is a collagenopathy that is typically COL2A1‐related (autosomal dominant) and less commonly related to other collagen gene mutations. Diagnosis is straightforward when a child has myopia or retinal detachment in the settin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee15c412557f5158f05374e8a79964ae
https://pubmed.ncbi.nlm.nih.gov/33951325
https://pubmed.ncbi.nlm.nih.gov/33951325
Autor:
Alison Kraus, Arif O. Khan, Fanny Thuriot, Fowzan S. Alkuraya, Fabiola Ceroni, Wayne S. Sossin, Nicola K. Ragge, Rana Helaby, Carole A. Farah, Sébastien Lévesque, Richard J. Holt, Congyao Zha, Lama Al-Abdi
Publikováno v:
Hum Mol Genet
Microphthalmia, coloboma and cataract are part of a spectrum of developmental eye disorders in humans affecting ~12 per 100 000 live births. Currently, variants in over 100 genes are known to underlie these conditions. However, at least 40% of affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de5ffeada4647234ff5d08344e7f2d5
https://hdl.handle.net/11585/808292
https://hdl.handle.net/11585/808292
Autor:
Moeen Al-Sayed, Peter E.M. Taschner, Lihadh Al-Gazali, May Alrashed, Arif O. Khan, Amal Alhashem, Zuhair Rahbeeni, Shamsa Al-Anazi, Zuhair N. Al-Hassnan, Selwa A.F. Al-Hazzaa, Jawahir Y. Mohamed, Mais Hashem, Mushari Alamr, Eissa Faqeih, Mugtaba O Sirelkhatim, Lama Al-Abdi, Ahmad Al-Salem, Hisham Alkuraya, Sami Wali, Leen Abu-Safieh, Basim Alkuraya, Fowzan S. Alkuraya, Ameen Softah
Publikováno v:
European Journal of Human Genetics, 20(4), 420-427
Bardet-Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable genetic heterogeneity that characterizes this disease is consistent with accumulating data on the interaction between the proteins encoded by the 14 BBS genes ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1c5e3195f4ce0b38dbcefe590b61108
https://doi.org/10.1038/ejhg.2011.205
https://doi.org/10.1038/ejhg.2011.205
Autor:
Fowzan S. Alkuraya, Jawahir Y. Mohamed, Lama Al-Abdi, Mohammed A. Aldahmesh, Arif O. Khan, Mais Hashem, Ismael S Al-Ghamdi
Publikováno v:
Ophthalmic Genetics. 32:138-142
Purpose: To characterize the underlying genetic defect in otherwise healthy Saudi newborns with buphthalmos, including those with iris abnormalities.Methods: Prospective case series of affected Saudi Arabian probands who were referred for genetic cou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8288dc8a7c84b0f65f8c9a0083ff1f9b
https://doi.org/10.3109/13816810.2010.544365
https://doi.org/10.3109/13816810.2010.544365
Autor:
Selwa A.F. Al-Hazzaa, Malik Nassan, Zuhair Rahbeeni, May Alrashed, Mohammed Al-Owain, Zuhair N. Al-Hassnan, Ahmed Shamia, Abdullah S. Al-Kharashi, Emad B. Abboud, Mohammed-Adeeb Sebai, Lama Al-Abdi, Mais Hashem, Hisham Alkuraya, Arif O. Khan, Leen Abu-Safieh, Saad Waheeb, Shamsa Anazi, Mohamed D. Ray-Zack, Jawahir Al-Zahrani, Salwa Al-Tarimi, Fowzan S. Alkuraya
Publikováno v:
Genome research. 23(2)
Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and alle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d589b5868b61a727fe1752bb68992daa
https://pubmed.ncbi.nlm.nih.gov/23105016
https://pubmed.ncbi.nlm.nih.gov/23105016