Zobrazeno 1 - 10
of 673
pro vyhledávání: '"Arif O Khan"'
Autor:
Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya T. Hagos, Wijdan Al-Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S. A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed Eddine Gallouzi, Fowzan S. Alkuraya
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Long-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible by short-read WGS. However, its utility in autosomal recessive Mendelian diseases is largely
Externí odkaz:
https://doaj.org/article/fd9de43c2bca4f7999135a735e07781d
Autor:
Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Nugud, Fatima Sarfraz, Hiba Janbaz, Alan Taylor, Ruchi Jain, Nour Halabi, Sawsan Yaslam, Roudha Alfalasi, Shruti Shenbagam, Fatma Rabea, Martin Bitzan, Lemis Yavuz, Deena Wafadari, Hamda Abulhoul, Shiva Shankar, Munira Al Maazmi, Ruba Rizk, Zeinab Alloub, Haitham Elbashir, Mohamed O. E. Babiker, Nidheesh Chencheri, Ammar AlBanna, Meshal Sultan, Mohamed El Bitar, Safeena Kherani, Nandu Thalange, Sattar Alshryda, Roberto Di Donato, Christos Tzivinikos, Ibrar Majid, Alexandra F. Freeman, Corina Gonzalez, Arif O. Khan, Hisham Hamdan, Walid Abuhammour, Mohamed AlAwadhi, Abdulla AlKhayat, Alawi Alsheikh-Ali, Ahmad N. Abou Tayoun
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated personalized management pla
Externí odkaz:
https://doaj.org/article/35ba5f303bf24df8a72a134940d5e4d5
Autor:
Arif O Khan
Publikováno v:
Taiwan Journal of Ophthalmology, Vol 13, Iss 4, Pp 540-542 (2023)
Axenfeld–Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes FOXC1 or PITX2. Microcornea with myopic chorioretinal atrophy, a less com
Externí odkaz:
https://doaj.org/article/63d25fbdd3994fa181f4fd84adff6eee
Autor:
Sushmita Kaushik, Suneeta Dubey, Sandeep Choudhary, Ria Ratna, Surinder S Pandav, Arif O Khan
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2293-2303 (2022)
Childhood glaucoma is a treatable cause of blindness, provided it is recognized, diagnosed, and treated in time. WHO has estimated that it is responsible for Blind Years second only to cataracts. The fundamental pathophysiology of all childhood glauc
Externí odkaz:
https://doaj.org/article/737a4371c2d746e9a50693ea70077f06
Autor:
Hande Aypek, Christoph Krisp, Shun Lu, Shuya Liu, Dominik Kylies, Oliver Kretz, Guochao Wu, Manuela Moritz, Kerstin Amann, Kerstin Benz, Ping Tong, Zheng-mao Hu, Sulaiman M. Alsulaiman, Arif O. Khan, Maik Grohmann, Timo Wagner, Janina Müller-Deile, Hartmut Schlüter, Victor G. Puelles, Carsten Bergmann, Tobias B. Huber, Florian Grahammer
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 9 (2022)
The glomerular filtration barrier (GFB) produces primary urine and is composed of a fenestrated endothelium, a glomerular basement membrane (GBM), podocytes, and a slit diaphragm. Impairment of the GFB leads to albuminuria and microhematuria. The GBM
Externí odkaz:
https://doaj.org/article/2fa6961a903741d5b870d3064e298757
Autor:
Arif O. Khan, Lama AlAbdi, Nisha Patel, Rana Helaby, Mais Hashem, Firdous Abdulwahab, Fahad B. AlBadr, Fowzan S. Alkuraya
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract 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 t
Externí odkaz:
https://doaj.org/article/0cde31f3a05a41c4abd0009859249b08
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
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Objective Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is known to be caused by mutations in KIF21A or TUBB3 or other known genes (SALL4, CHN1, HOXA1). However, affected children may harbor other genetic defects. Therefore,
Externí odkaz:
https://doaj.org/article/8db5309e3fbc4b679aed28169ceac2ef
Autor:
Arif O. Khan
Publikováno v:
Ophthalmic Genetics. :1-3
Publikováno v:
Human Genetics. 142:139-144
Oculocutaneous albinism (OCA) is a group of Mendelian disorders characterized by hypopigmentation of skin, hair and pigmented ocular structures. While much of the genetic heterogeneity of OCA has been resolved, many patients still lack a molecular di