Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Nadia, Sakati"'
Autor:
Sarah Bakhamis, Faiqa Imtiaz, Khushnooda Ramzan, Edward De Vol, Osamah Al-Sagheir, Abdulrahman Al-Rajhi, Abdullah Alashwal, Bassam Bin Abbas, Nadia Sakati, Afaf Al-Sagheir
Publikováno v:
Endocrine Connections, Vol 10, Iss 7, Pp 767-775 (2021)
Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Rece ntly, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited
Externí odkaz:
https://doaj.org/article/59ab0c0cbda948019b693dfe448cc62a
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:
Edward B. De Vol, Sarah Bakhamis, Abdulrahman Al-Rajhi, Khushnooda Ramzan, Abdullah A. Al-Ashwal, Bassam Bin Abbas, Faiqa Imtiaz, Osamah Al-Sagheir, Afaf Alsagheir, Nadia Sakati
Publikováno v:
Endocrine Connections, Vol 10, Iss 7, Pp 767-775 (2021)
Endocrine Connections
Endocrine Connections
Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Recently, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited fo
Publikováno v:
Asian Journal of Surgery, Vol 29, Iss 3, Pp 207-211 (2006)
To describe the clinical, surgical, biochemical, radiological and electrophysiological features of 43 Saudi children with persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) who have been followed since 1983. Methods: Data from 43 patients w
Externí odkaz:
https://doaj.org/article/c0f39e7c1a734a81a86ab1c5759a8edf
Autor:
Faiqa Imtiaz, Nadia Sakati, Lina Elbaik, Nouf S. Al-Numair, Khushnooda Ramzan, Mohammed Al-Owain, Selwa A.F. Al-Hazzaa, Sarah Al-Ageel
Publikováno v:
Genes
Genes, Vol 11, Iss 1474, p 1474 (2020)
Volume 11
Issue 12
Genes, Vol 11, Iss 1474, p 1474 (2020)
Volume 11
Issue 12
Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D). The en
Autor:
Fatima Al-Fadhli, Fowzan S. Alkuraya, Hanan E. Shamseldin, Nisha Patel, Salma M. Wakil, Tarfa Alshidi, Firdous Abdulwahab, Arif O. Khan, Rana Alomar, Nadia Sakati, Eman Alobeid, Ameen Softa, Mais Hashem, Dilek Colak
Publikováno v:
The American Journal of Human Genetics. 100:831-836
Larsen syndrome is characterized by the dislocation of large joints and other less consistent clinical findings. Heterozygous FLNB mutations account for the majority of Larsen syndrome cases, but biallelic mutations in CHST3 and B4GALT7 have been mor
Autor:
Tariq Masoodi, Moeen Al-Sayed, Brian F. Meyer, Mohammad Al-Owain, Nadia Sakati, Hamad Al-Zaidan, Haya Al Saud, Zuhair Rhabeeni, Yousef Binamer, Zayed S. Al-Zayed, Zuhair N. Al-Hassnan, William Wade, Ruqaiah Altassan, Nadia Alhashemi, Salma M. Wakil, Mohamed A. Al-Muhaizea, Ola Khalifa, Haya Al Dosssari
Publikováno v:
American Journal of Medical Genetics Part A. 173:1009-1016
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual
Autor:
Yusra Alyafee, Salma M. Wakil, N. Kaya, Michael Nester, Muddathir H. Hamad, Dilek Colak, Maysoon Alsagob, Ali Al-Odaib, Nadia Sakati, Mustafa A. Salih, Jawaher Al-Zahrani, Albandary Al-Bakheet
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Molecular Cytogenetics
Molecular Cytogenetics
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 high-densi
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature. Case presentation We have assessed one consanguineous Saudi
Autor:
Ola Khalifa, Khushnooda Ramzan, Nadia Sakati, M. Al Owain, Eissa Faqeih, A. Al Hemidan, Faiqa Imtiaz, Rabab Allam, Ameera Balobaid, Gheid Abuharb
Publikováno v:
American Journal of Medical Genetics Part A. 164:2601-2606
Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. Char