Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Nada Derar"'
Autor:
Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa AlSheddi, Eman AlObeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-21 (2020)
Abstract Background At least 50% of patients with suspected Mendelian disorders remain undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding variants that are not captured by WES contribute to this fraction is unclear. Wh
Externí odkaz:
https://doaj.org/article/052ae740d08a4962859a648a9b6078b5
Autor:
Hanan E. Shamseldin, Nada Derar, Hamad Alzaidan, Naif AlHathal, Abdullah Alfalah, Firdous Abdulwahab, Tariq Alzaid, Salim Alkeraye, Saud A. Alobaida, Fowzan S. Alkuraya
Publikováno v:
Human Genetics. 142:477-482
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6c832901f62b824c6dd33909a90d70f
https://doi.org/10.1007/s00439-023-02527-3
https://doi.org/10.1007/s00439-023-02527-3
Autor:
Nada Derar, John A. Sayer, Khushnooda Ramzan, Gawaher Almutairi, Bashayer Saeed, Hanifa Bukhari, Nora Almuhana, Rubina Khan, Laila Alquayt, Maha Tulbah, Rafiullah Rafiullah, Maisoon Almugbel, Saja S Alamri, Dorota Monies, Faiqa Imtiaz, Asma Akilan, Abrar AlKhalifah, Mirna Assoum, Rana Akili, Fahad Hakami, Samia AlDawoud, Wardah AlMubarak, Zuhair Rahbeeni, Afaf Al-Otaibi, Amal AlShammasi, Wesam Kurdi, Samia Hagos, Maha Alnemer, Nada Alsahan, Hadeel Elbardisy, Wafaa Ali, Mohannad Ali, Mohamed Abouelhoda, Mohamed H Al-Hamed, Zeeshan Shah
Publikováno v:
Human Genetics. 141:101-126
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62727c75f16b3614a697df65b5799d2b
https://doi.org/10.1007/s00439-021-02406-9
https://doi.org/10.1007/s00439-021-02406-9
Autor:
Ruqaiah Altassan, Raashda A. Sulaiman, Abdullah Alfalah, Waad Alwagiat, Eman Megdad, Dana Alqasabi, Bedour Handoom, Munirah Almesned, Hassan Al-Amri, Zuhair Alhassnan, Moeen-aldeen Alsayed, Hamad Alzaidan, Zuhair Rahbeeni, Nada Derar, Mohammed Al-Owain, Esam Albanyan
Publikováno v:
European journal of medical genetics. 65(11)
Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing with IMD patients, in view
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4912b4a6a3c47c8c4385a181bacea259
https://pubmed.ncbi.nlm.nih.gov/36049607
https://pubmed.ncbi.nlm.nih.gov/36049607
Autor:
Mohamed Al-Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha AlNemer, Nada AlSahan, Maisoon AlMugbel, Rafiullah Rafiullah, Mirna Assoum, Zuhair Rahbeeni, Nada Derar, Fahad Hakami, Gawaher Almutairi, Afaf AlOtaibi, Wafaa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, Bashayer Saeed, Hanifa Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, Hadeel Elbardisy, Asma Akilan, Nora Almuhana, Abrar AlKhalifah, Khushnooda Ramzan, John A. Sayer, Faiqa Imtiaz
Background Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28c479d7a38d1c84b474c12a6461390d
https://doi.org/10.21203/rs.3.rs-828519/v1
https://doi.org/10.21203/rs.3.rs-828519/v1
Autor:
Mohamed H, Al-Hamed, Wesam, Kurdi, Rubina, Khan, Maha, Tulbah, Maha, AlNemer, Nada, AlSahan, Maisoon, AlMugbel, Rafiullah, Rafiullah, Mirna, Assoum, Dorota, Monies, Zeeshan, Shah, Zuhair, Rahbeeni, Nada, Derar, Fahad, Hakami, Gawaher, Almutairi, Afaf, AlOtaibi, Wafaa, Ali, Amal, AlShammasi, Wardah, AlMubarak, Samia, AlDawoud, Saja, AlAmri, Bashayer, Saeed, Hanifa, Bukhari, Mohannad, Ali, Rana, Akili, Laila, Alquayt, Samia, Hagos, Hadeel, Elbardisy, Asma, Akilan, Nora, Almuhana, Abrar, AlKhalifah, Mohamed, Abouelhoda, Khushnooda, Ramzan, John A, Sayer, Faiqa, Imtiaz
Publikováno v:
Human genetics. 141(1)
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05f5ca1e35538c0d0a604ebde41b5b6c
https://pubmed.ncbi.nlm.nih.gov/34853893
https://pubmed.ncbi.nlm.nih.gov/34853893
Autor:
Dorota Monies, Nada Derar, Mohammed Al-Owain, Brian F. Meyer, Nabil Moghrabi, Fowzan S. Alkuraya, Zuhair N. Al-Hassnan, Mohamed Abouelhoda
Publikováno v:
Genetics in Medicine. 21:185-188
Wolf–Hirschhorn syndrome (WHS) is a genomic disorder with a recognizable dysmorphology profile caused by hemizygosity at 4p16.3. Previous attempts have failed to map the minimal critical locus to a single gene, leaving open the possibility that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de1dfbc2c54c204045ba65a7701b39cf
https://doi.org/10.1038/s41436-018-0014-8
https://doi.org/10.1038/s41436-018-0014-8
Autor:
Badr Alsaleem, Rana Helaby, Hanan E. Shamseldin, Nisha Patel, Sami Wali, Hamoud Alhebbi, Firdous Abdulwahab, Nour Ewida, Eman Alobeid, Xin Gao, Dorota Monies, Amal Alhashem, Sateesh Maddirevula, Ramzan Umarov, Maha Alqahtani, Afaf Alsagheir, Fowzan S. Alkuraya, Hiroyuki Kuwahara, Nadine Hanna, Maha AlAli, Niema Ibrahim, Fatema Alzahrani, Nada Derar, Hessa S. Alsaif, Mona M. Alenazi, Tarfa Al-Sheddi, Mais Hashem, Hatoon Al Ali
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-21 (2020)
Genome Biology
Genome Biology
Background At least 50% of patients with suspected Mendelian disorders remain undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding variants that are not captured by WES contribute to this fraction is unclear. Whole trans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506ab9823a3f6edb2d8ff7717fcd0109
https://doi.org/10.1186/s13059-020-02053-9
https://doi.org/10.1186/s13059-020-02053-9
Autor:
Nada, Derar, Zuhair N, Al-Hassnan, Mohammed, Al-Owain, Dorota, Monies, Mohamed, Abouelhoda, Brian F, Meyer, Nabil, Moghrabi, Fowzan S, Alkuraya
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(1)
Wolf-Hirschhorn syndrome (WHS) is a genomic disorder with a recognizable dysmorphology profile caused by hemizygosity at 4p16.3. Previous attempts have failed to map the minimal critical locus to a single gene, leaving open the possibility that the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::90ad688ee15258451773830410dfc3b0
https://pubmed.ncbi.nlm.nih.gov/29892088
https://pubmed.ncbi.nlm.nih.gov/29892088
Publikováno v:
Cellular Signalling. 25:981-988
We previously have shown that Ahsg, a liver glycoprotein, inhibits insulin receptor (InsR) tyrosine kinase (TK) activity and the ERK1/2 mitogenic signaling arm of insulin signaling. Here we show that Ahsg blocks insulin-stimulated GLUT4 translocation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33b04fd4c5c754c4447de700ba447157
https://doi.org/10.1016/j.cellsig.2012.12.011
https://doi.org/10.1016/j.cellsig.2012.12.011