Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Nada, AlSahan"'
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:
Mohamed H. Al-Hamed, John A. Sayer, Nada Alsahan, Noel Edwards, Wafaa Ali, Maha Tulbah, Faiqa Imtiaz
Publikováno v:
Genes; Volume 13; Issue 10; Pages: 1687
The use of next-generation sequencing (NGS) has helped in identifying many genes that cause congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT, and its association wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a334440735d7f13ec5687ce55afa3fac
https://pubmed.ncbi.nlm.nih.gov/36292572
https://pubmed.ncbi.nlm.nih.gov/36292572
Autor:
Mohamed H. Al‐Hamed, Norah Altuwaijri, Nada Alsahan, Wafaa Ali, Firdous Abdulwahab, Fatema Alzahrani, Nada Majrashi, Fowzan S. Alkuraya
Publikováno v:
Clinical geneticsREFERENCES. 102(1)
Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the urinary tract. Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT. Lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04c322e9972be2c633c73842f2079b93
https://pubmed.ncbi.nlm.nih.gov/35246978
https://pubmed.ncbi.nlm.nih.gov/35246978
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:
Eyad Almidani, Abdulaziz Binmanee, Nada Alsahan, Saria Alazmeh, Abdullatif Barkoumi, Saleh Al Aliyan, Mohammed Bin Jabr, Fahad Al-Hazzani, Abdulhakiem Kattan, Weam Elsaidawi
Publikováno v:
Cureus
Introduction A meta-analysis showed that 63.6% of the Saudi population have vitamin D deficiency, including many pregnant women. Studies showed that maternal vitamin D deficiency during pregnancy is a risk factor for low birth weight (LBW) in neonate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a49cdf6444d79c656b5213dc081bf9e
https://doi.org/10.7759/cureus.14528
https://doi.org/10.7759/cureus.14528
Autor:
Fowzan S. Alkuraya, Nada Alsahan
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7046d68f0a0ce1bd72982255f39faa71
https://pubmed.ncbi.nlm.nih.gov/32573025
https://pubmed.ncbi.nlm.nih.gov/32573025
Autor:
Mohamed H Al-Hamed, John A. Sayer, Qamariya Ambusaidi, Wafaa Ali, Faiqa Imtiaz, Wesam Kurdi, Nada Alsahan, Maha Tulbah
Publikováno v:
Journal of nephrology. 34(3)
Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other structures of the urinary tract. The majority of CAKUT are asymptomatic and are diagnosed prenatally by ultrasound
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40ec64f53e4cfbf4f8e5447b482e2add
https://pubmed.ncbi.nlm.nih.gov/32643034
https://pubmed.ncbi.nlm.nih.gov/32643034
Autor:
Alya Alkaff, Wafaa Eyaid, Nada Alsahan, Rubina Khan, Niema Meriki, Yasser Alsaber, Saeed Al Tala, Mohamed Zain Seidahmed, Fatima Almusafri, Firdous Abdulwahab, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Mariam Al Mulla, Hanan E. Shamseldin, Zeneb A. Babay, Eissa Faqeih, Ahmed Kurdi, Elham Al Mardawi, Karen El-Akouri, Ola Khalifa, Ranad Shaheen, Wesam Kurdi, Nour Ewida, Sebahattin Cirak, Eman Alobeid, Alya Qari, Zuhair Rahbeeni, Matthias Pergande, Maha Alnemer, Maha Tulbah, Bahauddin Sallout, Tarfa Alshidi, Amal Alhashem, Niema Ibrahim, Mais Hashem
Publikováno v:
Genetics in Medicine. 20:420-427
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ac4675b661434f7cd7e50ac6fca273
https://doi.org/10.1038/gim.2017.111
https://doi.org/10.1038/gim.2017.111
Autor:
Maha Tulbah, Wesam Kurdi, John A. Sayer, Mohamed H Al-Hamed, Nada Alsahan, Qaamariya Ambosaidi
Publikováno v:
Clinical Kidney Journal
Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disease affecting renal development before birth. RTD is manifested by anuria and severe hypotension resulting in oligohydramnios and birth defects known as Potter's syndrome. Homozy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d38174d0b2d8318298e65b803c7294d7
https://doi.org/10.1093/ckj/sfw057
https://doi.org/10.1093/ckj/sfw057