Search Results - "Alsahan, Nada"

Confirming TBC1D32‐related ciliopathy in humans by Alsahan, Nada, Alkuraya, Fowzan S.

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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes by Al-Hamed, Mohamed H., Kurdi, Wesam, Khan, Rubina, Tulbah, Maha, AlNemer, Maha, AlSahan, Nada, AlMugbel, Maisoon, Rafiullah, Rafiullah, Assoum, Mirna, Monies, Dorota, Shah, Zeeshan, Rahbeeni, Zuhair, Derar, Nada, Hakami, Fahad, Almutairi, Gawaher, AlOtaibi, Afaf, Ali, Wafaa, AlShammasi, Amal, AlMubarak, Wardah, AlDawoud, Samia, AlAmri, Saja, Saeed, Bashayer, Bukhari, Hanifa, Ali, Mohannad, Akili, Rana, Alquayt, Laila, Hagos, Samia, Elbardisy, Hadeel, Akilan, Asma, Almuhana, Nora, AlKhalifah, Abrar, Abouelhoda, Mohamed, Ramzan, Khushnooda, Sayer, John A., Imtiaz, Faiqa

“…Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis…”
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Lethal variants in humans: lessons learned from a large molecular autopsy cohort by Shamseldin, Hanan E, AlAbdi, Lama, Maddirevula, Sateesh, Alsaif, Hessa S, Alzahrani, Fatema, Ewida, Nour, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S

“…Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved…”
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Molecular autopsy in maternal–fetal medicine by Shamseldin, Hanan E, Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, Alkuraya, Fowzan S

“…Purpose The application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe…”
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Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families by Shamseldin, Hanan E, Tulbah, Maha, Kurdi, Wesam, Nemer, Maha, Alsahan, Nada, Al Mardawi, Elham, Khalifa, Ola, Hashem, Amal, Kurdi, Ahmed, Babay, Zainab, Bubshait, Dalal K, Ibrahim, Niema, Abdulwahab, Firdous, Rahbeeni, Zuhair, Hashem, Mais, Alkuraya, Fowzan S

“…Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona…”
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Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families by Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ambusaidi, Qamariya, Ali, Wafaa, Imtiaz, Faiqa

“…Introduction Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other structures…”
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A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis by Al‐Hamed, Mohamed H., Altuwaijri, Norah, Alsahan, Nada, Ali, Wafaa, Abdulwahab, Firdous, Alzahrani, Fatema, Majrashi, Nada, Alkuraya, Fowzan S.

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the…”
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Missense Variants in IGFRA1/I and INPNT/I Are Associated with Congenital Anomalies of the Kidney and Urinary Tract by Al-Hamed, Mohamed H, Sayer, John A, Alsahan, Nada, Edwards, Noel, Ali, Wafaa, Tulbah, Maha, Imtiaz, Faiqa

“…The use of next-generation sequencing (NGS) has helped in identifying many genes that cause congenital anomalies of the kidney and urinary tract (CAKUT)…”
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Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families by Al-Hamed, Mohamed H., Alsahan, Nada, Rice, Sarah J., Edwards, Noel, Nooreddeen, Eman, Alotaibi, Maha, Kurdi, Wesam, Alnemer, Maha, Altaleb, Naderah, Ali, Wafa, Al-Numair, Nouf, Almejaish, Najd, Sayer, John A., Imtiaz, Faiqa

“…Background Polycystic kidney disease (PKD) is one of the most common genetic renal diseases and may be inherited in an autosomal dominant or autosomal…”
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Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract by Al-Hamed, Mohamed H, Sayer, John A, Alsahan, Nada, Edwards, Noel, Ali, Wafaa, Tulbah, Maha, Imtiaz, Faiqa

“…The use of next-generation sequencing (NGS) has helped in identifying many genes that cause congenital anomalies of the kidney and urinary tract (CAKUT)…”
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Identification of a novel MKS locus defined by TMEM107 mutation by Shaheen, Ranad, Almoisheer, Agaadir, Faqeih, Eissa, Babay, Zainab, Monies, Dorota, Tassan, Nada, Abouelhoda, Mohamed, Kurdi, Wesam, Al Mardawi, Elham, Khalil, Mohamed M I, Seidahmed, Mohammed Zain, Alnemer, Maha, Alsahan, Nada, Sogaty, Samira, Alhashem, Amal, Singh, Ankur, Goyal, Manisha, Kapoor, Seema, Alomar, Rana, Ibrahim, Niema, Alkuraya, Fowzan S

“…Meckel-Gruber syndrome (MKS) is a perinatally lethal disorder characterized by the triad of occipital encephalocele, polydactyly and polycystic kidneys…”
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Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel by Al-Hamed, Mohamed H, Kurdi, Wesam, Alsahan, Nada, Alabdullah, Zainab, Abudraz, Rania, Tulbah, Maha, Alnemer, Maha, Khan, Rubina, Al-Jurayb, Haya, Alahmed, Ahmed, Tahir, Asma I, Khalil, Dania, Edwards, Noel, Al Abdulaziz, Basma, Binhumaid, Faisal S, Majid, Salma, Faquih, Tariq, El-Kalioby, Mohamed, Abouelhoda, Mohamed, Altassan, Nada, Monies, Dorota, Meyer, Brian, Sayer, John A, Albaqumi, Mamdouh

“…Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure…”
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Maternal Vitamin D Levels and Its Correlation With Low Birth Weight in Neonates: A Tertiary Care Hospital Experience in Saudi Arabia by Almidani, Eyad, Barkoumi, Abdullatif, Elsaidawi, Weam, Al Aliyan, Saleh, Kattan, Abdulhakiem, Alhazzani, Fahad, Bin Jabr, Mohammed, Binmanee, Abdulaziz, Alsahan, Nada, Alazmeh, Saria

“…Introduction A meta-analysis showed that 63.6% of the Saudi population have vitamin D deficiency, including many pregnant women. Studies showed that maternal…”
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Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94 by Al-Hamed, Mohamed H, Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ali, Wafa'a, Sayer, John A, Imtiaz, Faiqa

“…Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by…”
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Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family by Al-Hamed, Mohamed H., Kurdi, Wesam, Alsahan, Nada, Ambosaidi, Qaamariya, Tulbah, Maha, Sayer, John A.

“…Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disease affecting renal development before birth. RTD is manifested by anuria and severe…”
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Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family by Al-Hamed, Mohamed H, Kurdi, Wesam, Alsahan, Nada, Ambosaidi, Qaamariya, Tulbah, Maha, Sayer, John A

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