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Ali S. Alzahrani
Johns Hopkins University
83Publications
23H-index
1,700Citations
Publications 86
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#1Ayşe Nurcan Cebeci (Istanbul Bilim University)
#2Minjing ZouH-Index: 24
Last.Yufei ShiH-Index: 26
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Last.Ali S. AlzahraniH-Index: 23
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About 30%–40% of patients with pheochromocytoma (PCC) and paraganglioma (PGL) have underlying germline mutations in certain susceptibility genes despite absent family history of these tumors. Here, we present mutational profile of 101 such patients with PCC/PGL (PPGL) from the highly consanguineous population of Saudi Arabia. Results: Of 101 cases with PPGL, 37/101 (36.6%) had germline mutations. Mutations were detected in 30 cases by PCR and direct Sanger sequencing and in 7 additional cases by...
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#1Korcan Demir (Dokuz Eylül University)H-Index: 11
#2Minjing ZouH-Index: 24
Last.Yufei ShiH-Index: 26
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ABSTRACT Context: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder and is caused by mutations in the vitamin D receptor gene (VDR), leading to end-organ resistanc...
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#1R. Michael Tuttle (MSK: Memorial Sloan Kettering Cancer Center)H-Index: 58
#2Ali S. AlzahraniH-Index: 23
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Abstract Background Thyroid cancer is the second most common cancer affecting Saudi women after breast cancer, with papillary thyroid carcinoma (PTC) accounting for 80–90% of thyroid cancers. DNA methyltransferases affect DNA methylation, and it is thought that they play an important role in the malignant transformation of various cancers. Methods We sought to evaluate the frequency of DNA methyltransferase 3A (DNMT3A) alterations in a large cohort of >1000 PTC cases using exome sequencing, capt...
1 CitationsSource
#1Ali S. AlzahraniH-Index: 23
Last.Hindi Al-HindiH-Index: 9
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#2Ebtesam QasemH-Index: 7
Last.Ali S. AlzahraniH-Index: 23
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// Avaniyapuram Kannan Murugan 1 , Ebtesam Qasem 1 , Hindi Al-Hindi 2 and Ali S. Alzahrani 1 , 3 1 Division of Molecular Endocrinology, Department of Molecular Oncology, Riyadh 11211, Saudi Arabia 2 Department of Pathology and Laboratory Medicine, Riyadh 11211, Saudi Arabia 3 Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia Correspondence to: Ali S. Alzahrani, email: aliz@kfshrc.edu.sa Keywords: thyroid cancer; mutations; PTEN; oncogene; PIK...
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#2Ohoud S. AlzahraniH-Index: 1
Last.Ali S. AlzahraniH-Index: 23
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Context and objectives 5-α reductase deficiency is a rare 46,XY disorder of sex development. We present detailed phenotypic and genotypic features of a cohort of 24 subjects from a highly consanguineous population of Saudi Arabia
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