Meshael Alswailem
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Explore the profile of Meshael Alswailem including associated specialties, affiliations and a list of published articles.
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Articles
23
Citations
143
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Recent Articles
1.
Mukhtar N, Alghamdi B, Alswailem M, Alsagheir A, Alzahrani A
Front Endocrinol (Lausanne)
. 2024 Oct;
15:1415639.
PMID: 39435356
Introduction: So far, only 11 mutations have been described as causes of familial isolated hypoparathyroidism (FIH). In this report, we describe a family with FIH but with significant elevation of...
2.
Alhamoudi K, Alswailem M, Alghamdi B, AlAshwal A, Alzahrani A
Heliyon
. 2024 Aug;
10(15):e35058.
PMID: 39157388
Background: Congenital adrenal hyperplasia (CAH) is a heterogeneous group of adrenal steroidogenesis disorders with variable degrees of glucocorticoid, mineralocorticoid and sex steroid deficiencies. gene encodes the mitochondrial cholesterol side-chain cleavage...
3.
Alzahrani A, Alswailem M, Buffet A, Alghamdi B, Alobaid L, Alsagheir O, et al.
Endocr Relat Cancer
. 2024 May;
31(8).
PMID: 38767322
In 2012, somatic EPAS1 pathogenic variants were found to cause a triad of pheochromocytoma/paragangliomas (PPGLs), polycythemia, and somatostatinoma. Since then, a limited number of studies on this subject have been...
4.
Alzahrani A, Bin Nafisah A, Alswailem M, Alghamdi B, Alsaihati B, Aljafar H, et al.
J Endocr Soc
. 2024 May;
8(6):bvae085.
PMID: 38745824
Context: Data on germline genetics of pituitary adenomas (PAs) using whole-exome sequencing (WES) are limited. Objective: This study investigated the germline genetic variants in patients with PAs using WES. Methods:...
5.
Alzahrani A, Bin Nafisah A, Alswailem M, Moria Y, Poprawski D, Al-Hindi H, et al.
Front Endocrinol (Lausanne)
. 2023 Dec;
14:1273093.
PMID: 38152133
Context: Germline succinate dehydrogenase subunit B () pathogenic variants are characteristic of familial paraganglioma (PGL) syndrome type 4. This syndrome frequently presents with abdominal PGL and has high tendency for...
6.
Mukhtar N, Alhamoudi K, Alswailem M, Alhindi H, Murugan A, Alghamdi B, et al.
Front Endocrinol (Lausanne)
. 2023 Oct;
14:1270796.
PMID: 37859987
Context: The American Thyroid Association risk stratification (ATA) and the American Joint Committee on Cancer Tumor Node Metastases (TNM) predict recurrence and mortality of differentiated thyroid cancer (DTC). and promoter...
7.
Alswailem M, Alghamdi B, AlOtaibi A, Aljomiah A, Al-Hindi H, Murugan A, et al.
J Clin Endocrinol Metab
. 2023 Mar;
108(9):e704-e711.
PMID: 36995892
Context: Diffuse sclerosing papillary thyroid cancer (DSPTC) is rare, with limited data on its molecular genetics. Objective: We studied the molecular genetics of a cohort of DSPTC. Methods: DNA was...
8.
Alhamoudi K, Alghamdi B, Alswailem M, Nasir A, Aljomaiah A, Al-Hindi H, et al.
J Clin Endocrinol Metab
. 2022 Jul;
107(10):2883-2891.
PMID: 35896147
Context: Synonymous mutations are usually nonpathogenic. Objective: We report here a family with X-linked hypophosphatemia (XLH) due to a novel synonymous PHEX variant with a unique mechanism. Methods: We studied...
9.
Alhamoudi K, Alghamdi B, Aljomaiah A, Alswailem M, Al-Hindi H, Alzahrani A
Front Genet
. 2022 Jul;
13:885589.
PMID: 35865014
Mutations in the nuclear receptor subfamily 5 group A member 1 () are the underlying cause of 10-20% of 46,XY disorders of sex development (DSDs). We describe a young girl...
10.
Alzahrani A, Alswailem M, Alghamdi B, Al-Hindi H
J Clin Endocrinol Metab
. 2022 Jun;
107(9):2539-2544.
PMID: 35751867
Context: The majority of cases of epithelial cell-derived thyroid cancer are sporadic. Familial non-medullary thyroid cancer (FNMTC) occurs in about 5% to 9% of cases, either as a part of...