Dov Tiosano
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Explore the profile of Dov Tiosano including associated specialties, affiliations and a list of published articles.
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51
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1615
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Recent Articles
11.
Cohen M, Pignatti E, Dines M, Mory A, Ekhilevitch N, Kolodny R, et al.
Int J Mol Sci
. 2020 Aug;
21(16).
PMID: 32824094
Classical congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the steroid 21-hydroxylase gene () is a severe life-threatening condition. We present a detailed investigation of the molecular and functional...
12.
Mandel H, Kfir N, Fedida A, Biton E, Odeh M, Kalfon L, et al.
Clin Genet
. 2020 Jul;
98(4):402-407.
PMID: 32683677
COG6-congenital disorder of glycosylation (COG6-CDG) is caused by biallelic mutations in COG6. To-date, 12 variants causing COG6-CDG in less than 20 patients have been reported. Using whole exome sequencing we...
13.
Gruber N, Kugler S, de Vries L, Brener A, Zung A, Eyal O, et al.
J Adolesc Health
. 2020 Jan;
66(5):603-609.
PMID: 31987720
Purpose: The aim of the study was to estimate the current incidence and the distribution of etiologies of primary ovarian insufficiency (POI) in a nationwide study. The prevalence of POI...
14.
Tiosano D, Mears J, Buchner D
Endocrinology
. 2019 Aug;
160(10):2353-2366.
PMID: 31393557
Primary ovarian insufficiency (POI) is defined by the loss or dysfunction of ovarian follicles associated with amenorrhea before the age of 40. Symptoms include hot flashes, sleep disturbances, and depression,...
15.
Cohen M, Persky R, Stegemann R, Hernandez-Ramirez L, Zeltser D, Lodish M, et al.
J Clin Endocrinol Metab
. 2019 Jun;
104(10):4676-4682.
PMID: 31162547
Background: Somatic mutations in the ubiquitin-specific peptidase 8 (USP8) gene are common in corticotropinomas of children with Cushing disease (CD). We report a unique patient with a germline USP8 mutation...
16.
Tiosano D, Baris H, Chen A, Hitzert M, Schueler M, Gulluni F, et al.
PLoS Genet
. 2019 Apr;
15(4):e1008088.
PMID: 31034465
PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and the phosphorylation of PI(4)P into PI(3,4)P2. At the...
17.
Tiosano D, Weisman Y
Fertil Steril
. 2019 Apr;
112(1):156-161.
PMID: 31029431
Objective: To study the reproductive history of patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) who have a nonfunctioning vitamin D receptor (VDR). Design: Retrospective cohort study. Setting: Tertiary university-affiliated medical...
18.
Pode-Shakked N, Blau A, Pode-Shakked B, Tiosano D, Weintrob N, Eyal O, et al.
J Clin Endocrinol Metab
. 2019 Mar;
104(8):3172-3180.
PMID: 30865229
Context: Congenital adrenal hyperplasia (CAH) was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17α-hydroxyprogesterone (17-OHP) levels in dried blood spots. However, the success...
19.
Chen A, Tiosano D, Guran T, Baris H, Bayram Y, Mory A, et al.
Hum Mol Genet
. 2018 Mar;
27(11):1913-1926.
PMID: 29566152
Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive mutations in...
20.
Gruters-Kieslich A, Reyes M, Sharma A, Demirci C, DeClue T, Lankes E, et al.
J Clin Endocrinol Metab
. 2017 Apr;
102(8):2670-2677.
PMID: 28453643
Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type 1A (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function...