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
1.
Osman K, Asaly A, Halloun R, Paperna T, Pollack S, Magen D, et al.
Eur J Med Genet
. 2025 Jan;
73:104994.
PMID: 39788453
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper...
2.
Levi S, Landau D, Davidovits M, Rootman M, Brener A, Gal S, et al.
Front Pediatr
. 2024 Dec;
12:1487890.
PMID: 39687707
Background: X-linked hypophosphatemic rickets (XLH) is associated with uninhibited FGF23 activity, which leads to phosphaturia, hypophosphatemia and depressed active vitamin D (1,25OH2D) levels. Conventional treatment with phosphate supplements and vitamin...
3.
Levy-Shraga Y, Levi S, Regev R, Gal S, Brener A, Lebenthal Y, et al.
Eur J Pediatr
. 2023 Sep;
182(11):5191-5202.
PMID: 37707589
Conclusion: Burosumab treatment in a real-life setting improved phosphate homeostasis and rickets severity and enhanced linear growth. What Is Known: • Compared to conventional therapy, burosumab treatment has been shown...
4.
Butbul Aviel Y, Keinan A, Hartmann M, Wudy S, Tiosano D
Pediatr Rheumatol Online J
. 2023 Apr;
21(1):32.
PMID: 37046333
Objective: To evaluate the impact of anti-tumor necrosis factor-alpha (TNFα: etanercept [Etanercept ®]) therapy on adrenal activity in juvenile idiopathic arthritis (JIA) . Method: Eleven JIA patients aged 12 ± ...
5.
Gulluni F, Prever L, Li H, Krafcikova P, Corrado I, Lo W, et al.
Science
. 2021 Dec;
374(6573):eabk0410.
PMID: 34882480
Cytokinetic membrane abscission is a spatially and temporally regulated process that requires ESCRT (endosomal sorting complexes required for transport)–dependent control of membrane remodeling at the midbody, a subcellular organelle that...
6.
Aljuraibah F, Bacchetta J, Brandi M, Florenzano P, Javaid M, Makitie O, et al.
J Bone Miner Res
. 2021 Dec;
37(1):12-20.
PMID: 34870347
Because of their rarity, diseases characterized by chronic hypophosphatemia can be underrecognized and suboptimally managed, resulting in poor clinical outcomes. Moreover, serum phosphate may not be measured routinely in primary...
7.
Halloun R, Habib C, Ekhilevitch N, Weiss R, Tiosano D, Cohen M
Eur J Med Genet
. 2021 May;
64(8):104252.
PMID: 34051361
Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the MAGEL2 gene. Developmental delay, feeding difficulties, joint contractures and a high prevalence of autism spectrum...
8.
Li D, Wang Q, Gong N, Kurolap A, Feldman H, Boy N, et al.
Sci Adv
. 2021 May;
7(20).
PMID: 33980485
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However, the underlying molecular mechanism for more than 50% of the patients remains elusive. We describe...
9.
Tiosano D, Abrams S, Weisman Y
J Nutr
. 2021 Jan;
151(3):473-481.
PMID: 33438017
We summarize here lessons learned from studies on skeletal and extra-skeletal functions of vitamin D in hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) patients with a mutant, nonfunctioning vitamin D receptor (VDR)....
10.
Lin Y, Niceta M, Muto V, Vona B, Pagnamenta A, Maroofian R, et al.
Am J Hum Genet
. 2020 Dec;
108(1):115-133.
PMID: 33308444
Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report...