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High-dose cholecalciferol supplementation to obese infertile men is sufficient to reach adequate vitamin D status.
Holt R, Jorsal MJ, Yahyavi SK, Qin S, Juul A, Jørgensen N, Blomberg Jensen M. Holt R, et al. Br J Nutr. 2024 Feb 28;131(4):642-647. doi: 10.1017/S0007114523002222. Epub 2023 Oct 9. Br J Nutr. 2024. PMID: 37811573 Clinical Trial.

At baseline, serum 25OHD was significantly higher in men with normal weight (BMI < 25 kg/m(2)) compared with men with overweight (BMI 25-30 kg/m(2)) and obesity (BMI > 30 kg/m(2)) (48 nmol/l v. 45 nmol/l and 39 nmol/l, respectively; P = 0.024). After th

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At baseline, serum 25OHD was significantly higher in men with normal weight (BMI < 25 kg/m(2)) compared with men with overweight (

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Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM. Jimenez NL, et al. BMC Med Genet. 2011 Dec 28;12:172. doi: 10.1186/1471-2350-12-172. BMC Med Genet. 2011. PMID: 22204637 Free PMC article.
We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M. ...We did not find mutations in 10/15 patients and conclude that there is a need for further gene discovery in A/M …
We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for scre …
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM. Yahyavi M, et al. Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591992 Free PMC article.
Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. ...We used whole-exome and whole …
Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphth …
Cultural Aspects of Social Anxiety Disorder: A Qualitative Analysis of Anxiety Experiences and Interpretation.
Mohammadi A, Abasi I, Soleimani M, Moradian ST, Yahyavi T, Zarean M. Mohammadi A, et al. Iran J Psychiatry. 2019 Jan;14(1):33-39. Iran J Psychiatry. 2019. PMID: 31114615 Free PMC article.
A total of 16 individuals with social anxiety disorder (six men and 10 women) were selected using purposeful sampling method (M = 24.43, SD = 4.56). The study was conducted in Tehran, Urmia, and Sanandaj- Iran. ...
A total of 16 individuals with social anxiety disorder (six men and 10 women) were selected using purposeful sampling method (M = 24. …
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. Slavotinek AM, et al. Hum Mutat. 2012 Feb;33(2):364-8. doi: 10.1002/humu.21658. Epub 2011 Dec 27. Hum Mutat. 2012. PMID: 22095910 Free PMC article.
We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia (A/M). In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>A and c.454C>A, predicting p.Arg152Ser, in a proband of Egyptian origin with mic …
We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia (A/M). In VAX1, we observed homozygosi …