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Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK. Malcher A, et al. Andrology. 2022 Nov;10(8):1605-1624. doi: 10.1111/andr.13269. Epub 2022 Sep 7. Andrology. 2022. PMID: 36017582 Free PMC article.
RESULTS: Using WGS, we revealed potential NOA-associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, TEX13A, TEX14, DNAH1, FANCM, QRICH2, FSIP2, USP9Y, PMFBP1, MEI1, PIWIL1, WDR66, ZFX, KCND1, KIAA1210, DHRSX, ZMYM3, FAM47C, FANCB, FAM50B (ge …
RESULTS: Using WGS, we revealed potential NOA-associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, T …
[Diagnosis of a patient with adjacent gene deletion syndrome with DMD complete deletion type of Duchenne muscular dystrophy].
Liu L, Wang L, Jiao Z, Kong X. Liu L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):869-872. doi: 10.3760/cma.j.cn511374-20200324-00196. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34487533 Chinese.
SNP array results showed that 5.8Mb (29 628 158-35 434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome, and the patient was diagnosed as the contiguous deletion syndrome involving the genes of IL1RAPL, MAGEB1-4, ROB, CXorf2, GM, AP3K7IP, FTHL1, DMD, FAM47A, TMEM4 …
SNP array results showed that 5.8Mb (29 628 158-35 434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome, and the patient was …