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Article

Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.

Human reproduction (Oxford, England) - 2 May 2024

Muranishi Yuki, Kobori Yoshitomo, Katoh-Fukui Yuko, Tamaoka Satoshi, Hattori Atsushi, Osaka Akiyoshi, Okada Hiroshi, Nakabayashi Kazuhiko, Hata Kenichiro, Kawai Tomoko, Ogata-Kawata Hiroko, Iwahata Toshiyuki, Saito Kazuki, Kon Masafumi, Shinohara Nobuo, Fukami Maki

Abstract excerpt

STUDY QUESTION: Do copy-number variations (CNVs) in the azoospermia factor (AZF) regions and monogenic mutations play a major role in the development of isolated (non-syndromic) non-obstructive azoospermia (NOA) in Japanese men with a normal 46, XY karyotype? SUMMARY ANSWER: Deleterious CNVs in the AZF regions and damaging sequence variants in eight genes likely constitute at least 8% and approximately 8% of the...

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PMID: 38511217
DOI: 10.1093/humrep/deae057

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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