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A novel homozygous splice variant in DNAAF4 is associated with asthenozoospermia.
- Published in:
- Acta Biochimica et Biophysica Sinica, 2023, v. 55, n. 10, p. 1689, doi. 10.3724/abbs.2023147
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- Article
Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure.
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- Acta Biochimica et Biophysica Sinica, 2021, v. 53, n. 10, p. 1300, doi. 10.1093/abbs/gmab113
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- Article
Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility.
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- Acta Biochimica et Biophysica Sinica, 2021, v. 53, n. 4, p. 472, doi. 10.1093/abbs/gmab013
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- Article
Loss‐of‐function mutation in TSGA10 causes acephalic spermatozoa phenotype in human.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1284
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- Article
A novel <italic>TEX11</italic> mutation induces azoospermia: a case report of infertile brothers and literature review.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0570-4
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- Article
Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice.
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- Human Reproduction Open, 2024, v. 2024, n. 1, p. 1, doi. 10.1093/hropen/hoae003
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- Article
Predictors of successful salvage microdissection testicular sperm extraction (mTESE) after failed initial TESE in patients with non‐obstructive azoospermia: A systematic review and meta‐analysis.
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- Andrology, 2024, v. 12, n. 1, p. 30, doi. 10.1111/andr.13448
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- Article
TENT5D disruption causes oligoasthenoteratozoospermia and male infertility.
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- Andrology, 2023, v. 11, n. 6, p. 1121, doi. 10.1111/andr.13407
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- Article
Novel NLRP14 Mutations Induce Azoospermia.
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- Andrologia, 2023, p. 1, doi. 10.1155/2023/9295049
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- Article
A familial analysis of two brothers with azoospermia caused by maternal 46,Y, t(X; 1) (q28; q21) chromosomal abnormality.
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- Andrologia, 2021, v. 53, n. 1, p. 1, doi. 10.1111/and.13867
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- Article
Pedigree analysis of two brothers with severe oligozoospermia caused by maternal inv(X) (p22.3, q22) chromosome abnormality.
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- Andrologia, 2020, v. 52, n. 6, p. 1, doi. 10.1111/and.13602
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- Article
Novel mutations of TEX11 are associated with non-obstructive azoospermia.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1159723
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- Article
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0864-1
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- Article
Biallelic mutations in KATNAL2 cause male infertility due to oligo‐astheno‐teratozoospermia.
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- Clinical Genetics, 2021, v. 100, n. 4, p. 376, doi. 10.1111/cge.14009
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- Article
Pathogenic variants of ATG4D in infertile men with non‐obstructive azoospermia identified using whole‐exome sequencing.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 280, doi. 10.1111/cge.13995
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- Article
Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.
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- Clinical Genetics, 2021, v. 99, n. 3, p. 443, doi. 10.1111/cge.13898
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- Article
Loss‐of‐function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.
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- Clinical Genetics, 2020, v. 97, n. 2, p. 321, doi. 10.1111/cge.13662
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- Article
Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype.
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- Clinical Genetics, 2019, v. 96, n. 5, p. 385, doi. 10.1111/cge.13602
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- Article
DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.
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- Clinical Genetics, 2019, v. 95, n. 5, p. 590, doi. 10.1111/cge.13525
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- Article
DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.
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- Annals of Human Genetics, 2020, v. 84, n. 3, p. 271, doi. 10.1111/ahg.12369
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- Article
Comprehensive Genome Profiling of Single Sperm Cells by Multiple Annealing and Looping-Based Amplification Cycles and Next-Generation Sequencing from Carriers of Robertsonian Translocation.
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- Annals of Human Genetics, 2017, v. 81, n. 2, p. 91, doi. 10.1111/ahg.12187
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- Article
EIF4G1 is a novel candidate gene associated with severe asthenozoospermia.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.807
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- Article
Glutathione S-transferase A1 polymorphism and the risk of recurrent spontaneous abortion in Chinese Han population.
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- Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 3, p. 379, doi. 10.1007/s10815-013-0163-2
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- Article
Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review.
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- Human Reproduction Update, 2024, v. 30, n. 1, p. 48, doi. 10.1093/humupd/dmad026
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- Article
Homozygous mutation in DNALI1 leads to asthenoteratozoospermia by affecting the inner dynein arms.
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- Frontiers in Endocrinology, 2023, v. 13, p. 1, doi. 10.3389/fendo.2022.1058651
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- Article
Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization.
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- Frontiers in Endocrinology, 2023, v. 13, p. 1, doi. 10.3389/fendo.2022.1099270
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- Article
Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.
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- Reproductive Biology & Endocrinology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12958-021-00709-0
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- Article
Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention.
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- Journal of Ovarian Research, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13048-020-00716-6
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- Article