Detalles de la búsqueda
1.
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models.
Am J Hum Genet;
110(3): 516-530, 2023 03 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36796361
2.
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
Am J Hum Genet;
109(1): 157-171, 2022 01 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34932939
3.
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans.
J Med Genet;
2024 Feb 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-38341271
4.
Novel MEIOB pathogenic variants including a homozygous non-canonical splicing variant, cause meiotic arrest and human non-obstructive azoospermia.
Clin Genet;
105(1): 99-105, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37715646
5.
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.
J Med Genet;
60(8): 827-834, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36593121
6.
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Nucleic Acids Res;
50(16): 9115-9126, 2022 09 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35993808
7.
Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2.
J Assist Reprod Genet;
2024 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38430325
8.
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
Am J Hum Genet;
107(3): 514-526, 2020 09 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32791035
9.
Comparison of Perioperative Outcomes and Complications of Laparoscopic and Robotic Nephroureterectomy Approaches in Patients with Upper-Tract Urothelial Carcinoma.
Ann Surg Oncol;
30(6): 3805-3816, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36879036
10.
Circ_PRDM5/miR-25-3p/ANKRD46 axis is associated with cell malignant behaviors in subjects with breast cancer evaluated by ultrasound.
J Biochem Mol Toxicol;
37(11): e23469, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37485755
11.
Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryos.
J Assist Reprod Genet;
40(7): 1689-1702, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-36864181
12.
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.
Hum Mutat;
43(3): 434-443, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34923715
13.
Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.
Hum Mutat;
43(12): 2079-2090, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36135717
14.
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.
Am J Hum Genet;
104(4): 738-748, 2019 04 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30929735
15.
Non-invasive molecular biomarkers for predicting outcomes of micro-TESE in patients with idiopathic non-obstructive azoospermia.
Expert Rev Mol Med;
24: e22, 2022 06 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35659383
16.
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.
Clin Genet;
102(2): 130-135, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35543642
17.
Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia.
Reprod Biol Endocrinol;
20(1): 63, 2022 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35366911
18.
Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF.
Reprod Biol Endocrinol;
20(1): 41, 2022 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35232447
19.
Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.
Reprod Biol Endocrinol;
20(1): 5, 2022 Jan 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34980136
20.
Discovery and preclinical profile of sudapyridine (WX-081), a novel anti-tuberculosis agent.
Bioorg Med Chem Lett;
71: 128824, 2022 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35636648