Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796361
2.
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Am J Hum Genet
; 108(2): 309-323, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33472045
3.
Deleterious variant in FAM71D cause male infertility with asthenoteratospermia.
Mol Genet Genomics
; 299(1): 35, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38489045
4.
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.
J Med Genet
; 60(8): 827-834, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36593121
5.
Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility.
J Med Genet
; 60(2): 137-143, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35228300
6.
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
Am J Hum Genet
; 107(2): 330-341, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619401
7.
Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.
Clin Genet
; 103(4): 498-500, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544392
8.
Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency.
Clin Genet
; 104(5): 516-527, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37461298
9.
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.
J Med Genet
; 59(7): 710-718, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34348960
10.
Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.
Hum Mol Genet
; 29(16): 2698-2707, 2020 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32716490
11.
Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice.
Am J Hum Genet
; 105(6): 1168-1181, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735294
12.
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.
Am J Hum Genet
; 104(4): 738-748, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929735
13.
Ultra-high α-linolenic acid accumulating developmental defective embryo was rescued by lysophosphatidic acid acyltransferase 2.
Plant J
; 103(6): 2151-2167, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573846
14.
Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.
J Med Genet
; 57(1): 31-37, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048344
15.
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
Am J Hum Genet
; 100(6): 854-864, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552195
16.
Dietary curcumin supplementation effects on blood immunological profile and liver enzymatic activity of laying hens after exposure to high temperature conditions.
J Therm Biol
; 90: 102573, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32479380
17.
Rare variants in FANCA induce premature ovarian insufficiency.
Hum Genet
; 138(11-12): 1227-1236, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31535215
18.
Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility.
J Hum Genet
; 64(1): 49-54, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30310178
19.
A genome-wide association study identifies new genes associated with developmental dysplasia of the hip.
Clin Genet
; 95(3): 345-355, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30511388
20.
Effect of dietary curcumin on the antioxidant status of laying hens under high- temperature condition.
J Therm Biol
; 86: 102449, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31789237