Detalhe da pesquisa
1.
Eif4enif1 haploinsufficiency disrupts oocyte mitochondrial dynamics and leads to subfertility.
Development
; 150(23)2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38088064
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34932939
3.
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice.
J Med Genet
; 60(2): 154-162, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35534203
4.
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
5.
TBC1D21 is an essential factor for sperm mitochondrial sheath assembly and male fertility.
Biol Reprod
; 107(2): 619-634, 2022 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35403672
6.
Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.
Clin Genet
; 99(3): 443-448, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314088
7.
Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.
Clin Genet
; 100(4): 376-385, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34096614
8.
Pathogenic variants of ATG4D in infertile men with non-obstructive azoospermia identified using whole-exome sequencing.
Clin Genet
; 100(3): 280-291, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988247
9.
Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.
Reprod Biol Endocrinol
; 19(1): 27, 2021 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33610189
10.
Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella.
Reprod Biomed Online
; 42(5): 963-972, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33771466
11.
Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility.
Acta Biochim Biophys Sin (Shanghai)
; 53(4): 472-480, 2021 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704367
12.
Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure.
Acta Biochim Biophys Sin (Shanghai)
; 53(10): 1300-1309, 2021 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34476482
13.
A familial analysis of two brothers with azoospermia caused by maternal 46,Y, t(X; 1) (q28; q21) chromosomal abnormality.
Andrologia
; 53(1): e13867, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141951
14.
[Analysis of a patient with primary ciliary dyskinesia caused by DNAH5 variants].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(5): 458-460, 2021 May 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-33974255
15.
[Amyloidosis cutis dyschromica due to homozygous variants of the GPNMB gene in a Chinese pedigree].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(2): 123-126, 2021 Feb 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-33565062
16.
DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.
Ann Hum Genet
; 84(3): 271-279, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31841227
17.
Defective piRNA Processing and Azoospermia.
N Engl J Med
; 386(17): 1675, 2022 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476665
18.
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.
J Hum Genet
; 65(11): 961-969, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555313
19.
Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.
Clin Genet
; 97(2): 321-328, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31654588
20.
Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF).
J Med Genet
; 56(10): 678-684, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31151990