Detalhe da pesquisa
1.
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
2.
[Clinical and molecular genetic analysis of a patient with 3-M syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(12): 1237-1240, 2021 Dec 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-34839515
3.
[Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(12): 1208-1210, 2021 Dec 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-34839508
4.
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
5.
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
6.
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
7.
[Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(9): 997-1000, 2020 Sep 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-32820515
8.
DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.
Clin Genet
; 95(5): 590-600, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30811583
9.
Biallelic mutations in PMFBP1 cause acephalic spermatozoa.
Clin Genet
; 95(2): 277-286, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298696
10.
Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection.
Andrologia
; 51(1): e13151, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30251428
11.
[Analysis of a pedigree with partial trisomy 9 and partial monosomy 13 derived from a maternal balanced t(9;13) translocation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(4): 336-339, 2019 Apr 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-30950020
12.
A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review.
BMC Med Genet
; 19(1): 63, 2018 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29661171
13.
Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.
J Genet Couns
; 26(1): 72-78, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27422779
14.
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
BMC Med Genet
; 17(1): 77, 2016 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27821076
15.
Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers.
Reproduction
; 151(4): 455-64, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26825930
16.
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Am J Med Genet A
; 170(6): 1613-21, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27028180
17.
Morphometric analysis and developmental comparison of embryos from carriers with balanced chromosomal rearrangements in preimplantation genetic diagnosis cycles.
Reprod Fertil Dev
; 28(12): 1953-1963, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26118930
18.
[Familial fragile X syndrome: A pedigree analysis].
Zhonghua Nan Ke Xue
; 22(9): 797-804, 2016 Sep.
Artigo
em Chinês
| MEDLINE | ID: mdl-29071876
19.
[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].
Zhonghua Yan Ke Za Zhi
; 51(5): 360-3, 2015 May.
Artigo
em Chinês
| MEDLINE | ID: mdl-26311697
20.
[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 31(3): 272-5, 2014 Jun.
Artigo
em Chinês
| MEDLINE | ID: mdl-24928000