Detalhe da pesquisa
1.
[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 234-238, 2024 Feb 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-38311566
2.
Biparental Inheritance of Mitochondrial DNA in Humans.
Proc Natl Acad Sci U S A
; 115(51): 13039-13044, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30478036
3.
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Genet Med
; 22(3): 500-510, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447483
4.
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
J Med Genet
; 56(10): 685-692, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186340
5.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040572
6.
A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM).
J Assist Reprod Genet
; 36(8): 1609-1621, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292818
7.
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments.
Proc Natl Acad Sci U S A
; 116(6): 1823-1824, 2019 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30674682
8.
Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers.
Reproduction
; 151(4): 455-64, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26825930
9.
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
10.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 27(12): 2224, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29554255
11.
[Etiology and diagnosis of intellectual disability].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(6): 543-8, 2015 Jun.
Artigo
em Chinês
| MEDLINE | ID: mdl-26108310
12.
Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
BMC Med Genomics
; 17(1): 135, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38773466
13.
Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review.
Front Pediatr
; 11: 1199609, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37484768
14.
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.
Front Genet
; 14: 1246712, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38174045
15.
Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
Mol Genet Genomic Med
; 10(4): e1901, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35235708
16.
Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.
Front Genet
; 13: 1056127, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36506332
17.
Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.
Front Cell Dev Biol
; 9: 661747, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33937263
18.
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Front Endocrinol (Lausanne)
; 12: 711991, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34589056
19.
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
J Genet Genomics
; 48(5): 396-402, 2021 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34006472
20.
Long-Molecule Sequencing: A New Approach for Identification of Clinically Significant DNA Variants in α-Thalassemia and ß-Thalassemia Carriers.
J Mol Diagn
; 22(8): 1087-1095, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32473995