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by Mu, J and Wang, WJ and Chen, BB and Wu, L and Li, B and Mao, XY and Zhang, ZH and Fu, J and Kuang, YP and Sun, XX and Li, QL and Jin, L and He, L and Sang, Q and Wang, L
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 07/2019, Volume 56, Issue 7, pp. 471 - 480
Background Successful human reproduction requires normal spermatogenesis, oogenesis, fertilisation and early embryonic development, and abnormalities in any of... 
mutation | GENE | female infertility | GENETICS & HEREDITY | reproductive medicine | embryonic arrest | EMBRYOGENESIS
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2016, Volume 53, Issue 10, pp. 662 - 671
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 2019, Volume 64, Issue 5, pp. 379 - 385
Oocyte maturation arrest results in primary female infertility, but the genetic etiology of this phenotype remains largely unknown. Previously, we and other... 
OOCYTE MATURATION | TUBB8 | ARREST | FERTILIZATION | GENETICS & HEREDITY | Index Medicus
Journal Article
by Zhou, Z and Ni, CX and Wu, L and Chen, BB and Xu, Y and Zhang, ZH and Mu, J and Li, B and Yan, Z and Fu, J and Wang, WJ and Zhao, L and Dong, J and Sun, XX and Kuang, YP and Sang, Q and Wang, L
HUMAN GENETICS, ISSN 0340-6717, 04/2019, Volume 138, Issue 4, pp. 327 - 337
The human zona pellucida (ZP) is an extracellular glycoprotein matrix composed of ZP1, ZP2, ZP3, and ZP4 surrounding the oocyte, and it plays an important role... 
GLYCOPROTEINS | LACKING | FERTILIZATION | EGGS | GENETICS & HEREDITY | Ethylenediaminetetraacetic acid | Genetic aspects | Nucleotide sequencing | Infertility, Female | Gene mutations | DNA sequencing | In vitro fertilization | Phenotypes | Fertilization | Secretion | Infertility | Degeneration | Mutation | Zp gene | Zona pellucida | Oocytes | Structure-function relationships
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2019, Volume 95, Issue 4, pp. 520 - 524
Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with... 
human fertilization failure | mutation | WEE2 | OOCYTE | GENETICS & HEREDITY | Genetic research | Genetic aspects | Nucleotide sequencing | DNA sequencing | Mutation | Fertilization | Sexual reproduction | Exons | Oocytes
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 01/2020, Volume 84, Issue 1, pp. 46 - 53
Intellectual disability (ID) describes a wide range of serious human diseases caused by defects in central nervous system development and function. Some mutant... 
CMP‐sialic acid synthetase (CMAS) | intellectual disability (ID) | whole‐exome sequencing | protein expression
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2019, Volume 27, Issue 2, pp. 300 - 307
Human oocyte maturation is a precondition for fertilization and ensuing embryonic development. Previously, we identified TUBB8 variants as a genetic... 
OOCYTE MATURATION | ARREST | WOMEN | FERTILIZATION | SERVER | BIOCHEMISTRY & MOLECULAR BIOLOGY | MEIOSIS | GENETICS & HEREDITY | Embryogenesis | Phenotypes | Fertilization | Infertility | Oocytes
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 08/2019, Volume 104, Issue 12, pp. 5877 - 5892
The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is mainly expressed in gonads and plays important roles in estradiol production, ovulation and... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2019, p. jmedgenet-2019-106379
BackgroundAbnormal pronuclear formation during fertilisation and subsequent early embryonic arrest results in female infertility. In recent years, with the... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, p. 744
  Early embryonic arrest is one of the major causes of female infertility. However, because of difficulties in phenotypic evaluation, genetic determinants of... 
In vitro fertilization | Genotype & phenotype | Genes | Reproductive technologies | Mutation | RNA polymerase | Gene expression
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2016, Volume 53, Issue 10, pp. 662 - 671
Journal Article
Journal Article