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1. Full Text Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest
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
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2. Full Text Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos
by Feng, Ruizhi and Yan, Zheng and Li, Bin and Yu, Min and Sang, Qing and Tian, Guoling and Xu, Yao and Chen, Biaobang and Qu, Ronggui and Sun, Zhaogui and Sun, Xiaoxi and Jin, Li and He, Lin and Kuang, Yanping and Cowan, Nicholas J and Wang, Lei
Journal of Medical Genetics, ISSN 0022-2593, 10/2016, Volume 53, Issue 10, pp. 662 - 671
BackgroundTUBB8 is a primate-specific β-tubulin isotype whose expression is confined to oocytes and the early embryo. We previously found that mutations in... 
SIGNALING PATHWAYS | FERTILIZATION | oocyte maturation arrest | MAMMALIAN OOCYTES | POLAR BODY | SELF-ORGANIZATION | MATURATION | TUBB8 | IN-VITRO | mutations | female infertility | MOUSE OOCYTES | GENETICS & HEREDITY | INFERTILITY | MEIOTIC ARREST | Phenotype | Animals | Oocytes - metabolism | Humans | Female | Tubulin - genetics | Mice | Mutation | Infertility, Female - genetics | Embryo, Mammalian - metabolism | Infertility, Female - metabolism | Spindle Apparatus | Research | Tubulins | Oocytes | mutation
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3. Full Text Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility
by Wu, Ling and Chen, Hua and Li, Da and Song, Di and Chen, Biaobang and Yan, Zheng and lyu, Qifeng and Wang, Lei and Kuang, Yanping and Li, Bin and Sang, Qing
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
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4. Full Text Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation
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
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5. Full Text Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure
by Zhang, Zhihua and Mu, Jian and Zhao, Junli and Zhou, Zhou and Chen, Biaobang and Wu, Ling and Yan, Zheng and Wang, Wenjing and Zhao, Lin and Dong, Jie and Sun, Xiaoxi and Kuang, Yanping and Li, Bin and Wang, Lei and Sang, Qing
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
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6. Full Text A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family
by Qu, Ronggui and Sang, Qing and Wang, Xueqian and Xu, Yao and Chen, Biaobang and Mu, Jian and Zhang, Zhihua and Jin, Li and He, Lin and Wang, Lei
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
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7. Full Text The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility
by Chen, Biaobang and Wang, Wenjing and Peng, Xiandong and Jiang, Huafeng and Zhang, Shaozhen and Li, Da and Li, Bin and Fu, Jing and Kuang, Yanping and Sun, Xiaoxi and Wang, Xueqian and Zhang, Zhihua and Wu, Ling and Zhou, Zhou and Lyu, Qifeng and Yan, Zheng and Mao, Xiaoyan and Xu, Yao and Mu, Jian and Li, Qiaoli and Jin, Li and He, Lin and Sang, Qing and Wang, Lei
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
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8. Full Text Pregnancy and live birth in women with pathogenic LHCGR variants using their own oocytes
by Lu, Xuefeng and Yan, Zheng and Cai, Renfei and Khor, Shuzin and Wu, Ling and Sun, Lihua and Wang, Yun and Xu, Yao and Tian, Hui and Chen, Qiuju and Qiao, Jie and Li, Bing and Chen, Biaobang and Cao, Yu and Lyu, Qifeng and Wang, Lei and Kuang, Yanping
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... 
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9. Full Text Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest
by Wang, Wenjing and Dong, Jie and Chen, Biaobang and Du, Jing and Kuang, Yanping and Sun, Xiaoxi and Fu, Jing and Li, Bin and Mu, Jian and Zhang, Zhihua and Zhou, Zhou and Lin, Zhao and Wu, Ling and Yan, Zheng and Mao, Xiaoyan and Li, Qiaoli and He, Lin and Wang, Lei and Sang, Qing
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... 
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10. Full Text Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest
by Xu, Yao and Shi, Yingli and Fu, Jing and Yu, Min and Feng, Ruizhi and Sang, Qing and Liang, Bo and Chen, Biaobang and Qu, Ronggui and Li, Bin and Yan, Zheng and Mao, Xiaoyan and Kuang, Yanping and Jin, Li and He, Lin and Sun, Xiaoxi and Wang, Lei
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 744 - 752
Early embryonic arrest is one of the major causes of female infertility. However, because of difficulties in phenotypic evaluation, genetic determinants of... 
ZYGOTIC TRANSITION | OOCYTE | GENOME ACTIVATION | MATERNAL EFFECT GENE | GENETICS & HEREDITY | Hydrolases - genetics | Phosphorylation | Humans | RNA Polymerase II - metabolism | Infertility, Female - genetics | Embryo Loss - pathology | Treatment Failure | Adult | Female | Embryo Loss - genetics | RNA Polymerase II - chemistry | Oocytes - metabolism | Hydrolases - deficiency | Mice, Knockout | Homozygote | Sperm Injections, Intracytoplasmic | Phenotype | Animals | Fertilization in Vitro | Consanguinity | Mice | Infertility, Female - complications | Mutation | Codon, Nonsense - genetics | Protein-Arginine Deiminases | Report
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11. Full Text Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development
by Chen, Biaobang and Li, Bin and Li, Da and Yan, Zheng and Mao, Xiaoyan and Xu, Yao and Mu, Jian and Li, Qiaoli and Jin, Li and He, Lin and Kuang, Yanping and Sang, Qing and Wang, Lei
Human Reproduction, ISSN 0268-1161, 02/2017, Volume 32, Issue 2, pp. 457 - 464
Abstract STUDY QUESTION Are there any new type of mutations and novel phenotypes in patients with arrest in oocyte maturation, fertilization or early embryonic... 
TUBB8 | Mutations | Female infertility | Phenotypic variability | Oocyte maturation arrest | CELLS | PROTEIN | phenotypic variability | KINASE | oocyte maturation arrest | MAMMALIAN OOCYTES | OBSTETRICS & GYNECOLOGY | REPRODUCTIVE BIOLOGY | mutations | female infertility | DYNAMICS | MEIOTIC ARREST | FOLLICLE | Oocytes - metabolism | Humans | Embryonic Development - genetics | Fertilization - genetics | Genotype | Tubulin - genetics | Infertility, Female - genetics | Infertility, Female - metabolism | Pregnancy | Phenotype | Tubulin - metabolism | DNA Mutational Analysis | Gene Deletion | Female | Mutation
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12. Full Text Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest
by Chen, Biaobang and Zhang, Zhihua and Sun, Xiaoxi and Kuang, Yanping and Mao, Xiaoyan and Wang, Xueqian and Wang, Lei and Yan, Zheng and Li, Bin and Li, Qiaoli and Xu, Yao and Yu, Min and Fu, Jing and Mu, Jian and Zhou, Zhou and Jin, Li and He, Lin and Sang, Qing
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 609 - 615
Oocyte maturation arrest results in female infertility, but the genetic determinants of human oocyte maturation arrest remain largely unknown. Previously, we... 
oocyte maturation arrest | mutations | female infertility | Mendelian disease | TUBB8 | WOMEN | FERTILIZATION | NUCLEAR | XENOPUS | GENETICS & HEREDITY | SEQUENCING DATA | MEIOTIC ARREST | Oocytes - metabolism | Humans | Male | Meiosis | Codon, Nonsense | Oocytes - pathology | DNA-Binding Proteins - genetics | Infertility, Female - genetics | Pregnancy | Infertility, Female - pathology | Cell Cycle | Pedigree | Adult | Female | Cell Differentiation | Cohort Studies | Women | Gene mutations | Human physical development | Infertility | Analysis | Genetic aspects | Research | Health aspects | Mendel's law | Report
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13. Full Text Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility
by Sang, Qing and Li, Bin and Li, Qiaoli and Kuang, Yanping and Wang, Xueqian and Wang, Lei and Zhang, Zhihua and Chen, Biaobang and Wu, Ling and Lyu, Qifeng and Fu, Yonglun and Yan, Zheng and Mao, Xiaoyan and Xu, Yao and Mu, Jian and Jin, Li and He, Lin
The American Journal of Human Genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 649 - 657
Fertilization is a fundamental process of development and is a prerequisite for successful human reproduction. In mice, although several receptor proteins have... 
genetic mutations | oocyte maturation | fertilization failure | female infertility | Mendelian disease | OOCYTE | TRANSITION | EMBRYO | GENETICS | MAMMALIAN FERTILIZATION | MOUSE | GENETICS & HEREDITY | MECHANISMS | MEIOTIC ARREST | MATURATION | EGGS | Phosphorylation | Humans | Zygote - metabolism | Male | RNA, Complementary - administration & dosage | Infertility, Female - genetics | CDC2 Protein Kinase - metabolism | Cell Cycle Proteins - chemistry | Protein-Tyrosine Kinases - genetics | Base Sequence | Protein-Tyrosine Kinases - chemistry | Cell Cycle Proteins - genetics | Adult | Female | Amino Acid Sequence | Oocytes - metabolism | Fertilization - genetics | Mutant Proteins - metabolism | Mutation - genetics | Homozygote | Sperm Injections, Intracytoplasmic | Phenotype | Pedigree | Family | HeLa Cells
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14. Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest
by Yao Xu and Yingli Shi and Jing Fu and Min Yu and Ruizhi Feng and Qing Sang and Bo Liang and Biaobang Chen and Ronggui Qu and Bin Li and Zheng Yan and Xiaoyan Mao and Yanping Kuang and Li Jin and Lin He and Xiaoxi Sun and Lei Wang
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
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15. Full Text Mutations inTUBB8cause a multiplicity of phenotypes in human oocytes and early embryos
by Feng, Ruizhi and Yan, Zheng and Li, Bin and Yu, Min and Sang, Qing and Tian, Guoling and Xu, Yao and Chen, Biaobang and Qu, Ronggui and Sun, Zhaogui and Sun, Xiaoxi and Jin, Li and He, Lin and Kuang, Yanping and Cowan, Nicholas J and Wang, Lei
Journal of Medical Genetics, ISSN 0022-2593, 10/2016, Volume 53, Issue 10, pp. 662 - 671
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16. Full Text Sequence analysis of pKF3-70 in Klebsiella pneumoniae: Probable origin from R100-like plasmid of Escherichia coli
by Yi, Huiguang and Xi, Yali and Liu, Jing and Wang, Junrong and Wu, Jinyu and Xu, Teng and Chen, Wei and Chen, Biaobang and Lin, Meili and Wang, Huan and Zhou, Mingming and Li, Jinsong and Xu, Zuyuan and Jin, Shouguang and Bao, Qiyu
PLoS ONE, ISSN 1932-6203, 01/2010, Volume 5, Issue 1, p. e8601
Background: Klebsiella pneumoniae is a clinically significant species of bacterium which causes a variety of diseases. Clinical treatment of this bacterial... 
REPLICATION | GENE | COMPARATIVE GENOMICS | DNA-SEQUENCE | MOBILIZATION | BIOLOGY | SPECTRUM BETA-LACTAMASE | INCOMPATIBILITY | NUCLEOTIDE-SEQUENCE | TOOL | Conjugation, Genetic | Escherichia coli - genetics | Plasmids | Base Sequence | Klebsiella pneumoniae - genetics | Molecular Sequence Data | Sequence Homology, Nucleic Acid | Drug resistance in microorganisms | Care and treatment | Pneumonia | Bacterial infections | Bacterial pneumonia | Analysis | Beta lactamases | Cross infection | Nosocomial infections | Health aspects | Klebsiella | Laboratories | Fines & penalties | Inverted repeat | Genomics | Genes | Insertion | Genomes | β-Lactamase | Drug resistance | Proteins | Conserved sequence | E coli | Phylogenetics | Bacteria | Life sciences | Bioinformatics | Informatics | Public health | Automation | Medical treatment | Multidrug resistant organisms | Antibiotics | Replication | Conjugation
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17. Full Text Identification of piggyBac-mediated insertions in Plasmodium berghei by next generation sequencing
by Cao, Yi and Rui, Bing and Wellems, Dianne L and Li, Mingxing and Chen, Biaobang and Zhang, Dongmei and Pan, Weiqing
Malaria Journal, ISSN 1475-2875, 2013, Volume 12, Issue 1, pp. 287 - 287
Background: The piggyBac transposon system provides a powerful forward genetics tool to study gene function in Plasmodium parasites via random insertion... 
Plasmodium | Next generation sequencing | PiggyBac transposon | LIFE-CYCLE | PARASITES | CELLS | INFECTIOUS DISEASES | MUTAGENESIS | VIVAX | FALCIPARUM | SHORT READ ALIGNMENT | TRANSPOSON | TROPICAL MEDICINE | GENOME SEQUENCE | PARASITOLOGY | TOOL | Animals | Genome, Protozoan | Plasmids | Recombination, Genetic | Plasmodium berghei - genetics | DNA, Protozoan - genetics | Mice | Mutagenesis, Insertional | DNA, Protozoan - chemistry | High-Throughput Nucleotide Sequencing - methods | Molecular Biology - methods | DNA Transposable Elements | Plasmodium falciparum | Transposons | Malaria | Analysis | Single nucleotide polymorphisms | Nucleotide sequencing | DNA sequencing | Mutation | Parasites | Microbiology | Genomics
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