相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases
Gaber Bergant et al.
GENETICS IN MEDICINE (2018)
Single-cell RNA-seq uncovers dynamic processes and critical regulators in mouse spermatogenesis
Yao Chen et al.
CELL RESEARCH (2018)
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation
Mayer Ales et al.
GENETICS IN MEDICINE (2016)
UPF2-Dependent Nonsense-Mediated mRNA Decay Pathway Is Essential for Spermatogenesis by Selectively Eliminating Longer 3′ UTR Transcripts
Jianqiang Bao et al.
PLOS GENETICS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Neurl4 contributes to germ cell formation and integrity in Drosophila
Jennifer Jones et al.
BIOLOGY OPEN (2015)
Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics
Linn Fagerberg et al.
MOLECULAR & CELLULAR PROTEOMICS (2014)
Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome
Anne Fruehmesser et al.
FERTILITY AND STERILITY (2013)
GENETIC CAUSES OF MALE INFERTILITY
D. Plaseska-Karanfilska et al.
BALKAN JOURNAL OF MEDICAL GENETICS (2012)
APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease
Joris A. Veltman et al.
NATURE REVIEWS GENETICS (2012)
De Novo Gene Disruptions in Children on the Autistic Spectrum
Ivan Iossifov et al.
NEURON (2012)
Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism
Anna Cariboni et al.
HUMAN MOLECULAR GENETICS (2011)
Dysregulation of Semaphorin7A/β1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertility
Andrea Messina et al.
HUMAN MOLECULAR GENETICS (2011)
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Bin Xu et al.
NATURE GENETICS (2011)
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Brian J. O'Roak et al.
NATURE GENETICS (2011)
Expression of CD1d Protein in Human Testis Showing Normal and Abnormal Spermatogenesis
Mohamed A. Adly et al.
ULTRASTRUCTURAL PATHOLOGY (2011)
Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study
Olaf Sunnotel et al.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY (2010)
Semaphorin 4D regulates gonadotropin hormone-releasing hormone-1 neuronal migration through PlexinB1-Met complex
Paolo Giacobini et al.
JOURNAL OF CELL BIOLOGY (2008)
The biology of infertility: research advances and clinical challenges
Martin M. Matzuk et al.
NATURE MEDICINE (2008)
The distribution of fitness effects of new mutations
Adam Eyre-Walker et al.
NATURE REVIEWS GENETICS (2007)
Neuropilins and their ligands are important in the migration of gonadotropin-releasing hormone neurons
Anna Cariboni et al.
JOURNAL OF NEUROSCIENCE (2007)
CD1d-unrestricted human NKT cells release chemokines upon Fas engagement
M Giroux et al.
BLOOD (2005)
Identification of unique, differentiation stage-specific patterns of expression of the bromodomain-containing genes Brd2, Br3, Brd4, and Brdt in the mouse testis
EY Shang et al.
GENE EXPRESSION PATTERNS (2004)
Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion:: Primary role of DQB1*0604
Y Matsuzaka et al.
TISSUE ANTIGENS (2002)
Susceptibility gene for non-obstructive azoospermia located near HLA-DR and -DQ loci in the HLA class II region
A Tsujimura et al.
HUMAN GENETICS (2002)
Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
R Edgar et al.
NUCLEIC ACIDS RESEARCH (2002)
分享论文
