Infertility ▲ Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)










Last Updated: Apr 26, 2016

• Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
  Wambergue Clémentine, et al. Human reproduction (Oxford, England) 2016 4
• A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia.
  Ma Qian, et al. Reproductive sciences (Thousand Oaks, Calif.) 2016 4
• Novel missense mutation in the CLPP gene causes Perrault Syndrome type-3 in a Turkish family.
  Dursun Fatma, et al. Journal of clinical research in pediatric endocrinology 2016 4
• Pros and cons of implementing a carrier genetic test in an infertility practice.
  Gil-Arribas Elisa et al. Current opinion in obstetrics & gynecology 2016 Apr
• SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis.
  Karimian Mohammad, et al. Journal of family & reproductive health 2015 11 (4) 155-63
• Effect of growth differentiation factor?9 C447T and G546A polymorphisms on the outcomes of in vitro fertilization.
  Serdy?ska-Szuster Monika, et al. Molecular medicine reports 2016 3
• [Evaluation of GPx1 Pro198Leu Polymorphism in Idiopathic Male Infertility].
  Mazjin M A, et al. Molekuliarnaia biologiia 0 0 (1) 89-93
• Gene-gene and gene-environment interactions on risk of male infertility: Focus on the metabolites.
  Hu Weiyue, et al. Environment international 2016 3 188-195
• Genetic Association Between Androgen Receptor Gene CAG Repeat Length Polymorphism and Male Infertility: A Meta-Analysis.
  Pan Bihui, et al. Medicine 2016 3 (10) e2878
• Expanded carrier screening in an infertile population: how often is clinical decision making affected?
  Franasiak Jason M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar
• [Relationship of MTHFR gene polymorphisms with infertility].
  Guo Kai-min, et al. Zhonghua nan ke xue = National journal of andrology 2016 2 (2) 171-4
• The "omics" of human male infertility: integrating big data in a systems biology approach.
  Carrell D T et al. Cell and tissue research 2016 Jan (1) 295-312
• Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health.
  Stuppia Liborio et al. Clinical epigenetics 2015 120
• Genetics of male infertility: from research to clinic.
  Krausz Csilla et al. Reproduction (Cambridge, England) 2015 Nov (5) R159-74
• Predictive value of GGN and CAG repeat polymorphisms of androgen receptors in testicular cancer: a meta-analysis.
  Jiang Weijun, et al. Oncotarget 2016 2
• The Relationship Between Endothelial Nitric Oxide Synthase Gene (NOS3) Polymorphisms, NOS3 Expression, and Varicocele.
  Kahraman Cigdem Yuce, et al. Genetic testing and molecular biomarkers 2016 2
• Mutational screening of the INSL3 gene in azoospermic males with a history of cryptorchidism.
  Huang X, et al. Andrologia 2016 2
• Genetic Polymorphism of CYP2D6 and Clomiphene Concentrations in Infertile Patients with Ovulatory Dysfunction Treated with Clomiphene Citrate.
  Ji Misuk, et al. Journal of Korean medical science 2016 2 (2) 310-4
• [Correlation between chromosomal polymorphisms and male sperm quality in population of Jilin Province].
  Peng Di, et al. Zhonghua yi xue za zhi 2015 9 (36) 2905-9
• The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.
  Rocca M S, et al. Andrology 2016 1
• Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
  Amirav Israel, et al. Human mutation 2016 1
• Sperm mitochondrial DNA 15bp deletion of cytochrome c oxidase subunit III is significantly associated with human male infertility in Pakistan.
  Mughal Irfan Afzal, et al. JPMA. The Journal of the Pakistan Medical Association 2016 1 (1) 3-7
• Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation.
  Gronwald Jacek et al. Fertility and sterility 2015 Dec
• Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers.
  Pastuszek Ewa, et al. Folia histochemica et cytobiologica / Polish Academy of Sciences, Polish Histochemical and Cytochemical Society 2015 12
• FMR6 may play a role in the pathogenesis of fragile X-associated premature ovarian insufficiency.
  Elizur Shai E, et al. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2015 12 1-4
• Deletion of GOLGA2P3Y but not GOLGA2P2Y is a risk factor for oligozoospermia.
  Sen Sanjukta, et al. Reproductive biomedicine online 2015 11
• Potential protective effect of a G>A SNP in the 3'UTR of HLA-A for Chlamydia trachomatis symptomatology and severity of infection.
  Jansen Marleen E, et al. Pathogens and disease 2015 12
• Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia.
  Dong Y, et al. Genetics and molecular research : GMR 2015 0 (4) 16041-9
• [Association of SPO11 and GST gene polymorphisms with idiopathic male infertility in ethnic Han Chinese].
  Feng Zhanqi, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 12 (6) 866-70
• Investigation of AZF microdeletions in patients with Klinefelter syndrome.
  Li L X, et al. Genetics and molecular research : GMR 2015 0 (4) 15140-7

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB