The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility

Association of the MDR1 (ABCB1) gene 3435C> T polymorphism with male infertility

(2014) Marek Droździk et al.   Pharmacological Reports

Increased frequencies of cytochrome P4501A1 polymorphisms in infertile men

(2010) E. Fritsche et al.   ANDROLOGIA

Perturbation of genomic imprinting in oligozoospermia

(2010) Doria Filipponi et al.   Epigenetics

Third-generation sequencing fireworks at Marco Island

(2010) David J Munroe et al.   NATURE BIOTECHNOLOGY

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

ERCC1 and ERCC2 polymorphisms and risk of idiopathic azoospermia in a Chinese population

(2010) Guixiang Ji et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Gene polymorphisms/mutations relevant to abnormal spermatogenesis

(2010) Francesca Nuti et al.   REPRODUCTIVE BIOMEDICINE ONLINE

FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia

(2010) Wei Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Genotype to Phenotype: A Complex Problem

(2010) R. D. Dowell et al.   SCIENCE

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

The Use of Transgenic Mouse Models in the Study of Male Infertility

(2010) Susan Tamowski et al.   Systems Biology in Reproductive Medicine

Good Semen Quality and Life Expectancy: A Cohort Study of 43,277 Men

(2009) T. K. Jensen et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

The HapMap and Genome-Wide Association Studies in Diagnosis and Therapy

(2009) Teri A. Manolio et al.   Annual Review of Medicine

c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population

(2009) Dan Su et al.   ASIAN JOURNAL OF ANDROLOGY

A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest

(2009) Toshinobu Miyamoto et al.   ASIAN JOURNAL OF ANDROLOGY

Identification of Potentially Damaging Amino Acid Substitutions Leading to Human Male Infertility1

(2009) Anastasia Kuzmin et al.   BIOLOGY OF REPRODUCTION

The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia

(2009) Keqian Xu et al.   CLINICA CHIMICA ACTA

Single Nucleotide Polymorphism Analysis of the Folliclestimulating Hormone (FSH) Receptor in Japanese with Male Infertility: Identification of Codon Combination with Heterozygous Variations of the Two Discrete FSH Receptor Gene

(2009) Chiharu SHIMODA et al.   ENDOCRINE JOURNAL

Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men

(2009) Céline Chalas Boissonnas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm

(2009) Hisato Kobayashi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Endonuclease-sensitive regions of human spermatozoal chromatin are highly enriched in promoter and CTCF binding sequences

(2009) A. Arpanahi et al.   GENOME RESEARCH

Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality

(2009) G. Ji et al.   HUMAN REPRODUCTION

Single-Nucleotide Polymorphisms of the PRDM9 (MEISETZ) Gene in Patients With Nonobstructive Azoospermia

(2009) S. Irie et al.   JOURNAL OF ANDROLOGY

Genome-Wide Study of Single-Nucleotide Polymorphisms Associated With Azoospermia and Severe Oligozoospermia

(2009) K. I. Aston et al.   JOURNAL OF ANDROLOGY

Functional polymorphism in H2BFWT-5′UTR is associated with susceptibility to male infertility

(2009) Jinu Lee et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Increased Prevalance of the −211 T Allele of Follicle Stimulating Hormone (FSH) β Subunit Promoter Polymorphism and Lower Serum FSH in Infertile Men

(2009) Marina Grigorova et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genomic copy number variation, human health, and disease

(2009) Louise V Wain et al.   LANCET

The human sperm epigenome and its potential role in embryonic development

(2009) D. T. Carrell et al.   MOLECULAR HUMAN REPRODUCTION

NANOS3gene mutations in men with isolated sterility phenotype

(2009) Kamila Kusz et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility

(2009) Manuela Simoni et al.   Pharmacogenetics and Genomics

Paternal DNA packaging in spermatozoa: more than the sum of its parts? DNA, histones, protamines and epigenetics

(2009) David Miller et al.   REPRODUCTION

The Genetics of Male Infertility

(2009) Thomas Walsh et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Analysis of the Meiotic Recombination GeneREC8for Sequence Variations in a Population with Severe Male Factor Infertility

(2009) Jeanine Griffin et al.   Systems Biology in Reproductive Medicine

New strategies and emerging technologies for massively parallel sequencing: applications in medical research

(2009) Elaine R Mardis   Genome Medicine

The association of 4a4b polymorphism of endothelial nitric oxide synthase (eNOS) gene with the sperm morphology in Korean infertile men

(2008) Yeo-Jin Yun et al.   FERTILITY AND STERILITY

Influence of polymorphism of glutathione S-transferase T1 on Chinese infertile patients with varicocele

(2008) Qifei Wu et al.   FERTILITY AND STERILITY

Sequence alterations in the YBX2 gene are associated with male factor infertility

(2008) Sue Hammoud et al.   FERTILITY AND STERILITY

Tumor necrosis factor-alpha -308 polymorphism in infertile men with altered sperm production or motility

(2008) V. Tronchon et al.   HUMAN REPRODUCTION

Polymorphisms in the human cysteine-rich secretory protein 2 (CRISP2) gene in Australian men

(2008) D. Jamsai et al.   HUMAN REPRODUCTION

Cytogenetic determinants of male fertility

(2008) R.H. Martin   HUMAN REPRODUCTION UPDATE

Mutation Screening and Association Study of the TSSK4 Gene in Chinese Infertile Men With Impaired Spermatogenesis

(2008) D. Su et al.   JOURNAL OF ANDROLOGY

Novel Variants in UBE2B Gene and Idiopathic Male Infertility

(2008) V. Suryavathi et al.   JOURNAL OF ANDROLOGY

Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia

(2008) C.J. Marques et al.   MOLECULAR HUMAN REPRODUCTION

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE

Genome instability: a mechanistic view of its causes and consequences

(2008) Andrés Aguilera et al.   NATURE REVIEWS GENETICS