Clinical genetic testing for male factor infertility: current applications and future directions (Q26996604)

D. T. Carrell

series ordinal

2

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language of work or name

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May 2014

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2

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PubMed

issue

3

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PubMed

page(s)

339-50

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Natural history of seminiferous tubule degeneration in Klinefelter syndrome

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A review of genome-wide approaches to study the genetic basis for spermatogenic defects

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Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent

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Genome-wide sperm deoxyribonucleic acid methylation is altered in some men with abnormal chromatin packaging or poor in vitro fertilization embryogenesis.

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Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens.

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Delayed childbearing: effects on fertility and the outcome of pregnancy

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Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders

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Morbidity and mortality in Klinefelter syndrome (47,XXY).

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Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter's syndrome.

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Epigenetics of the male gamete

21 January 2018

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

21 January 2018

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Use of automated imaging and analysis technology for the detection of aneuploidy in human sperm

21 January 2018

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Androgen receptor gene CAG and GGN repeat polymorphisms in Chilean men with primary severe spermatogenic failure

21 January 2018

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Mutations in SOHLH1 gene associate with nonobstructive azoospermia

21 January 2018

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Environmental epigenetics: prospects for studying epigenetic mediation of exposure-response relationships

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Mutations and polymorphisms in FSH receptor: functional implications in human reproduction

21 January 2018

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Male infertility: role of genetic background

21 January 2018

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Bone mass in subjects with Klinefelter syndrome: role of testosterone levels and androgen receptor gene CAG polymorphism.

21 January 2018

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Toward a pharmacogenetic approach to male infertility: polymorphism of follicle-stimulating hormone beta-subunit promoter.

21 January 2018

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Guidelines for the appropriate use of genetic tests in infertile couples.

21 January 2018

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Follicle-stimulating hormone treatment of male infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Hints of hidden heritability in GWAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Genetically determined dosage of follicle-stimulating hormone (FSH) affects male reproductive parameters

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Clinical review: Klinefelter syndrome--a clinical update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Genome-wide analysis identifies changes in histone retention and epigenetic modifications at developmental and imprinted gene loci in the sperm of infertile men.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Chromosomal disorders and male infertility

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter's karyotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Male endocrine dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

The sperm epigenome and potential implications for the developing embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Paternal aging and associated intraindividual alterations of global sperm 5-methylcytosine and 5-hydroxymethylcytosine levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Does the outcome of ICSI in cases of obstructive azoospermia depend on the origin of the retrieved spermatozoa or the cause of obstruction? A comparative analysis

21 January 2018

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Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation

21 January 2018

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Vasectomy, vas ligation and vas occlusion

21 January 2018

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Allele-specific epigenetic modification: a molecular mechanism for gene-environment interactions in stress-related psychiatric disorders?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Clinical and genetic features of patients with congenital unilateral absence of the vas deferens

21 January 2018

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Rate of de novo mutations and the importance of father's age to disease risk

21 January 2018

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Heritability of reproductive hormones in adult male twins

21 January 2018

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21 January 2018

Klinefelter's syndrome

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Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes

21 January 2018

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Evidence for association of sex hormone-binding globulin and androgen receptor genes with semen quality.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Birth after preimplantation diagnosis of the cystic fibrosis delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Genetic profile of SNP(s) and ovulation induction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Pathogenic variants screening in five non-obstructive azoospermia-associated genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Cytogenetic determinants of male fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Genetic causes of spermatogenic failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Clinical Review#: State of the art for genetic testing of infertile men.

21 January 2018

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Effect of antioxidants on sperm genetic damage.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

A user's guide to the encyclopedia of DNA elements (ENCODE)

21 January 2018

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Sex, rebellion and decadence: the scandalous evolutionary history of the human Y chromosome

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Gene polymorphisms/mutations relevant to abnormal spermatogenesis

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

The genetic causes of male factor infertility: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Four pregnancies in nonmosaic Klinefelter's syndrome using cryopreserved-thawed testicular spermatozoa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Success rate of microsurgical multiple testicular sperm extraction and sperm presence in the ejaculate in korean men with y chromosome microdeletions

21 January 2018

1 reference

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Clinical data and parenthood of 63 infertile and Y-microdeleted men.

21 January 2018

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Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Circulating Anti-Müllerian Hormone Levels in Adult Men Are under a Strong Genetic Influence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Chromosomal aberrations and aneuploidies of spermatozoa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

SRY-negative 46,XX male with normal genitals, complete masculinization and infertility

21 January 2018

1 reference

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Localization of sperm during microdissection testicular sperm extraction in men with nonobstructive azoospermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Klinefelter syndrome: how, what, and why?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

It's not all about the testes: medical issues in Klinefelter patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Cystic fibrosis and formes frustes of CFTR-related disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Genetic factors as a cause of miscarriage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Follicle-stimulating hormone treatment in normogonadotropic infertile men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Y chromosome gr/gr deletions are a risk factor for low semen quality

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

AZF deletions and Y chromosomal haplogroups: history and update based on sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Sexual function and clinical features of patients with Klinefelter's syndrome with the chief complaint of male infertility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Cytogenetic survey of 1,007 infertile males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Genotype and phenotype in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Pharmacogenetics of testosterone replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Molecular and Clinical Characterization of Y Chromosome Microdeletions in Infertile Men: A 10-Year Experience in Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Are Adolescent Boys with Klinefelter Syndrome Androgen Deficient? A Longitudinal Study of Finnish 47,XXY Boys

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

Aging may adversely affect testicular sperm recovery in patients with Klinefelter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

No association found between gr/gr deletions and infertility in Brazilian males

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2047-2927.2014.00200.X

10.1111/J.2047-2927.2014.00200.X

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

24711280

1 reference

Consolidated OpenCitations Corpus – April 2017