Joe Leigh Simpson

STUDY QUESTION: Can a core outcome set to standardize outcome selection, collection and reporting across future infertility research be developed? SUMMARY ANSWER: A minimum data set, known as a core outcome set, has been developed for rand…

STUDY QUESTION: Can consensus definitions for the core outcome set for infertility be identified in order to recommend a standardized approach to reporting? SUMMARY ANSWER: Consensus definitions for individual core outcomes, contextual sta…

STUDY QUESTION: Can a consensus and evidence-driven set of terms and definitions be generated to be used globally in order to ensure consistency when reporting on infertility issues and fertility care interventions, as well as to harmonize …

BACKGROUND: Primary ovarian insufficiency (POI) is characterized by marked heterogeneity, but with a significant genetic contribution. Identifying exact causative genes has been challenging, with many discoveries not replicated. It is timel…

OBJECTIVE: To investigate quantitative aberrations involving p53 copy numbers in eutopic endometrial and endometriotic tissue from two populations. DESIGN: Comparative analysis of normal and diseased tissue. SETTING: Tissue specimens coll…

Endometriosis is a complex gynecologic disorder that has long been recognized as showing heritable tendencies, with recurrence risks of 5-7% for first-degree relatives. Familial and epidemiologic studies support that this disease is a genet…

Endometriosis is a complex gynecologic disorder that affects as many as 10-15% of premenopausal women. Epidemiologic studies have confirmed that this disease is a genetic disorder of polygenic/multifactorial inheritance. The disorder has lo…

Tissue microarrays (TMAs) are useful tools for studying protein expression in endometriosis. Tissue microarray analyses of immunohistochemical profiles of estrogen receptor-alpha and P receptor corroborate previously published results from …

Endometriosis long has been recognized as showing heritable tendencies, with recurrence risks of 5% to 7% for first-degree relatives. The risk indicates that polygenic and multifactorial etiology is far more likely to be the cause than mend…

Endometriosis is inherited in polygenic/multifactorial fashion, with recurrence risks of 5-7% for first-degree relatives. The current task is to determine the number and location of causative genes. This review initially supports the basis …

Endometriosis is well established as a condition showing heritable tendencies. Polygenic/multifactorial etiology appears far more likely to be the etiology than Mendelian inheritance. The current task is to determine the number and location…

Pivotal genetic information has been derived for a host of rare genetic disorders, but progress has been much slower in relation to the common causes of female infertility. In this chapter, we shall illustrate the approaches being applied i…

PROBLEM: Genetic predisposition to endometriosis is well established, but the gene(s) involved largely remain unknown. Although endometriosis is considered a benign disease, it displays several features similar to malignancy: altered morpho…

Female infertility results from a myriad of causes – genetic and nongenetic. Sometimes a genetic aetiology is clearly evident. In other disorders heritable tendencies exist, but the precise genetic aetiology remains obscure. In this communi…

Endometriosis is a common disease defined as the growth of endometrial tissue outside the uterine cavity that often results in a vast array of gynaecological problems including dyspareunia, dysmenorrhoea, pelvic pain and infertility. Despit…

OBJECTIVE: Endometriosis is a complex gynecologic disorder that may display features similar to malignancy, including aggressive growth and localized invasion of the myometrium or spread to various organs outside the uterus. Molecular studi…

Endometriosis affects 10-15% of women of reproductive age and is a common cause of infertility and pelvic pain. Although endometriosis is characterized by abnormal growth or turn-over of cells, the genetic changes involved remain unclear. W…