Genetics of endometriosis: heritability and candidate genes

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Heritable aspects of endometriosis

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Loss of heterozygosity on 10q23.3 and mutation of the tumor suppressor gene PTEN in benign endometrial cyst of the ovary: possible sequence progression from benign endometrial cyst to endometrioid carcinoma and clear cell carcinoma of the ovary.

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Frequent PTEN/MMAC mutations in endometrioid but not serous or mucinous epithelial ovarian tumors.

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Tissue microarray (TMA) technology: miniaturized pathology archives for high-throughputin situ studies

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Gene expression profiling: monitoring transcription and translation products using DNA microarrays and proteomics

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Angiogenic Factors in Endometriosis

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The familial risk of endometriosis

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Genetic factors contribute to the risk of developing endometriosis

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Allelotyping of endometriosis with adjacent ovarian carcinoma reveals evidence of a common lineage.

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Microsatellite analysis of endometriosis reveals loss of heterozygosity at candidate ovarian tumor suppressor gene loci.

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Estrogen biosynthesis in endometriosis: molecular basis and clinical relevance

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Heritability and molecular genetic studies of endometriosis

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Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata

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Evidence for monoclonal expansion of epithelial cells in ovarian endometrial cysts.

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Association of estrogen receptor gene polymorphisms with endometriosis

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Possible involvement of hMLH1, p16INK4a and PTEN in the malignant transformation of endometriosis

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Possible involvement of arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1 genes in the development of endometriosis

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DNA microarray analysis of gene expression markers of endometriosis

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Genome-wide cDNA microarray analysis of gene-expression profiles involved in ovarian endometriosis.

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GSTM1 null polymorphism and susceptibility to endometriosis and ovarian cancer

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Protein based microarrays: A tool for probing the proteome of cancer cells and tissues

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Linkage and association studies of the relationship between endometriosis and genes encoding the detoxification enzymes GSTM1, GSTT1 and CYP1A1

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PROGINS receptor gene polymorphism is associated with endometriosis

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Glutathione S-transferase M1 gene polymorphism and susceptibility to endometriosis in a French population

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Heritage aspects of endometriosis. II. Clinical characteristics of familial endometriosis.

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Genetics in obstetrics and gynecology

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Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women

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Heritable aspects of endometriosis

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Familial inheritance of endometriosis in a British population. A case control study

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p53 mutations and overexpression affect prognosis of ovarian endometrioid cancer but not clear cell cancer

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Association of vitamin D and estrogen receptor gene polymorphism with the effect of hormone replacement therapy on bone mineral density in Japanese women

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Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis

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Implantation Defects in Infertile Women with Endometriosis

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The international endogene study: a collection of families for genetic research in endometriosis

Treloar, S. A., Hadfield, R. M., Montgomery, G. W., Lambert, A. W., Wicks, J., Barlow, D. H., O’Connor, D. T., & Kennedy, S. (2002) · Fertility and Sterility · doi:10.1016/s0015-0282(02)03341-1 · Cited by 90 · see citing works

Analysis of clonality in human endometriotic cysts based on evaluation of X chromosome inactivation in archival formalin-fixed, paraffin-embedded tissue.

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Heritability and Molecular Genetic Studies of Endometriosis

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Genetics of endometriosis

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Emerging role of genomics in endometriosis research

Taylor, R. N., Lundeen, S. G., & Giudice, L. C. (2002) · Fertility and Sterility · doi:10.1016/s0015-0282(02)03325-3 · Cited by 77 · see citing works

Intercellular adhesion molecule-1 (ICAM-1) gene polymorphisms in endometriosis

Viganò, P. (2003) · Molecular Human Reproduction · doi:10.1093/molehr/gag002 · Cited by 74 · see citing works

Endometriosis: candidate genes

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Increased heterogeneity of chromosome 17 aneuploidy in endometriosis

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Microsatellite DNA assays reveal an allelic imbalance in p16Ink4, GALT, p53, and APOA2 loci in patients with endometriosis

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Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT)

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Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci on p53 expression

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Genetics in Obstetrics and Gynecology

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Altered expression of a cell-cycle suppressor gene, Tob-1, in endometriotic cells by cDNA array analyses

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Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH)

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Association between endometriosis and N-acetyl transferase 2 polymorphisms in a UK population

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Circulating Ovarian Steroids and Endometrial Matrix Metalloproteinases (MMPs)

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Genetics of Endometriosis: A Review of the Positional Cloning Approaches

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Magnetic resonance imaging to assess familial risk in relatives of women with endometriosis

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Affected sib-pair analysis in endometriosis

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Progesterone‐Mediated Endometrial Maturation Limits Matrix Metalloproteinase (MMP) Expression in an Inflammatory‐like Environment

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Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population

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p21 gene codon 31 arginine/serine polymorphism: Non‐association with endometriosis

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Glutathione S-transferase M1 and T1 genotypes and endometriosis risk: a case-controlled study.

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Endometriosis is not associated with or linked to the GALT gene

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Development of a web site for the genetic epidemiology of endometriosis

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Polymorphism of the Interleukin-1β Gene and Endometriosis

Wieser, F., Hefler, L., Tempfer, C., Vlach, U., Schneeberger, C., Huber, J., & Wenzl, R. (2003) · Journal of the Society for Gynecologic Investigation · doi:10.1016/s1071-5576(03)00006-6 · Cited by 17 · see citing works

Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women

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The heritability of endometriosis in large Utah families

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NAT2 and GSTM1 DNA polymorphisms: increased GSTM1 (active) genotypes in endometriosis

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Preliminary results from two combined genome-wide scans in endometriosis

Treloar, S. A., & Kennedy, S. H. (2002) · Fertility and Sterility · doi:10.1016/s0015-0282(01)03071-0 · Cited by 9 · see citing works

Analysis of G/R241 intercellular adhesion molecule-1 (ICAM-1) gene polymorphism in a group of Italian endometriosis patients

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Global analysis of differentially expressed genes in endometrium with or without endometriosis using human cDNA microarray

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Association of estrogen receptor gene restriction fragment length polymorphisms and endometriosis

Fu, Q., & Wei, L. (2002) · Fertility and Sterility · doi:10.1016/s0015-0282(01)03054-0 · Cited by 6 · see citing works

International Endogene Study finds strong evidence of susceptibility loci for endometriosis at two genomic regions

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Aneurisma de vena poplítea

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Identification of differential gene expression in human endometriosis by subtractive hybridization and gene expression profiling with real-time PCR

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Linkage or association to the GALT gene on chromosome 9 is not demonstrable in endometriosis

Geirsson, R. T., Stefánsson, H., Kristin, J., Einarsdottir, A., Frigge, M. L., & Gulcher, J. R. (2002) · Fertility and Sterility · doi:10.1016/s0015-0282(01)03073-4 · Cited by 4 · see citing works

Isolation, characterization and analysis of the ALX4 promotor region

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Analysis of the defensin gene family for DNA sequence variants.

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Familial trend of dysmenorrhea and endometriosis—a study from members of endometriosis association, Taiwan

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Endometriosis still a challenge.

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Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France

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Cellular and molecular basis for endometriosis-associated infertility

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Chinese herbal medicine for endometriosis

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Endometriosis Associated Infertility: A Critical Review and Analysis on Etiopathogenesis and Therapeutic Approaches

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Polymorphisms and endometriosis: A systematic review and meta-analyses

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Altered genome-wide methylation in endometriosis

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Genetic Basis of Endometriosis

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Expression of interleukin-10 in patients with adenomyosis

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Genetics and Genomics of Endometriosis

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Genetics of endometriosis: current status and prospects

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Risk for estrogen-dependent diseases in relation to phthalate exposure and polymorphisms of CYP17A1 and estrogen receptor genes

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Reduced Fecundity in Female Rats with Surgically Induced Endometriosis and in Their Daughters: A Potential Role for Tissue Inhibitors of Metalloproteinase 11

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Chinese herbal medicine for endometriosis

Flower, A., Liu, J., Chen, S., Lewith, G. T., & Little, P. S. (2009) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd006568.pub2 · Cited by 56 · see citing works

Endometriosis risk in relation to naevi, freckles and skin sensitivity to sun exposure: the French E3N cohort

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Serum anti-inflammatory cytokines for the evaluation of inflammatory status in endometriosis

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Expression of interleukin-8 and monocyte chemotactic protein-1 in adenomyosis

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Peripheral and Endometrial Dendritic Cell Populations during the Normal Cycle and in the Presence of Endometriosis

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Genetics of Endometriosis

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The Association Between Endometriosis and Polymorphisms in the Interleukin‐1 Family Genes in K orean Women

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Hypomethylation of the GSTM1 promoter is associated with ovarian endometriosis

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LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility

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Transforming Growth Factor-β1 Gene Polymorphisms in Korean Women With Endometriosis

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Deregulation of LOXL1 and HTRA1 Gene Expression in Endometriosis

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Analysis of two polymorphisms in the promoter region of matrix metalloproteinase 1 and 3 genes in women with endometriosis

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Leveraging electronic health record data for endometriosis research

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No evidence for genetic association with the let-7 microRNA-binding site or other common KRAS variants in risk of endometriosis

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Altered Expression of Interleukin-18 System mRNA at the Level of Endometrial Myometrial Interface in Women with Adenomyosis

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Future of Endometriosis Research

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Genetic polymorphisms in patients with endometriosis: an analytical study in Goiânia (Central West of Brazil)

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Surgically treated ovarian endometriosis association with BRCA1 and BRCA2 mutations

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Quantitative DNA perturbations of p53 in endometriosis: analysis of American and Icelandic cases

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The Expression of Cyclophilin A in Ovarian Endometrioma: Its Correlation with Recurrence and Vascularity

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Malignant Transformation of Endometriosis

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Simple Immunocytochemistry from Menstrual Blood in Diagnosis of Endometriosis

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A Comparative Cross-Platform Meta-Analysis to Identify Potential Biomarker Genes Common to Endometriosis and Recurrent Pregnancy Loss

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ENDOMETRIOSIS FAMILIAR: REPORTE DE UNA FAMILIA CON HERENCIA MENDELIANA

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Predisposing and Protective Factors of Endometriosis

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Prise en charge diagnostique et thérapeutique de l'endométriose par les médecins généralistes de Seine-Maritime

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Demographic, biological and dietary characteristics associated with endometriosis in a group of Sri Lankan women

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Endometriosis and Ovarian Cancer

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Chinese herbal medicine for endometriosis

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Análise da Expressão Gênica Diferencial em Endometriose

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Hibridação Genômica Comparativa em Endometriose

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Ser312Gly Polymorphism of the HSD17β1 Gene is not Associated with Endometriosis in Brazilian Patients

dos Santos, R. P., OLIVEIRA, C. B. N. D., Falagan-Lotsch, P., Souza, M. G., Lasmar, R. B., Duarte, L. B., Navarro, P. A., Granjeiro, J. M., & Penna, I. A. D. A. (2014) · Journal of Endometriosis and Pelvic Pain Disorders · doi:10.5301/je.5000195

Genetic factors related to endometriosis: present and future

Blasio, A. M. D., Somigliana, E., & Viganò, P. (2007) · Expert Review of Obstetrics & Gynecology · doi:10.1586/17474108.2.6.791

Frequency of Polymorphism Alu Insertion in Progesterone Receptor Gene in Endometriosis

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Unified Predictive Model for Endometriosis: Merging Clinical, Self-reporting and Genetic InformationPreprint

Blass, I., Sahar, T., Shraibman, A., Ofer, D., Rappoport, N., & Michal Linial, B. (2022) · medRxiv · doi:10.1101/2022.03.20.22272657

Unravelling the Complexity of Endometriosis: Insights into its Multifactorial Etiology and Clinical Management

Deepthi, Muninathan, N., Suresh, A., Baskaran, K., & Aswathi (2023) · Journal Of Advanced Zoology · doi:10.17762/jaz.v44i3.628

Recherche de biomarqueurs de l’endométriose par des approches de protéomique et de génomique intégrative

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A genome-wide association study identifies GNPNAT1 as a candidate risk locus for endometriosis in the Tehran Cardio-metabolic genetic study

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Genetic Basis of Endometriosis

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Heritability and Molecular Genetic Studies of Endometriosis

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Genetic factors related to endometriosis: present and future

Blasio, A. M. D., Somigliana, E., & Viganò, P. (2007) · Expert Review of Obstetrics & Gynecology · doi:10.1586/17474108.2.6.791