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1. Full Text Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report
by Kang, Jia and Mao, Meng and Zhang, Ye and Ai, Fang-Fang and Zhu, Lan
Medicine, ISSN 0025-7974, 11/2018, Volume 97, Issue 45, p. e12822
Rationale: Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect (VACTERL) association... 
rare diseases | MEDICINE, GENERAL & INTERNAL | mullerian duct abnormality | ANOMALIES | distal vaginal atresia | VACTERL association | Abnormalities, Multiple - etiology | Anus, Imperforate - etiology | Solitary Kidney - congenital | Heart Defects, Congenital - etiology | Humans | Vagina - abnormalities | Uterus - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Spine - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - etiology | Rectal Fistula - congenital | Adolescent | Female | Heart Defects, Congenital - diagnosis | Fingers - abnormalities | Anus, Imperforate - diagnosis | Scoliosis - congenital | Trachea - abnormalities | Case studies | Care and treatment | Abnormalities | Diagnosis | Children | Genitourinary organs | Genital diseases, Female | Diseases
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2. Full Text Two abnormalities on diagnostic laparoscopy
by Keedwell, Richard and Byrne, Dominic
BMJ (Online), ISSN 0959-8146, 2018, Volume 362, p. k3655
MEDICINE, GENERAL & INTERNAL | HORN | Uterus - pathology | Ovarian Cysts - complications | Ovarian Cysts - diagnosis | Urogenital Abnormalities - diagnosis | Humans | Pregnancy, Cornual - diagnosis | Uterus - abnormalities | Laparoscopy | Pregnancy | Dyspareunia - etiology | Urogenital Abnormalities - pathology | Pelvic Pain - etiology | Urogenital Abnormalities - complications | Pregnancy, Cornual - pathology | Adult | Female
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3. Full Text Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)
by Oppelt, Patricia G and Lermann, Johannes and Strick, Reiner and Dittrich, Ralf and Strissel, Pamela and Rettig, Ingo and Schulze, Christine and Renner, Stefan P and Beckmann, Matthias W and Brucker, Sara and Rall, Katharina and Mueller, Andreas
Reproductive Biology and Endocrinology, ISSN 1477-7827, 08/2012, Volume 10, Issue 1, pp. 57 - 57
Background: The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with... 
Malformations | Renal abnormalities | Diagnosis | MRKH syndrome | Staging | VCUAM | CLASSIFICATION | MULLERIAN ANOMALIES | TRACT | REPRODUCTIVE BIOLOGY | NEOVAGINA | VAGINA | AGENESIS | ENDOCRINOLOGY & METABOLISM | GENITAL MALFORMATIONS | Abnormalities, Multiple - pathology | Uterus - pathology | Vagina - diagnostic imaging | Kidney - pathology | Humans | Vagina - abnormalities | Spine - abnormalities | Congenital Abnormalities | Kidney - diagnostic imaging | Ultrasonography | Adult | Female | Retrospective Studies | Spine - pathology | Mullerian Ducts - diagnostic imaging | Vagina - pathology | 46, XX Disorders of Sex Development | Somites - diagnostic imaging | Uterus - abnormalities | Abnormalities, Multiple - diagnostic imaging | Mullerian Ducts - pathology | Mullerian Ducts - abnormalities | Spine - diagnostic imaging | Kidney - abnormalities | Adolescent | Somites - abnormalities | Somites - pathology | Uterus - diagnostic imaging | Abnormalities, Multiple - classification
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4. Full Text Placental implantation abnormalities: A modern approach
by Vahanian, Sevan A and Vintzileos, Anthony M
Current Opinion in Obstetrics and Gynecology, ISSN 1040-872X, 11/2016, Volume 28, Issue 6, pp. 477 - 484
Purpose of review Placental implantation abnormalities (PIAs) comprise a large group of disorders associated with significant maternal, fetal, and neonatal... 
Placenta accreta | Placenta previa | Placental implantation abnormalities | Ultrasound | Morbidly adherent placenta | ACCRETA | DIAGNOSIS | placenta accreta | placenta previa | VASA-PREVIA | RISK | morbidly adherent placenta | BIRTH | placental implantation abnormalities | PRETERM | ultrasound | OBSTETRICS & GYNECOLOGY | Decision Making | Uterus - pathology | Postpartum Hemorrhage - prevention & control | Prospective Studies | Humans | Risk Factors | Embryo Implantation | Placenta Previa - diagnosis | Pregnancy | Cesarean Section | Magnetic Resonance Imaging | Time Factors | Delivery, Obstetric | Infant, Premature | Placenta - pathology | Ultrasonography | Placenta Diseases - pathology | Placenta Previa - pathology | Female | Cicatrix - pathology | Retrospective Studies | Research Design | Hysterotomy - adverse effects
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5. Full Text High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
by Nik-Zainal, Serena and Strick, Reiner and Storer, Mekayla and Huang, Ni and Rad, Roland and Willatt, Lionel and Fitzgerald, Tomas and Martin, Vicki and Sandford, Richard and Carter, Nigel P and Janecke, Andreas R and Renner, Stefan P and Oppelt, Patricia G and Oppelt, Peter and Schulze, Christine and Brucker, Sara and Hurles, Matthew and Beckmann, Matthias W and Strissel, Pamela L and Shaw-Smith, Charles
Journal of Medical Genetics, ISSN 0022-2593, 03/2011, Volume 48, Issue 3, pp. 197 - 204
BackgroundCongenital malformations involving the Müllerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and... 
MICRODELETION | DIAGNOSIS | OBESITY | AUTISM | ANOMALIES | HAUSER-SYNDROME | AGENESIS | GENETICS & HEREDITY | 16P11.2 | REARRANGEMENTS | DELETION | Chromosome Deletion | Congenital Abnormalities - epidemiology | 46, XX Disorders of Sex Development - genetics | Genetic Testing | Humans | Vagina - abnormalities | Uterus - abnormalities | 46, XX Disorders of Sex Development - epidemiology | Syndrome | DNA Copy Number Variations | Incidence | Spine - abnormalities | Young Adult | Mullerian Ducts - abnormalities | Congenital Abnormalities - genetics | Kidney - abnormalities | Adolescent | Somites - abnormalities | Abnormalities, Multiple - epidemiology | Adult | Female | Abnormalities, Multiple - genetics | Cohort Studies | Quantitative trait loci | Genetic aspects | Research | Genetic variation | Genital diseases, Female
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6. Full Text Comparison of different diagnostic procedures for the staging of malformations associated with Mayer-Rokitansky-Küster-Hauser syndrome
by Lermann, Johannes, M.D and Mueller, Andreas, M.D and Wiesinger, Erika, M.D and Häberle, Lothar, Ph.D and Brucker, Sara, M.D and Wallwiener, Diethelm, M.D and Dittrich, Ralf, Ph.D and Renner, Stefan P., M.D and Beckmann, Matthias W., M.D and Oppelt, Patricia G., M.D
Fertility and Sterility, ISSN 0015-0282, 2011, Volume 96, Issue 1, pp. 156 - 159
Objective To compare different diagnostic procedures for staging malformations associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Design... 
Internal Medicine | Obstetrics and Gynecology | malformations | Diagnosis | MRKH syndrome | staging | VCUAM | SONOGRAPHY | HYSTEROSALPINGOGRAPHY | CLASSIFICATION | ACCURACY | OBSTETRICS & GYNECOLOGY | REPRODUCTIVE BIOLOGY | NEOVAGINA | AGENESIS | GENITAL MALFORMATIONS | MULLERIAN DUCT ANOMALIES | Vagina - diagnostic imaging | Humans | Vagina - abnormalities | 46, XX Disorders of Sex Development - diagnosis | Cervix Uteri - diagnostic imaging | Spine - abnormalities | Young Adult | Congenital Abnormalities | Ultrasonography | Adult | Female | Retrospective Studies | 46, XX Disorders of Sex Development - diagnostic imaging | Adnexa Uteri - diagnostic imaging | Uterus - abnormalities | Abnormalities, Multiple - diagnostic imaging | 46, XX Disorders of Sex Development - classification | Mullerian Ducts - abnormalities | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Adolescent | Somites - abnormalities | Uterus - diagnostic imaging | Cervix Uteri - abnormalities | Abnormalities, Multiple - classification | Adnexa Uteri - abnormalities | Cohort Studies
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7. Full Text Mayer-Rokitansky-Küster-Hauser syndrome: a review of 245 consecutive cases managed by a multidisciplinary approach with vaginal dilators
by Edmonds, D. Keith, F.R.C.O.G and Rose, Gillian L., F.R.C.O.G and Lipton, Michelle G., D.Clin.Psy and Quek, Julie, R.N
Fertility and Sterility, ISSN 0015-0282, 2012, Volume 97, Issue 3, pp. 686 - 690
Objective To understand the efficacy of vaginal dilators in the management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Design Retrospective sequential... 
Internal Medicine | Obstetrics and Gynecology | MRKH syndrome | neovagina | vaginal dilators | APLASIA | INTESTINAL VAGINOPLASTY | MRKH | RECONSTRUCTION | LAPAROSCOPIC CREATION | CHILDREN | OBSTETRICS & GYNECOLOGY | REPRODUCTIVE BIOLOGY | MULLERIAN AGENESIS | CONSTRUCTION | EXPERIENCE | Humans | Middle Aged | Vagina - abnormalities | Patient Care Team | Recovery of Function | Patient Satisfaction | Spine - abnormalities | Young Adult | Congenital Abnormalities | Time Factors | Uterus - physiopathology | Adult | Female | Surveys and Questionnaires | Retrospective Studies | Sexual Behavior | Dilatation - adverse effects | Uterus - abnormalities | Treatment Outcome | Vagina - physiopathology | 46, XX Disorders of Sex Development - therapy | Abnormalities, Multiple - physiopathology | Mullerian Ducts - abnormalities | Abnormalities, Multiple - therapy | Dilatation - instrumentation | Kidney - abnormalities | Adolescent | Somites - abnormalities | London | 46, XX Disorders of Sex Development - physiopathology
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8. Full Text Long-Term Outcomes After Percutaneous Coronary Intervention for Chronic Total Occlusion (from the CREDO-Kyoto Registry Cohort-2)
by Yamamoto, Erika, MD and Natsuaki, Masahiro, MD and Morimoto, Takeshi, MD and Furukawa, Yutaka, MD and Nakagawa, Yoshihisa, MD and Ono, Koh, MD and Mitsudo, Kazuaki, MD and Nobuyoshi, Masakiyo, MD and Doi, Osamu, MD and Tamura, Takashi, MD and Tanaka, Masaru, MD and Kimura, Takeshi, MD and CREDO-Kyoto PCI CABG Registry Coho and CREDO-Kyoto PCI/CABG Registry Cohort-2 Investigators
American Journal of Cardiology, The, ISSN 0002-9149, 2013, Volume 112, Issue 6, pp. 767 - 774
Despite improving success rate of percutaneous coronary intervention (PCI) for chronic total occlusion (CTO) lesions, the clinical benefit of recanalization of... 
Cardiovascular | IN-HOSPITAL OUTCOMES | SURVIVAL | TRIAL | MULTIVESSEL DISEASE | REVASCULARIZATION | MULTICENTER | IMPACT | CARDIAC & CARDIOVASCULAR SYSTEMS | METAANALYSIS | SUCCESSFUL RECANALIZATION | DRUG-ELUTING STENTS | Japan - epidemiology | Myocardial Infarction - epidemiology | Prognosis | Follow-Up Studies | Humans | Vagina - abnormalities | Male | Coronary Occlusion - diagnosis | Incidence | Spine - abnormalities | Congenital Abnormalities | Time Factors | Female | Registries | Coronary Occlusion - surgery | Myocardial Infarction - etiology | 46, XX Disorders of Sex Development | Survival Rate - trends | Risk Assessment | Risk Factors | Kaplan-Meier Estimate | Abnormalities, Multiple | Uterus - abnormalities | Treatment Outcome | Coronary Angiography | Mullerian Ducts - abnormalities | Coronary Occlusion - mortality | Kidney - abnormalities | Somites - abnormalities | Cause of Death - trends | Aged | Percutaneous Coronary Intervention | Transluminal angioplasty | Cardiovascular disease | Hospitalization | Heart attacks | Cardiology | Stents
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9. Full Text Vaginal malformations: a proposed classification based on embryological, anatomical and clinical criteria and their surgical management (an analysis of 167 cases)
by Ruggeri, Giovanni and Gargano, Tommaso and Antonellini, Claudio and Carlini, Veronica and Randi, Beatrice and Destro, Francesca and Lima, Mario
Pediatric Surgery International, ISSN 0179-0358, 8/2012, Volume 28, Issue 8, pp. 797 - 803
Although it is virtually impossible to formulate a scheme that can satisfactorily collect all different types of vaginal malformations, a simple classification... 
Pediatrics | Medicine & Public Health | Surgical treatment | Surgery | Vaginal malformations | New classification | Pediatric Surgery | SURGERY | UROGENITAL SINUS | TRANSANORECTAL APPROACH | FEMALE GENITAL-TRACT | ANOMALIES | UTERUS | PEDIATRICS | Kidney - surgery | Somites - surgery | 46, XX Disorders of Sex Development | Vagina - surgery | Humans | Mullerian Ducts - surgery | Vagina - abnormalities | Uterus - abnormalities | Gynecologic Surgical Procedures | Uterus - surgery | Urogenital Abnormalities - classification | Abnormalities, Multiple - surgery | Spine - abnormalities | Congenital Abnormalities | Mullerian Ducts - abnormalities | Urogenital Abnormalities - pathology | Kidney - abnormalities | Urogenital Abnormalities - surgery | Somites - abnormalities | Female | Abnormalities, Multiple - classification | Spine - surgery | Vagina - pathology
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10. Full Text Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)
by Philibert, Pascal, Pharm.D., Ph.D and Biason-Lauber, Anna, M.D., Ph.D and Gueorguieva, Iva, M.D and Stuckens, Chantal, M.D and Pienkowski, Catherine, M.D., Ph.D and Lebon-Labich, Béatrice, M.D and Paris, Françoise, M.D., Ph.D and Sultan, Charles, M.D., Ph.D
Fertility and Sterility, ISSN 0015-0282, 2011, Volume 95, Issue 8, pp. 2683 - 2686
In a collaborative study, we investigated four 46,XX adolescent girls with Mayer-Rokitansky-Küster-Hauser syndrome and hyperandrogenism. Molecular analysis of... 
Internal Medicine | Obstetrics and Gynecology | steroidogenic enzymes regulation | atypical Mayer-Rokintansky-Küster-Hauser syndrome | hyperandrogenism | Wnt4 | mullerian aplasia | REPRODUCTIVE BIOLOGY | MUTATION | CATENIN | atypical Mayer-Rokintansky-Kuster-Hauser syndrome | OBSTETRICS & GYNECOLOGY | Abnormalities, Multiple - metabolism | Dehydroepiandrosterone - biosynthesis | Progesterone Reductase - metabolism | Humans | Uterus - metabolism | Vagina - abnormalities | RNA, Messenger - metabolism | Wnt Proteins - metabolism | Spine - abnormalities | Young Adult | 17-alpha-Hydroxyprogesterone - metabolism | Congenital Abnormalities | Transfection | Wnt Proteins - genetics | DNA Mutational Analysis | Female | Hyperandrogenism - metabolism | Mullerian Ducts - metabolism | Abnormalities, Multiple - genetics | Ovary - metabolism | Genetic Predisposition to Disease | 46, XX Disorders of Sex Development - genetics | Hyperandrogenism - genetics | Uterus - abnormalities | Progesterone Reductase - genetics | beta Catenin - metabolism | Mullerian Ducts - abnormalities | Phenotype | Kidney - abnormalities | Adolescent | Somites - abnormalities | Cell Line, Tumor | Heterozygote | Steroid 17-alpha-Hydroxylase - genetics | Vagina - metabolism | Steroid 17-alpha-Hydroxylase - metabolism | 46, XX Disorders of Sex Development - metabolism | Mutation | Androstenedione - biosynthesis | Wnt4 Protein | Physiological aspects | Genetic research | Teenage girls | Analysis | Cytochrome P-450 | Genes | Ovarian cancer
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11. Full Text Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women
by Chang, Xinyue and Qin, Yingying and Xu, Chengyan and Li, Guangyu and Zhao, Xiaoming and Chen, Zi-Jiang
Reproductive BioMedicine Online, ISSN 1472-6483, 2012, Volume 24, Issue 6, pp. 630 - 633
Abstract The WNT4 gene plays a crucial role in sexual differentiation and female genital tract development. This study screened WNT4 for mutation in 189... 
Obstetrics and Gynecology | mutation | SNP | MRKH syndrome | Müllerian duct abnormalities | WNT4 | Mullerian duct abnormalities | UTERUS | CONGENITAL ABSENCE | OBSTETRICS & GYNECOLOGY | EXCLUSION | REPRODUCTIVE BIOLOGY | GENES | EXPRESSION | CARCINOMA | Gene Frequency - genetics | Genetic Testing | Humans | Asian Continental Ancestry Group - genetics | Vagina - abnormalities | Abnormalities, Multiple - ethnology | Infertility, Female - genetics | Case-Control Studies | Wnt4 Protein - genetics | Spine - abnormalities | Congenital Abnormalities | China | Female | Infertility, Female - ethnology | Retrospective Studies | Abnormalities, Multiple - genetics | Genetic Predisposition to Disease - genetics | 46, XX Disorders of Sex Development - genetics | Uterus - abnormalities | Exons - genetics | Genotype | 46, XX Disorders of Sex Development - ethnology | Mutation - genetics | Mullerian Ducts - abnormalities | Kidney - abnormalities | Somites - abnormalities | Polymorphism, Single Nucleotide - genetics | Genetic Predisposition to Disease - ethnology
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12. Full Text Sexuality after sigmoid vaginoplasty in patients with Mayer-Rokitansky-Küster-Hauser syndrome
by Carrard, Caroline, M.D and Chevret-Measson, Marie, M.D and Lunel, Aude, M.D and Raudrant, Daniel, M.D
Fertility and Sterility, ISSN 0015-0282, 2012, Volume 97, Issue 3, pp. 691 - 696
Objective To investigate the functional and sexual outcome of sigmoid vaginoplasty in patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Design... 
Internal Medicine | Obstetrics and Gynecology | Rokitansky syndrome | vaginal agenesis | sexuality | MRKH | Sigmoid vaginoplasty | DISTRESS | COLPOPOIESIS | VALIDATION | INDEX FSFI | OBSTETRICS & GYNECOLOGY | WOMEN | REPRODUCTIVE BIOLOGY | NEOVAGINA | CREATION | SCALE | Vagina - surgery | Gynecologic Surgical Procedures - adverse effects | Humans | Vagina - abnormalities | Adoption - psychology | Recovery of Function | Abnormalities, Multiple - surgery | Patient Satisfaction | Depression - etiology | Spine - abnormalities | Young Adult | Congenital Abnormalities | Surrogate Mothers - psychology | Uterus - physiopathology | Female | Surveys and Questionnaires | France | Surgically-Created Structures - adverse effects | Insemination, Artificial, Heterologous - psychology | Hospitals, University | Body Image | Uterus - abnormalities | Treatment Outcome | Abnormalities, Multiple - psychology | Uterus - surgery | Vagina - physiopathology | Chi-Square Distribution | 46, XX Disorders of Sex Development - psychology | Abnormalities, Multiple - physiopathology | 46, XX Disorders of Sex Development - surgery | Mullerian Ducts - abnormalities | Kidney - abnormalities | Sexuality | Somites - abnormalities | Perception | 46, XX Disorders of Sex Development - physiopathology
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13. Full Text The presentation and management of complex female genital malformations
by Acién, Pedro and Acién, Maribel
Human Reproduction Update, ISSN 1355-4786, 2016, Volume 22, Issue 1, pp. 48 - 69
BACKGROUND: Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Mullerian malformations... 
Unilateral renal agenesis | Vaginal atresia | Classification | Cervicovaginal agenesis | Cloacal anomalies | Management | Obstructive anomalies | Urogenital sinus | Complex malformations | Female genital tract anomalies | CONGENITAL UTERINE ANOMALIES | INTESTINAL SUBMUCOSA GRAFT | female genital tract anomalies | COMPLETE SEPTATE UTERUS | complex malformations | classification | cloacal anomalies | ANDROGEN INSENSITIVITY SYNDROME | unilateral renal agenesis | cervicovaginal agenesis | VAGINAL AGENESIS | OBSTETRICS & GYNECOLOGY | IPSILATERAL RENAL AGENESIS | WERNER-WUNDERLICH SYNDROME | ASSISTED UTEROVAGINAL ANASTOMOSIS | REPRODUCTIVE BIOLOGY | vaginal atresia | management | KUSTER-HAUSER-SYNDROME | obstructive anomalies | urogenital sinus | TERM-FOLLOW-UP | Urogenital Abnormalities - diagnosis | Kidney Diseases - congenital | Humans | Kidney Diseases - diagnosis | Vagina - abnormalities | Uterus - abnormalities | Genitalia, Female - embryology | Unnecessary Procedures | Congenital Abnormalities - diagnosis | Reproduction | Kidney - abnormalities | Kidney Diseases - therapy | Quality of Life | Female | Genitalia, Female - abnormalities | Early Diagnosis | Urogenital Abnormalities - therapy | Congenital Abnormalities - therapy
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14. Full Text Uterine rudiments in patients with Mayer-Rokitansky-Küster-Hauser syndrome consist of typical uterine tissue types with predominantly basalis-like endometrium
by Rall, Katharina, M.D and Barresi, Gianmaria and Wallwiener, Diethelm, M.D and Brucker, Sara Y., M.D and Staebler, Annette, M.D
Fertility and Sterility, ISSN 0015-0282, 2013, Volume 99, Issue 5, pp. 1392 - 1399
Objective To analyze the histologic and immunohistochemical structure of uterine rudiments focusing on the endometrium in a representative group of patients... 
Internal Medicine | Obstetrics and Gynecology | Uterovaginal aplasia |