Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.426
Abstract: Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) is the second most common cause of primary amenorrhea and characterized by absence of the uterus and the upper part of the vagina. The etiology of MRKH is mainly unknown but a… read more here.
Keywords: ster hauser; search altered; altered imprinting; imprinting marks ... See more keywords
Vaginal vault prolapse in a patient with Mayer–Rokitansky–Küster–Hauser syndrome: a video case presentation
Sign Up to like & getrecommendations! Published in 2017 at "International Urogynecology Journal"
DOI: 10.1007/s00192-017-3325-4
Abstract: Introduction and hypothesisSeveral reports have described vaginal prolapse in Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients after creation of a neovagina. To our knowledge, no reports of primary vaginal prolapse of a blind pouch without previous intervention, or… read more here.
Keywords: prolapse; ster hauser; mayer rokitansky; rokitansky ster ... See more keywords
Syndrome de Mayer–Rokitansky et agénésie rénale : à propos d’un cas
Sign Up to like & getrecommendations! Published in 2018 at "Annales d'Endocrinologie"
DOI: 10.1016/j.ando.2018.06.801
Abstract: Introduction Le syndrome de Mayer–Rokitansky–Kuster–Hauser (MRKH) est un syndrome rare mais necessitant une prise en charge globale. Nous rapportant le cas de notre patiente ayant beneficie d’une approche diagnostique et d’une prise en charge multidisciplinaire.… read more here.
Keywords: syndrome mayer; rokitansky; mayer rokitansky; syndrome ... See more keywords
Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103812
Abstract: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified… read more here.
Keywords: pax8; 2q12 1q14; hauser syndrome; mayer rokitansky ... See more keywords
Laparoscopic Creation of a Neovagina in Mayer-Rokitansky-Küster-Hauser Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Minimally Invasive Gynecology"
DOI: 10.1016/j.jmig.2019.09.741
Abstract: Video Objective To show the step by step procedure of a neovagina creation in Mayer-Rokitansky-Kuster-Hauser Syndrome. Setting 22-year-old patient with primary amenorrhea, normal feminine phenotype development and vaginal agenesis on clinical examination. Pelvic ultrasound noted… read more here.
Keywords: laparoscopic; hauser syndrome; mayer rokitansky; creation ... See more keywords
Repair of iatrogenic urethral and bladder neck injury due to missed diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Urology"
DOI: 10.1016/j.urology.2019.09.017
Abstract: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital malformation disorder resulting in agenesis of the proximal vagina, absence of cervix, and variable development of the uterus. This report describes the repair of a complex iatrogenic urethrovaginal injury due… read more here.
Keywords: ster hauser; rokitansky ster; due missed; mayer rokitansky ... See more keywords
Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Human Genome Variation"
DOI: 10.1038/s41439-018-0028-4
Abstract: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence of the vagina and uterus. We conducted genome-wide SNP analyses and exome sequencing to detect the causes of MRKH syndrome. We identified de novo variants of MYCBP2,… read more here.
Keywords: ster hauser; variation; mayer rokitansky; rokitansky ster ... See more keywords
Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12883
Abstract: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina… read more here.
Keywords: mrkh syndrome; genetics; mayer rokitansky; rokitansky ster ... See more keywords
Comparison of the modified laparoscopic Vecchietti and Davydov colpoplasty techniques in Mayer‐Rokitansky‐Küster‐Hauser syndrome: A long‐term follow‐up analysis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Obstetrics and Gynaecology Research"
DOI: 10.1111/jog.15262
Abstract: To introduce and compare the modified laparoscopic Vecchietti and Davydov techniques for vaginoplasty in patients with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome. Moreover, the long‐term treatment of vaginal agenesis was followed‐up. read more here.
Keywords: laparoscopic vecchietti; modified laparoscopic; vecchietti davydov; rokitansky ster ... See more keywords
Multiorgan system structural malformations associated with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) type 2: avoiding pitfalls in diagnosis, counseling and treatment
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-225977
Abstract: An 18-year-old virginal woman was referred to the reproductive endocrinology clinic with primary amenorrhoea and secondary sexual development in the absence of pelvic pain. Additionally, she had significant congenital sensorineural hearing loss, autism, bipolar disorder… read more here.
Keywords: ster hauser; diagnosis; rokitansky ster; hauser syndrome ... See more keywords
Vaginal bleeding in a misdiagnosed Mayer-Rokitansky-Küster-Hauser syndrome
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2020-241387
Abstract: The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a spectrum of anomalies arising from incomplete development of the Müllerian ducts, is characterised by congenital aplasia of the uterus and upper part of the vagina, often in the absence of… read more here.
Keywords: ster hauser; vaginal bleeding; mayer rokitansky; rokitansky ster ... See more keywords