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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK, Petersen MB, Brännström M. Herlin MK, et al. Orphanet J Rare Dis. 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. Orphanet J Rare Dis. 2020. PMID: 32819397 Free PMC article. Review.
BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, also referred to as Mullerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female k …
BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, also referred to as Mullerian aplasia, is a congenital disorder ch …
Mayer-Rokitansky-Kuster-Hauser syndrome as an interdisciplinary problem.
Liszewska-Kapłon M, Strózik M, Kotarski Ł, Bagłaj M, Hirnle L. Liszewska-Kapłon M, et al. Adv Clin Exp Med. 2020 Apr;29(4):505-511. doi: 10.17219/acem/118850. Adv Clin Exp Med. 2020. PMID: 32348039 Free article. Review.
The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, also known as Mullerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000-5,000 female live births. We can distinguish 2 type …
The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, also known as Mullerian agenesis or aplasia, is a congenital disease manifested by the a …
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M. Fontana L, et al. Clin Genet. 2017 Feb;91(2):233-246. doi: 10.1111/cge.12883. Epub 2016 Nov 16. Clin Genet. 2017. PMID: 27716927 Review.
It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500-5,000 newborn females and it is generally divided into two subtypes: MRKH …
It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX f …
GREB1L as a candidate gene of Mayer-Rokitansky-Kuster-Hauser Syndrome.
Kyei Barffour I, Kyei Baah Kwarkoh R. Kyei Barffour I, et al. Eur J Med Genet. 2021 Mar;64(3):104158. doi: 10.1016/j.ejmg.2021.104158. Epub 2021 Feb 4. Eur J Med Genet. 2021. PMID: 33548512 Review.
The growth regulation by estrogen in breast cancer 1-like gene (GREB1L) is an androgen-regulated gene reported to be a co-activator of the retinoic acid receptor gene (RAR). ...Here, we intorigate evidence that projects GREB1L as a candidate gene of Mayer-Rokitan
The growth regulation by estrogen in breast cancer 1-like gene (GREB1L) is an androgen-regulated gene reported to be a co-activator o …
Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.
Rall K, Eisenbeis S, Henninger V, Henes M, Wallwiener D, Bonin M, Brucker S. Rall K, et al. J Pediatr Adolesc Gynecol. 2015 Oct;28(5):362-8. doi: 10.1016/j.jpag.2014.07.019. Epub 2014 Nov 11. J Pediatr Adolesc Gynecol. 2015. PMID: 26148785 Review.
RESULTS: Among our cohort of 346 patients, we found that 53.2% had MRKH type 1, 41.3% had MRKH type 2, and 5.5% had MURCS syndrome. The group with associated malformations included 57.6% renal, 44.4% skeletal, and 30.8% other malformations. Additionally, we f …
RESULTS: Among our cohort of 346 patients, we found that 53.2% had MRKH type 1, 41.3% had MRKH type 2, and 5.5% had MUR …
[Atipical form of Mayer-Rokitansky-Kuster-Hauser syndrome with renal malformation and skeletal abnormalities (MURCS association)].
Borges Mde A, Pires ML, Monteiro DL, Santos SR. Borges Mde A, et al. Rev Bras Ginecol Obstet. 2012 Mar;34(3):133-8. doi: 10.1590/s0100-72032012000300008. Rev Bras Ginecol Obstet. 2012. PMID: 22488498 Review. Portuguese.
The atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Mullerian ducts (MU), congenital renal dysplasia (R) and cerv …
The atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type I …
Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.
Kapczuk K, Kędzia W. Kapczuk K, et al. Int J Mol Sci. 2021 Oct 25;22(21):11495. doi: 10.3390/ijms222111495. Int J Mol Sci. 2021. PMID: 34768925 Free PMC article. Review.
Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Mullerian aplasia, also known as Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely …
Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Mullerian aplasia, also kno …
The genetic basis of female reproductive disorders: etiology and clinical testing.
Layman LC. Layman LC. Mol Cell Endocrinol. 2013 May 6;370(1-2):138-48. doi: 10.1016/j.mce.2013.02.016. Epub 2013 Mar 14. Mol Cell Endocrinol. 2013. PMID: 23499866 Free PMC article. Review.
In eugonadal disorders, activating FSHR mutations have been identified for spontaneous ovarian hyperstimulation syndrome; and WNT4 mutations have been described in mullerian aplasia. For other eugonadal disorders, such as endometriosis, polycystic ovary syndrome, an …
In eugonadal disorders, activating FSHR mutations have been identified for spontaneous ovarian hyperstimulation syndrome; and WNT4 mutations …