Results 71 to 80 of about 1,400,939 (196)

Mayer-Rokitansky-Kuster-Hauser syndrome with gonadohypoplasia:a rare case report [PDF]

, 2017
MRKH (Mayer Rokitansky Kuster Hauser) syndrome is a congenital abnormality seen in one out of 5,000 women characterized by the agenesis of the vagina, cervix, and uterus. It is also associated with kidney, bone and hearing difficulties.
Vidyadhara, S., Rakesh, Y., Ramineni, Hari Babu, M., Chandini, Babu, K. Narendra   +4 more
core   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Mayer-Rokitansky-Kuster-Hauser Type I Syndrome - A Case Report [PDF]

, 2017
Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is not uncommon as this is a part of the Mullerian agenesis. This isusually diagnosed during adolescent period when signs and symptoms of the ongoing changes in female body type are delayed.We present 17 ...
Y, Singh, S, Sharma, BB, Sharma, J, Balesa   +3 more
core  

Syndrome de Mayer-Rokitansky-Küster-Hauser

PAMJ Clinical Medicine, 2019
Le syndrome de Mayer-Rokitansky-Küster-Hauser est une malformation rare de la filière génitale chez la femme qui se définit par l’agénésie de l’utérus et du vagin mais avec des ovaires normaux.
Hassan Doulhousne, Zakaria Toufga, Abdelilah Mouhsine, Mehdi Atmane   +3 more
doaj   +1 more source

Detection of de novo genetic variants in Mayer–Rokitansky–Küster–Hauser syndrome by whole genome sequencing

European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2019
Objective: The aim of this study was to use whole genome sequencing (WGS) help detect de novo mutations or pathogenic genes of Mayer-Rokitansky-Küster-Hauser syndrome type 1(MRKH syndrome type 1). Study design: This was a case-parent trios study.
Hong-xin Pan, Guang-nan Luo, Sheng-qing Wan, Cheng-lu Qin, Jie Tang, Meng Zhang, Min Du, Ke-ke Xu, Jin-qiu Shi   +8 more
doaj   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, Volume 109, Issue 4, Page 615-629, April 2026.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Pathogenesis of Adenomyosis: An Integrated Review of Cellular Origins, Molecular Mechanisms, and Intersecting Diseases

Journal of Cellular and Molecular Medicine, Volume 30, Issue 7, April 2026.
ABSTRACT Adenomyosis is a prevalent disorder of the archimetra, historically conflated with endometriosis but possessing a unique pathobiological trajectory. This review synthesises current molecular evidence to propose a unified mechanistic framework initiated by tissue injury and repair (TIAR), aberrant stem cell activation, or de novo metaplasia ...
Jiang Yang, Xiaochong Li, Yu Peng, Zhongfeng Sun, Lingli Zhang, Jie Duan, Nanbert Zhong   +6 more
wiley   +1 more source

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Orphanet Journal of Rare Diseases, 2007
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype.
Camborieux Laure, Morcel Karine, Guerrier Daniel   +2 more
doaj   +1 more source

Clinical case: Mayer-Rokitansky-Kuster-Hauser syndrome, atypic form [PDF]

, 2011
Secţia Urologie IMSP SCM „Sf. Treime”, Catedra Urologie şi Nefrologie Chirurgicală, USMF „N. Testemiţanu”, Al V-lea Congres de Urologie, Dializă şi Transplant Renal din Republica Moldova cu participare internaţională (1-13 iunie 2011)Summary.
Chiriţa, Lilia, Bejan, Sergiu, Pleşca, Eduard, Bobu, Victor, Guţu, Constantin, Caraion, Vladimir, Gaidău, M.   +6 more
core   +1 more source

Ionic–Bionic Interfaces: Advancing Iontronic Strategies for Bioelectronic Sensing and Therapy

Advanced Science, Volume 13, Issue 16, 18 March 2026.
Ionic–bionic interfaces for bioelectronics leverage ions as multifunctional mediators that combine mechanical compliance, ionic and electronic functionalities, and therapeutic effects. These systems offer real‐time biosignal transduction, effective wound dressing, responsive drug delivery, and seamless interaction between soft tissues and electronic ...
Yun Goo Ro, Yoojin Chang, Jeeyoon Kim, Seungjae Lee, Sangyun Na, Cheolhong Park, Hyunhyub Ko   +6 more
wiley   +1 more source