Results 51 to 60 of about 488,885 (143)

Huge abdominal mass secondary to a transverse vaginal septum and cervical dysgenesis [PDF]

, 2012
Transverse vaginal septum is a rare occurrence. When it co-exists with cervical dysgenesis, it is even rarer. Primary amenorrhea with cyclic pain is one manifesta-tion in post-pubertal women.
Djokoto, R, Opoku, BK, Owusu-Bempah, A, Amo-Antwi, K   +3 more
core   +1 more source

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 more
wiley   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Transverse vaginal septum : Report of two patients with MRI findings. [PDF]

, 2017
The transverse vaginal septum is a rare form of Mullerian duct anomaly, and is a disorder of vertical fusion of Mullerian system with the sinovaginal bulb.
Afzal, Shaista, Bhurgri, Shazia, Masroor, Imrana, Naz, Saira, Saeed, Shaista Afzal   +4 more
core  

Treatment of Virgin OHVIRA Syndrome with Haematometrocolpos by Complete Incision of Vaginal Septum without Hymenotomy [PDF]

Journal of Clinical and Diagnostic Research, 2015
Mullerian malformations result from defective fusion of the Mullerian ducts during development of the female reproductive system and have an incidence of 2-3%.
Niyazi Tug, Mehmet Akif Sargin, Ayhan Çelik, Turgut Alp, Ilter Yenidede   +4 more
doaj   +1 more source

Paraurethral Endometrioid Carcinoma Arising From Ectopic Endometriosis: A Case Report

IJU Case Reports, Volume 9, Issue 6, November 2026.
ABSTRACT Introduction Malignant transformation of endometriosis is rare and most commonly involves the ovary; transformation from paraurethral endometriosis is exceedingly rare. Case Presentation A 73‐year‐old postmenopausal woman with prior ovarian endometrioma presented with dysuria and voiding difficulty.
Keita Ogasawara, Takashi Tsuyukubo, Mizuki Hisano, Hiromitsu Fujisawa, Shigekatsu Maekawa, Mitsugu Kanehira, Mitsumasa Osakabe, Naoki Yanagawa, Hiroaki Itamochi, Wataru Obara   +9 more
wiley   +1 more source

Recurrent transverse vaginal septum presenting as lactational amenorrhea: a rare presentation of a rare anomaly [PDF]

Transverse vaginal septum is a rare congenital Mullerian duct developmental anomaly with varied presentations in different age groups. Depending on its location in vagina, it can be a high, middle or low transverse vaginal septum, thus causing ...
Guru, Sanjeev, Chandraul, Vandana, Kaur, Pancham Preet, Dankher, Supriya   +3 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Transverse vaginal septum in a young adolescent : a case report describing a novel approach in the initial surgical management [PDF]

, 2022
Transverse vaginal septum is a rare congenital anomaly. It is one of the variants of müllerian duct anomalies which results from defective fusion or recanalization of the vaginal and müllerian organs.
Mbambu, T., Snyman, Leon Cornelius
core   +1 more source