Results 41 to 50 of about 647,943 (150)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Determining the timeline of gonadal and genital differentiation in male and female equine fetuses allows for early detection and intervention in malformations

The Anatomical Record, EarlyView.
Abstract Sexual differentiation in the equine fetus involves coordinated morphogenetic processes that shape both the gonads and the genital ducts. Although the formation of testes and ovaries has been relatively well documented, the temporal dynamics and morphometric patterns of the mesonephric (Wolffian) and paramesonephric (Müllerian) ducts remain ...
Tais Harumi de Castro Sasahara, Silvio Pires Gomes, Fabio Cesar Magioli Abdala, Bruno Cesar Schimming, Maria Angelica Miglino   +4 more
wiley   +1 more source

Intra-Abdominal Germ Cell Tumor in Persistent Mullerian Duct Syndrome [PDF]

, 2016
A 46-year-old man was admitted to hospital presenting with a lower abdominal mass. The patient’s testes were not palpable in the scrotum, and the levels of lactic dehydrogenase, α-fetoprotein and human chorionic gonadotropin were all elevated.
三島, 崇生, 河, 源, 桜井, 孝規, 原田, 二郎, 岡田, 卓也   +4 more
core   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia [PDF]

, 2016
Persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism characterized by the presence of Mullerian duct structures in a normal male with 46, XY karyotype.
Kumar, P. Naresh, Venugopala, Kandgal
core  

Persistent Mullerian Duct Syndrome in Adult Men Diagnosed Using Laparoscopy

, 2011
Persistent mullerian duct syndrome is a rare disease that occurs in men with a completely normal phenotype and is characterized by the presence of mullerian duct structures.
Adil Ahmet Esen, Omer Demir, Volkan Sen, Sen, VOLKAN, Esen, AHMET ADİL, Onur Kizer, Kizer, Onur, Demir, Omer   +7 more
core   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Lactation, Childrearing, and Gender Justice

Journal of Applied Philosophy, EarlyView.
ABSTRACT In this article, I discuss the significance of early infant feeding choices for the goal of gender justice. Focusing on human lactation practices, I identify Exclusive Gestational Nursing (EGN) as the norm in advanced industrial societies, which creates the expectation and permission for gestators, and only gestators, to nurse children, and ...
Jenny Brown
wiley   +1 more source

Persistent Mullerian Duct Syndrome Presenting in an Incarcerated Recurrent Inguinal Hernia with Hydrocele

Urology Case Reports, 2017
Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair.
Lauren Pulido, Gosta Iwasiuk, Michael Sparkuhl, Dang Bui, Haley Springs   +4 more
doaj   +1 more source

A Uterus‐Preserving Laparoscopic Technique for Cervicovaginal Agenesis With Functional Uterine Remnants

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Cervicovaginal agenesis with functional uterine remnants is a rare Müllerian anomaly that may cause obstructed menstrual flow, pelvic pain, haematometra, haematosalpinx and endometriosis. Uterus‐preserving reconstruction is challenging because it requires both neovaginal creation and durable uterine drainage.
Kiper Aslan, Isil Kasapoglu, Bahadir Kosan, Gürkan Uncu   +3 more
wiley   +1 more source