Results 61 to 70 of about 30,054 (246)

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

Abnormal development of urogenital organs in Dlgh1-deficient mice [PDF]

Development, 2007
Dlgh1 (discs large homolog 1) is a mammalian homolog of the Drosophila tumor suppressor Discs large 1, and is a member of the membrane-associated guanylate kinase (MAGUK) scaffolding proteins that contain three PSD-95/Dlg/ZO-1 (PDZ) domains. Discs large 1 is involved in epithelial polarization and cell-cell adhesion complex formation during Drosophila ...
Akiko, Iizuka-Kogo, Takefumi, Ishidao, Tetsu, Akiyama, Takao, Senda   +3 more
openaire   +2 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Assessment of quality of life based on psychological, somatovegetative, and urogenital health problems among postmenopausal women in Urban Puducherry, South India: A cross-sectional observational study

Journal of Mid-Life Health, 2018
Background: An average Indian woman spends almost one-third of her lifespan in the postmenopausal phase enduring the consequences of hormonal decline. This can have a significant impact on quality of life (QOL).
Yuvaraj Krishnamoorthy, Gokul Sarveswaran, Venkatachalam Jayaseelan, Manikandanesan Sakthivel, Yashodha Arivarasan, N Bharathnag   +5 more
doaj   +1 more source

Herlyn-Werner-Wunderlich syndrome with double hematocolpos in one side hemivagina

Clinical and Experimental Obstetrics & Gynecology, 2022
Background: Herlyn-Werner-Wunderlich syndrome (HWWS) is an extremely rare Mullerian anomaly consisting of uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis.
You Jin Kim, Jung Bo Yang, Ye Won Jung, Soo Youn Song, Geon Woo Lee, Heon Jong Yoo   +5 more
doaj   +1 more source

Diagnosis and ultrasound-guided retrieval of a vaginal foreign body in a dog and a cat [PDF]

, 2014
In this case report, the diagnosis and ultrasound-guided retrieval of an intravaginal grass awn in a dog and a cat are described. The dog was presented with chronic vaginal discharge for over two years. The cat was presented for acute lethargy and bloody
De Pauw, B, Gatel, Laure, Gory, G, Rault, DN   +3 more
core  

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Diphallia as the first sign of a polymalformative syndrome

Journal of Pediatric and Neonatal Individualized Medicine, 2023
Diphallia or penile duplication is a rare anomaly, with an estimated prevalence of 1 in every 5.5 million live births. It may present alone or associated with other penile or abdominal malformations, such as renal and anorectal anomalies.
Cláudia Correia, Mario Rui Correia, Rute Vaz, João Ribeiro-Castro, Sara Peixoto   +4 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source