Results 51 to 60 of about 3,493 (177)

Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita

Frontiers in Genetics
BackgroundDyskeratosis congenita (DC; OMIM: 127550) is a rare inherited bone marrow failure syndrome. TINF2 mutations are the second most common genetic cause of DC, and most cases arise from de novo mutations.
Tao Xie, Tao Xie, Hanying Nong, Hanying Nong, Jiali Jiang, Mengxin Yang, Jialiang Liao, Zhihao Lin, Yuping Li, Bobo Xie, Hongying Wei, Hongying Wei   +11 more
doaj   +1 more source

Preliminary study documents variable accuracy and inclusion among biology instructor gender/sex definitions

Natural Sciences Education, Volume 55, Issue 2, December 2026.
Abstract Society generally presents sex inaccurately as a binary variable based on one or few trait(s), causing myriad issues, including the pursuit of reductionist biology experiments, the creation of laws that limit the rights of women, people with queer genders, and intersex folks, and greater student endorsement of gender stereotypes in ...
Emily P. Driessen, Joel R. Schneider, Keenan Walker, Tess Hallman, A. Kelly Lane   +4 more
wiley   +1 more source

A successful in vitro fertilization outcome in a hermaphrodite male

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 424-425, April 2025.
Shima Elbakhit M. E. Albasha, Sami Saadi Al‐Said, Haitham Tharwat M. H. El Bardisi   +2 more
wiley   +1 more source

Unveiling the Functional Role of KIF21B in Microglia Inflammatory Response

Glia, Volume 74, Issue 9, September 2026.
Microglia express KIF21B in both sexes. KIF21B binds to microglia cytoskeleton; inflammation alters such interaction promoting a phagocytic state in females. In male microglia KIF21B modulates migration. ABSTRACT Microglia are brain immune cells that maintain homeostasis and respond to injury, changing cell morphology to drive inflammation, migration ...
Danny Ganchala, Alvaro Bautista‐Abad, Daniel Pinto‐Benito, Julia Simon‐Areces, Daniela Grassi, Francesco Paolo Ulloa Severino, Maria‐Angeles Arevalo   +6 more
wiley   +1 more source

Histiocytosis development and clinical variation through the lens of genomics

The Journal of Pathology, Volume 270, Issue 1, Page 23-39, September 2026.
Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Paul G Kemps, Astrid GS van Halteren, Tom van Wezel, Pancras CW Hogendoorn   +3 more
wiley   +1 more source

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation

Urology Annals, 2015
Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual.
Shyam M Talreja, Indraneel Banerjee, Sher Singh Yadav, Vinay Tomar   +3 more
doaj   +1 more source

Prenatal Genomics for Sonographers: Enhancing Confidence, Communication, and Clinical Care

Sonography, Volume 13, Issue 3, September 2026.
ABSTRACT Genomic medicine is advancing rapidly, bringing significant changes to prenatal care and expanding the role of health professionals. As clinicians responsible for performing prenatal ultrasounds which may detect fetal anomalies and ultimately lead to genetic diagnoses, sonographers should have an understanding of genomic concepts to support a ...
Deborah Wye, Laura Gerhardy, Noha Elserafy   +2 more
wiley   +1 more source

A Rare Case of Rudimentary Uterus With Absence of Both Ovaries and 46,XX Normal Karyotype Without Mosaicism

Taiwanese Journal of Obstetrics & Gynecology, 2008
Summary: Objective: We report an 18-year-old patient with bilateral ovarian agenesis, rudimentary uterus and normal fallopian tubes, and with normal 46,XX karyotype (without mosaicism).
Murat Dede, Kazim Gezginç, Mustafa Ulubay, Ibrahim Alanbay, Müfit Yenen   +4 more
doaj   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

Molecular Genetics & Genomic Medicine, 2019
Background 22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported.
Weicheng Chen, Xiaodi Li, Liqun Sun, Wei Sheng, Guoying Huang   +4 more
doaj   +1 more source