Results 91 to 100 of about 282,756 (243)

Malignant Germ Cell Tumors and Disorders of Sex Development [PDF]

, 2015
__Abstract__ The thesis focuses on selected disorders of sex development (DSD) with an increased risk of gonadal germ cell cancer (GCC) and aims to contribute to the refinement of management of the DSD at risk.
Kaprová-Pleskačová, J. (Jana)
core  

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 862-870, April 2026.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review

Frontiers in Pediatrics
Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone.
Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui   +8 more
doaj   +1 more source

Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis

BMC Medical Genomics, 2023
Objective This study is a retrospective analysis of the prenatal genetic diagnosis results of 1408 foetuses at high risk of DMD/BMD to provide information for clinical genetic counselling.
Chunxiao Hua, Lina Liu, Xiangdong Kong
doaj   +1 more source

Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity

Clinical Case Reports, Volume 14, Issue 4, April 2026.
Archibald's metacarpal sign is characterized by dimpling over the knuckles when the fist is clenched, resulting from relative shortening of the fourth and fifth metacarpals compared with the third. ABSTRACT Turner syndrome (TS) often presents with subtle or overlooked clinical signs, contributing to frequent diagnostic delays. We describe the case of a
Maria Chiara Pellegrin, Gianluca Tamaro, Alice Fachin, Egidio Barbi, Gianluca Tornese   +4 more
wiley   +1 more source

The transformer gene controls sexual development in Drosophila suzukii

Insect Science, Volume 33, Issue 2, Page 547-565, April 2026.
The transformer gene plays a key role in the genetic pathway for sexual development in Drosophila suzukii Abstract The genetic network of sex determination in the model organism Drosophila melanogaster was investigated in great detail. Such knowledge not only advances our understanding of the evolution and regulation of sexual dimorphism in insects ...
Ying Yan, Jing Zhao, Jonas Schwirz, Cristina Borghesi, Conghui Liu, Bo Liu, Wanqiang Qian, Fanghao Wan, Marc F. Schetelig   +8 more
wiley   +1 more source

From Decourt sex chromatin to real time PCR: cytogenetic and gene expression in the Turner syndrome study [PDF]

, 2010
Universidade Federal de São Paulo (UNIFESP) Departamento de MedicinaUNIFESP, Depto.
Bianco, Bianca Alves Vieira, Guedes, Alexis Dourado, Lipay, Monica V. N., Oliveira, Kelly Cristina de, Verreschi, Ieda Therezinha do Nascimento   +4 more
core   +1 more source

Homo sapiens, industrialisation and the environmental mismatch hypothesis

Biological Reviews, Volume 101, Issue 2, Page 580-601, April 2026.
ABSTRACT For the vast majority of the evolutionary history of Homo sapiens, a range of natural environments defined the parameters within which selection shaped human biology. Although human‐induced alterations to the terrestrial biosphere have been evident for over 10,000 years, the pace and scale of change has accelerated dramatically since the onset
Daniel P. Longman, Colin N. Shaw
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

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

The FEBS Journal, Volume 293, Issue 8, Page 2248-2269, April 2026.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata, Simona Candiani, Michela Tonetti   +11 more
wiley   +1 more source