Results 71 to 80 of about 3,493 (177)

Diagnostic Challenges in Choroid Plexus Tumours

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
In this review, we summarise the diagnostic spectrum of choroid plexus tumours, highlight key age‐dependent differential diagnoses across infants, children/adolescents and adults, and outline how histopathology, immunohistochemistry and molecular profiling support accurate tumour classification.
Christian Thomas, Martin Hasselblatt
wiley   +1 more source

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China

The Application of Clinical Genetics
Lulu Meng,1,* Yan Wang,1,* Junqiang Zhang,2,* Ran Zhou,1 Xingxing Wang,3 Fengchang Qiao,1 Qinxin Zhang,1 Cheng Wan,3 Shujing Jiao,3 Ping Hu,1 Zhengfeng Xu11Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical ...
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z   +10 more
doaj  

A rare case of Turner′s syndrome presenting with Mullerian agenesis

Journal of Human Reproductive Sciences, 2013
Turner′s syndrome also called as Ullrich Turner′s syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature.
Suresh Vaddadi, Ramana S. V. Murthy, C H Rahul, Vinod L Kumar   +3 more
doaj   +1 more source

Why could a woman have three Trisomy 21 pregnancies? – a case report

Clinical Case Reports, 2017
Key Clinical Message Mosaicism, an important cause for recurrent T21, should be suspected in families with more than one affected child wishing to receive prenatal counseling.
Magda Magalhães, Cecília Marques, Fabiana Ramos, Ana Jardim, Sofia Franco, Filomena Coelho, Isabel Carreira, Paulo Moura   +7 more
doaj   +1 more source

Correction to: Gonadal mosaicism mediated female-biased gender control in mice. [PDF]

Protein Cell, 2022
Bai M, Liang D, Cheng Y, Liu G, Wang Q, Li J, Wu Y.   +6 more
europepmc   +1 more source

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN ...
Rafael Fabiano Machado Rosa, Willy Francisco Bartel D'Ecclesiis, Raquel Papandreus Dibbi, Rosana Cardoso Manique Rosa, Patrícia Trevisan, Carla Graziadio, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen   +7 more
doaj   +1 more source

Gonadal and gonadosomatic mosaicism in NF1: report of two families

JDDG: Journal der Deutschen Dermatologischen Gesellschaft
sponsorship: We wish to thank the Austrian lay association NF Kinder () for their continuous support of patients and their families with neurofibromatosis and of our work. (Austrian lay association NF Kinder)
Seidl-Philipp, Magdalena, Veyt, Nathalie, Schnaiter, Simon, Krogsdam, Anne, Schwendinger, Simon, Maertens, Ophelia, Fauth, Christine, Schmuth, Matthias, Legius, Eric, Wimmer, Katharina, Brems, Hilde   +10 more
openaire   +3 more sources

Gonadal mosaicism mediated female-biased gender control in mice. [PDF]

Protein Cell, 2022
Bai M, Liang D, Cheng Y, Liu G, Wang Q, Li J, Wu Y.   +6 more
europepmc   +1 more source

Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report

Frontiers in Bioscience-Scholar
Background: The 47,XYY syndrome is a genetic condition found in about 1 in 1000 male children. The expected phenotype is male but could vary greatly.
Marcelo Jones Pires, Laura Coimbra Teixeira, Luise Longo Angeloni, Julia Londero Heleno, Mariana Romano, Marcio Lopes Miranda, Tarsis Paiva Vieira, Mara Sanches Guaragna, Beatriz Amstaldem Barros, Andréa Trevas Maciel-Guerra, Gil Guerra-Junior   +10 more
doaj   +1 more source

Genetic Etiologies of an Epilepsy Outpatient Clinic: Single-center Experience

Archives of Epilepsy
Objective: We aim to documented genetic etiology of epilepsy at a single-center epilepsy outpatient clinic in state hospital. Methods: The patients’ demographic data, clinical and electrophysiologic features, and gene analysis were re-evaluated from ...
Dilara Mermi Dibek, Alper Gezdirici, Bülent Uyanık, Leyli Şentürk, İbrahim Öztura, Barış Baklan, Sultan Cingöz   +6 more
doaj   +1 more source