Wilms tumour
F Spreafico, CV Fernandez, J Brok, K Nakata… - Nature Reviews …, 2021 - nature.com
Wilms tumour (WT) is a childhood embryonal tumour that is paradigmatic of the intersection
between disrupted organogenesis and tumorigenesis. Many WT genes play a critical (non …
between disrupted organogenesis and tumorigenesis. Many WT genes play a critical (non …
Recent advances in integrated microfluidics for liquid biopsies and future directions
J Zhuang, L Xia, Z Zou, J Yin, N Lin, Y Mu - Biosensors and Bioelectronics, 2022 - Elsevier
Liquid biopsies have piqued the interest of researchers as a new tumor diagnosis technique
due to their unique benefits of non-invasiveness, sensitivity, and convenience. Recent …
due to their unique benefits of non-invasiveness, sensitivity, and convenience. Recent …
Overgrowth syndromes—evaluation, diagnosis, and management
J Manor, SR Lalani - Frontiers in Pediatrics, 2020 - frontiersin.org
Abnormally excessive growth results from perturbation of a complex interplay of genetic,
epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes …
epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes …
PI3K/mTOR pathway inhibition: opportunities in oncology and rare genetic diseases
P Hillmann, D Fabbro - International journal of molecular sciences, 2019 - mdpi.com
The phosphatidylinositol 3-kinase (PI3K)/mammalian target of rapamycin (mTOR) signaling
pathway has been implicated as a cancer target. Big pharma players and small companies …
pathway has been implicated as a cancer target. Big pharma players and small companies …
Diagnostic approach to macrocephaly in children
Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally
large head with an occipitofrontal circumference (OFC)> 2 standard deviations (SD) above …
large head with an occipitofrontal circumference (OFC)> 2 standard deviations (SD) above …
Imprinted long non-coding RNAs in mammalian development and disease
Imprinted genes play diverse roles in mammalian development, homeostasis, and disease.
Most imprinted chromosomal domains express one or more long non-coding RNAs …
Most imprinted chromosomal domains express one or more long non-coding RNAs …
Abnormal fetal growth: small for gestational age, fetal growth restriction, large for gestational age: definitions and epidemiology
SE Damhuis, W Ganzevoort… - … and Gynecology Clinics, 2021 - obgyn.theclinics.com
Background Appropriate placental supply of nutrients and oxygen is essential for fetal
growth and development, neonatal health, and lifelong well-being. Conversely, abnormal …
growth and development, neonatal health, and lifelong well-being. Conversely, abnormal …
Pediatric renal tumor epidemiology: Global perspectives, progress, and challenges
J Libes, J Hol, JCA Neto, KL Vallance… - Pediatric blood & …, 2023 - Wiley Online Library
Pediatric renal tumors account for 3%–11% of childhood cancers, the most common of
which is Wilms tumor or nephroblastoma. Epidemiology plays a key role in cancer …
which is Wilms tumor or nephroblastoma. Epidemiology plays a key role in cancer …
[HTML][HTML] Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal …
JA Hol, R Jewell, T Chowdhury, C Duncan… - European Journal of …, 2021 - Elsevier
Since previous consensus-based Wilms tumour (WT) surveillance guidelines were
published, novel genes and syndromes associated with WT risk have been identified, and …
published, novel genes and syndromes associated with WT risk have been identified, and …
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
R Truty, S Rojahn, K Ouyang, C Kautzer… - The American Journal of …, 2023 - cell.com
DNA variants that arise after conception can show mosaicism, varying in presence and
extent among tissues. Mosaic variants have been reported in Mendelian diseases, but …
extent among tissues. Mosaic variants have been reported in Mendelian diseases, but …