Results 111 to 120 of about 97,243 (292)
Non-random Mis-segregation of Human Chromosomes
Cell Reports, 2018 Summary: A common assumption is that human chromosomes carry equal chances of mis-segregation during compromised cell division. Human chromosomes vary in multiple parameters that might generate bias, but technological limitations have precluded a ...
Joseph Thomas Worrall +9 more
doaj +1 more source
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
core +2 more sources
The Journal of Pathology, EarlyView.Abstract Development of ipsilateral breast carcinoma following a diagnosis of breast ductal carcinoma in situ (DCIS) has been assumed to represent recurrence of the primary tumour. However, this may not always be the case, and it is important to determine how often such recurrences represent new tumours.
Tanjina Kader +32 more
wiley +1 more source
The Journal of Pathology, EarlyView.Abstract Approximately 10% of testicular Leydig cell tumors (LCTs) are clinically malignant and unresponsive to systemic treatment. Predicting their clinical behavior can be problematic because there are no biomarkers that can consistently discriminate between benign and malignant LCTs.
João Lobo +22 more
wiley +1 more source
Selection forces underlying aneuploidy patterns in cancer
Molecular & Cellular OncologyAneuploidy, the presence of an aberrant number of chromosomes, has been associated with tumorigenesis for over a century. More recently, advances in karyotyping techniques have revealed its high prevalence in cancer: About 90% of solid tumors and 50–70 ...
Tamara C. Klockner +1 more
doaj +1 more source
Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results [PDF]
, 2015 Matthew W. Snyder +8 more
openalex +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel +17 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To develop and evaluate an animation for parents about prenatal sequencing. Methods A total of 428 participants who had been pregnant, or whose partner had been pregnant, in the past 24 months. Parents, patient organisation representatives and clinicians co‐designed the animation describing prenatal sequencing (pS). Participants were
Morgan Daniel +12 more
wiley +1 more source
Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?
Prenatal Diagnosis, EarlyView.ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley +1 more source
A novel retinoblastoma therapy from genomic and epigenetic analyses. [PDF]
, 2012 Retinoblastoma is an aggressive childhood cancer of the developing retina that is initiated by the biallelic loss of RB1. Tumours progress very quickly following RB1 inactivation but the underlying mechanism is not known.
Bahrami, Armita +35 more
core