Results 61 to 70 of about 464,487 (319)

Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women

Hereditary Cancer in Clinical Practice
Background The genetic background of ductal carcinoma in situ (DCIS) has not been well explored. Previously, we reported that Polish founder mutations of BRCA1/2 confer susceptibility to DCIS.
Sylwia Feszak, Wojciech Kluźniak, Igor Feszak, Magdalena Chady, Dominika Wokołorczyk, Klaudia Stempa, Helena Rudnicka, Katarzyna Gliniewicz, Anna Jakubowska, Marcin Lener, Maciej Czepukowicz, Tomasz Huzarski, Tadeusz Dębniak, Jacek Gronwald, Jan Lubiński, Cezary Cybulski   +15 more
doaj   +1 more source

Serological Benefit of SARS‐CoV‐2 Vaccination Relative to Infection in Children With Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with acute lymphoblastic leukemia (ALL) are at risk of severe outcomes from SARS‐CoV‐2 (SCV2). In the post‐pandemic context, where most children have been infected with SCV2, there are limited data on whether vaccination remains beneficial in children with ALL.
Janna R. Shapiro, Freda Qi, Karen Colwill, Alina D. Dorogy, Ying Liu, Michelle Science, Anne‐Claude Gingras, James M. Rini, Sumit Gupta, Sarah Alexander, Shelly Bolotin, Tania H. Watts   +11 more
wiley   +1 more source

Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study

Egyptian Journal of Medical Human Genetics
Backgrounds Trisomy 21 is the most common chromosomal abnormality and is clinically characterized by variable intellectual disability, typical facial dysmorphism, polymalformative syndrome, and oral and dental abnormalities, which are ten times more ...
Yasmine Boukhalfa, Lilia Kraoua, Faouzi Maazoul, Jihène Zaroui, Ridha M’rad   +4 more
doaj   +1 more source

HEREDITARY OSTEPSATHYROSIS

Annals of Surgery, 1918
n ...
openaire   +3 more sources

Deep Sequencing of FLT3‐ITD Enables Response Evaluation and Post‐Treatment Monitoring in Childhood AML: An Exploratory Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm, Bea Tornberg, Erik Delsing Malmberg, Henrik Hasle, Kristian Løvvik Juul‐Dam, Lars Palmqvist, Borhan R. Saeed, Giti Shah Barkhordar, Anastasia Soboli, Anna Staffas, Jonas Abrahamsson, Linda Fogelstrand   +11 more
wiley   +1 more source

The Relations Between Behavioral Problems and Demographic Variables in Students With Visual Impairment [PDF]

Iranian Rehabilitation Journal, 2020
Objectives: The most distinctive group of people with sensory disabilities is those with visual impairment. This study aimed to evaluate the relationship between behavioral problems and demographic variables in students with visual impairment in the ...
Sara Ghorbaninejad, Firoozeh Sajedi, Masoumeh Pourmohamadreza Tajrishi, Samaneh Hosseinzadeh   +3 more
doaj  

Claudin‐6 Protein Expression in Atypical Teratoid/Rhabdoid Tumors Is Strongly Enriched in the Molecular Subgroup AT/RT‐TYR

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Claudin‐6 has emerged as a promising immunotherapeutic target, yet protein‐level data in atypical teratoid/rhabdoid tumors (AT/RTs) have been inconsistent. We analyzed 36 well‐characterized AT/RT samples and found membranous claudin‐6 protein expression in 58% of cases, with striking enrichment in the molecular subgroup AT/RT‐TYR (100%) and ...
Victoria E. Fincke, Christian Thomas, Michael C. Frühwald, Pascal D. Johann, Martin Hasselblatt   +4 more
wiley   +1 more source

Misdiagnosis of hereditary amyloidosis as AL (Primary) amyloidosis [PDF]

, 2002
Background: Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A -chain, lysozyme, or apolipoprotein A-I, is thought to be extremely rare and is not routinely included in the differential ...
Booth, D.R., Gilbertson, J.A., Hawkins, P.N., Booth, S.E., Lachmann, H.J., Gillmore, J.D., Bybee, A., Pepys, M.B.   +7 more
core  

Time Toxicity in Wilms Tumor: Quantifying the Burden of Healthcare Interaction in the First Year After Diagnosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Wilms tumor (WT) treatment imposes a significant time burden on patients and their families. Time toxicity is a patient‐centered metric that quantifies the burden of healthcare interaction. We sought to define time toxicity in the first year after diagnosis of WT and hypothesized that it would increase as tumor stage and treatment ...
Caleb Q. Ashbrook, Veerain Gupta, Nicholas J. Clark, Vijay Rings, Lauren E. Corona, Douglass B. Clayton, Daniel J. Benedetti   +6 more
wiley   +1 more source

Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review

Hereditary Cancer in Clinical Practice
Background Cancer family syndromes can predispose to malignancies of different sites, including brain and spinal tumours. Germline mutations associated with a high risk of cancer can also be found in patients with metastatic tumours of the brain.
Joanna Robaczyńska, Milena Kiljańczyk, Adam Stachowski, Krzysztof Lubiński, Angelos Dodopoulos, Rayane Benali, Adam Kiljańczyk, Rafał Becht, Cezary Cybulski, Jacek Gronwald, Jan Lubiński   +10 more
doaj   +1 more source