Results 101 to 110 of about 199,361 (374)

Genetic Counseling Supervisor Competencies: Results of a Delphi Study. [PDF]

, 2013
Clinical supervision is a critical component of genetic counseling student preparation, yet empirically-determined competencies for genetic counseling supervisors are lacking.
Borders, L. DiAnne, Callanan, Nancy, NC DOCKS at The University of North Carolina at Greensboro   +2 more
core  

Integrative systems‐level analysis reveals a contextual crosstalk between hypoxia and global metabolism in human breast tumors

Molecular Oncology, EarlyView.
Breast tumor samples scored for metabolic deregulation (M1 to M3) were given a hypoxia score (HS). The highest HS occurred in patients with strongest metabolic deregulation (M3), supporting tumor aggressiveness. HS correlated with the highest number of metabolic pathways in M1. This suggests hypoxia to be an early event in metabolic deregulation.
Raefa Abou Khouzam, Salem Chouaib, Mohammad Askandar Iqbal   +2 more
wiley   +1 more source

Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population

Scientific Reports
Copy number variations in the SMN1 gene on chromosome 5 are the primary cause of Spinal Muscular Atrophy (SMA) disease, characterized by muscle weakness and degeneration due to impaired alpha motor neurons in the spinal cord.
Ali Khanbazi, Maryam Beheshtian, Maryam Azad, Masoumeh Akbari Kelishomi, Fariba Afroozan, Fatemeh Fatehi, Khadijeh Noudehi, Shima Zamanian Najafabadi, Mohammadamin Omrani, Haleh Habibi, Maryam Taghdiri, Isa Abdi Rad, Shahriar Nafissi, Aria Jankhah, Hilda Yazdan, Parvaneh Daneshmand, Seyed Hosseinali Saberi, Kimia Kahrizi, Ariana Kariminejad, Hossein Najmabadi   +19 more
doaj   +1 more source

Loss of SETD2 in wild‐type VHL clear cell renal cell carcinoma sensitizes cells to STF‐62247 and leads to DNA damage, cell cycle arrest, and cell death characteristic of pyroptosis

Molecular Oncology, EarlyView.
Vulnerability to the small molecule STF‐62247 is observed in SETD2‐inactivated VHL‐positive clear cell renal cell carcinoma (ccRCC) cells. DNA damage and loss of CDC25A leads to cell cycle arrest in S phase. Cleavage of caspase‐3 (CASP3) and gasdermin E (GSDME) suggests cell death by pyroptosis.
Mathieu Johnson, Sandra Turcotte
wiley   +1 more source

Semi‐supervised classification of fundus images combined with CNN and GCN

Journal of Applied Clinical Medical Physics, Volume 23, Issue 12, December 2022., 2022
Abstract Purpose Diabetic retinopathy (DR) is one of the most serious complications of diabetes, which is a kind of fundus lesion with specific changes. Early diagnosis of DR can effectively reduce the visual damage caused by DR. Due to the variety and different morphology of DR lesions, automatic classification of fundus images in mass screening can ...
Sixu Duan, Pu Huang, Min Chen, Ting Wang, Xiaolei Sun, Meirong Chen, Xueyuan Dong, Zekun Jiang, Dengwang Li   +8 more
wiley   +1 more source

A Decade of Genetic Counseling in Frontotemporal Dementia Affected Families: Few Counseling Requests and much Familial Opposition to Testing [PDF]

, 2009
A decade of genetic counseling of frontotemporal dementia (FTD) affected families has generated two important observations. First, the uptake rate for presymptomatic testing for FTD is low in our department of Clinical Genetics at the Erasmus Medical ...
A. C. Brouwer-DudokdeWit, A. Maat-Kievit, A. Tibben, A. Tibben, B. Bowles Biesecker, B. Carter, B. K. Barber, B. Martindale, D. Dooijes, D. H. Olson, H. D. Grootevant, H. Seelaar, I. F. Bronner, J. A. Daniels, J. C. Swieten Van, J. C. Swieten Van, J. H. Fanos, J. Rolland, J. S. Goldman, J. S. Rolland, J. S. Snowden, J. Swieten van, J. Zee Van der, K. D. Mickelson, K. M. White, K. Sleegers, L. Meer Van der, L. Mercy, M. Decruyenaere, M. Duisterhof, M. Duisterhof, M. F. N. Niermeijer, M. Gael van, M. S. Mahler, M. Vamos, P. Blos, P. Heutink, R. Rademakers, R. Rademakers, S. H. McDaniel, S. M. Rosso, S. R. Riedijk   +41 more
core   +2 more sources

Unraveling epigenetic heterogeneity across gastrointestinal adenocarcinomas through a standardized analytical framework

Molecular Oncology, EarlyView.
This study shows that patients with gastrointestinal adenocarcinomas can be stratified into six distinct subtypes based on genome‐scale DNA methylation profiling. This stratification, achieved using a robust analytical framework, aligns with established tumor characteristics and holds potential to support prognostication.
Rita Pinto, Hege Marie Vedeld, Guro Elisabeth Lind, Marine Jeanmougin   +3 more
wiley   +1 more source

A small footprint couch‐top support device for image‐guided radiotherapy of heavy patients

Journal of Applied Clinical Medical Physics, Volume 23, Issue 12, December 2022., 2022
Abstract Purpose Patients with body weights close to or above 400 lbs present unique challenges in radiation therapy since the weight limit of most treatment couches decreases as the couch‐top extends toward the treatment gantry. The purpose of this work was to develop a small footprint couch‐top support platform to safely perform image‐guided ...
Huixiao Chen, Kevin Morley, Ronnie Rodriguez, Emily Draeger, Muhammad Shafiq ul Hassan, Zhe (Jay) Chen   +5 more
wiley   +1 more source

Impact of the 2014 NCCN guidelines for genetic testing on an academic gynecologic oncology practice [PDF]

, 2016
OBJECTIVE: To determine the impact the change in NCCN guidelines for genetic counseling had on an academic Gynecologic Oncology practice. Further, to evaluate the patients being referred and the effectiveness of the genetic counseling referral process ...
Hehir, Kristin
core   +1 more source

Genetic Counseling Services and Training of Genetic Counselors in Israel: An Overview [PDF]

, 2013
Genetic counseling services have existed in Israel since 1964 and are available in almost all the major hospitals. Given the socialized healthcare system and small country size, genetic services are generally accessible and often free.
Sagi, Michal, Uhlmann, Wendy R.
core   +1 more source