Results 101 to 110 of about 3,229,696 (385)

GUÍA: a digital platform to facilitate result disclosure in genetic counseling [PDF]

open access: hybrid, 2021
Sabrina A. Suckiel   +31 more
openalex   +1 more source

An ethical framework for genetic counseling in the genomic era

open access: yesJournal of Genetic Counseling, 2019
The field of genetic counseling has grown and diversified since the profession emerged in the early 1970s. In the same period, genomic testing has become more complex, profitable, and widespread.
L. Jamal, Will Schupmann, B. Berkman
semanticscholar   +1 more source

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

open access: yesMolecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir   +12 more
wiley   +1 more source

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

open access: yesIranian Journal of Public Health, 2019
Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important espe-cially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is preva-lent.
Niloofar BAZAZZADEGAN   +18 more
doaj   +1 more source

Models of preconception care implementation in selected countries. [PDF]

open access: yes, 2006
Globally, maternal and child health faces diverse challenges depending on the status of the development of the country. Some countries have introduced or explored preconception care for various reasons.
Delvoye, Pierre   +5 more
core   +2 more sources

Reduced vascular leakage correlates with breast carcinoma T regulatory cell infiltration but not with metastatic propensity

open access: yesMolecular Oncology, EarlyView.
A mouse model for vascular normalization and a human breast cancer cohort were studied to understand the relationship between vascular leakage and tumor immune suppression. For this, endothelial and immune cell RNAseq, staining for vascular function, and immune cell profiling were employed.
Liqun He   +8 more
wiley   +1 more source

Genetic Counseling and the Central Tenets of Practice.

open access: yesCold Spring Harbor Perspectives in Medicine, 2019
Genetic counseling is a profession growing and evolving at an extraordinary rate. This growth is driven by an explosion in what we know, as a result of progress in science, technology, and bioinformatics, and an explosion in what we do not know, as we ...
B. Biesecker
semanticscholar   +1 more source

Improving PARP inhibitor efficacy in bladder cancer without genetic BRCAness by combination with PLX51107

open access: yesMolecular Oncology, EarlyView.
Clinical trials on PARP inhibitors in urothelial carcinoma (UC) showed limited efficacy and a lack of predictive biomarkers. We propose SLFN5, SLFN11, and OAS1 as UC‐specific response predictors. We suggest Talazoparib as the better PARP inhibitor for UC than Olaparib.
Jutta Schmitz   +15 more
wiley   +1 more source

AN ASSESSMENT OF KNOWLEDGE AND ATTITUDES OF GENETIC COUNSELING SERVICES IN U.S. HTCs [PDF]

open access: yes, 2013
Hemophilia is a hereditary bleeding disorder which requires lifelong specialized care. A network of Hemophilia Treatment Centers (HTCs) exists to meet the medical needs of patients affected by hemophilia.
Brown, Deborah   +6 more
core  

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