Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Genetic screen”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 523 records · Page 29Linked to original sources
PubMed2006

[Genetic screening among children with congenital and early childhood hearing loss].

Prevalence of mutations of genes of connexin 26, connexin 30 and mitochondrial DNA was studied among children with congenital and early childhood hearing loss. Screening with available methods of DNA diagnosis was conducted in some specialized schools. It was found that genetic disorders among children with congenital and early childhood hearing loss are rather frequent. Genetic consulting of parents with normal hearing carrying abnormal gene can help avoid birth of deaf children.

Age Factors↗
PubMed1997

Multiple endocrine neoplasia type II and familial medullary thyroid carcinoma. Impact of genetic screening on management.

The identification of ret protooncogene mutations in MEN-II and Hirschsprung disease has not only improved the clinical management of these genetic conditions but has also provided important information regarding mechanisms of transformation and neural crest development. An indication of how neural-crest cells migrate during embryonic life and the key processes involved in their differentiation now seems within reach. The continued pace of scientific discovery suggests that our understanding of and ability to prevent or treat hereditary and sporadic forms of MTC will continue to improve.

Carcinoma, Medullary↗
PubMed2000

A genetic screen for modifiers of a kinase suppressor of Ras-dependent rough eye phenotype in Drosophila.

kinase suppressor of Ras (ksr) encodes a putative protein kinase that by genetic criteria appears to function downstream of RAS in multiple receptor tyrosine kinase (RTK) pathways. While biochemical evidence suggests that the role of KSR is closely linked to the signal transduction mechanism of the MAPK cascade, the precise molecular function of KSR remains unresolved. To further elucidate the role of KSR and to identify proteins that may be required for KSR function, we conducted a dominant modifier screen in Drosophila based on a KSR-dependent phenotype. Overexpression of the KSR kinase domain in a subset of cells during Drosophila eye development blocks photoreceptor cell differentiation and results in the external roughening of the adult eye. Therefore, mutations in genes functioning with KSR might modify the KSR-dependent phenotype. We screened approximately 185,000 mutagenized progeny for dominant modifiers of the KSR-dependent rough eye phenotype. A total of 15 complementation groups of Enhancers and four complementation groups of Suppressors were derived. Ten of these complementation groups correspond to mutations in known components of the Ras1 pathway, demonstrating the ability of the screen to specifically identify loci critical for Ras1 signaling and further confirming a role for KSR in Ras1 signaling. In addition, we have identified 4 additional complementation groups. One of them corresponds to the kismet locus, which encodes a putative chromatin remodeling factor. The relevance of these loci with respect to the function of KSR and the Ras1 pathway in general is discussed.

Amino Acid Sequence↗
PubMedDate not supplied

Detecting fetal DNA from dried maternal blood spots: another step towards broad scale non-invasive prenatal genetic screening and feasible testing.

Both intact fetal cells and cell-free fetal DNA are present in the maternal circulation and have been used for non-invasive prenatal genetic diagnosis. However, broad clinical application awaits development of robust methods for collecting, transporting and enriching maternal blood samples to recover rare fetal cells. To circumvent this impediment, we have devised a reliable method of fetal DNA detection using dried maternal blood spots and real-time polymerase chain reaction. Fetal Y-specific (DYS1) sequences were detected in all 19 (100%) maternal blood specimens from women carrying male fetuses, in genome equivalents of 4.20-24.68 per ml of blood; the ubiquitous glyceraldehyde 3-phosphate dehydrogenase (GAPDH) gene, reflecting both maternal and fetal DNA, concurrently showed 43,684 to 680,357 genome equivalents per ml of blood. The results demonstrate that fetal DNA detection using dried maternal blood spots is highly feasible and easily adaptable for population screening.

Adult↗
PubMed2003

Prenatal genetic screening for intellectual disability.

BACKGROUND: This paper argues that the main ground for the moral justification of screening and termination of foetuses on grounds of intellectual disability stems from a conception of what it is to lead a good human life. METHOD: Having established this claim, three well-known philosophical theories of a good human life are briefly presented. CONCLUSION: In the light of consideration of these theories, it is proposed that life with intellectual disability is not necessarily incompatible with the conditions necessary for leading a good human life.

Female↗
PubMed2000

Prenatal genetic screening.

This article presents a discussion of screening principles and techniques available to screen for common birth defects during pregnancy. Sixty-five to 70% of women have serum screening and /or ultrasound during pregnancy to evaluate the health and well-being of the developing fetus. The most common birth defects identified by screening include neural tube defects and chromosome abnormalities. Nurses employed in prenatal care settings need to have accurate information they can provide to women so they understand the benefits and limitations of screening. Timely presentation of information and identification of available resources will help nurses minimize confusion and provide support for women as they proceed with pregnancy screening.

Adult↗