Results 111 to 120 of about 3,120,324 (401)

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

Genetic Counseling in Neurodevelopmental Disorders.

Cold Spring Harbor Perspectives in Medicine, 2019
Neurodevelopmental disorders (NDDs), including global developmental delay (GDD), intellectual disability (ID), and autism spectrum disorder (ASD), represent a continuum of developmental brain dysfunction.
Alyssa Blesson, Julie S. Cohen
semanticscholar   +1 more source

Genetics and genetic counseling: Practices and opinions of primary care physicians in Turkey [PDF]

, 2007
PURPOSE: The purpose of this study was to assess the educational needs of physicians relating to genetics and genetic counseling in the Denizli region of Turkey.
Alwan A, Ayşe gaye Tomatir, Baars MJH, Beyza Akdağ, Burke W, Caulfield T, Christianson A, Epstein CJ, Erdemir AD, Gö, Gö, Genç, Genç, H&inodot, Hayflick SJ, Hunter A, Huriye Demirhan, Hülya çetin Sorkun, Kavalier F, Kirk M, Kolb SE, McGovern MM, Menasha JD, Mertens TR, Robins R, Tomat&inodot, Tomat&inodot, Tunç, Watson EK, Williamson PS   +29 more
core   +1 more source

Detection rate for ESR1 mutations is higher in circulating‐tumor‐cell‐derived genomic DNA than in paired plasma cell‐free DNA samples as revealed by ddPCR

Molecular Oncology, EarlyView.
Analysis of ESR1 mutations in plasma cell‐free DNA (cfDNA) is highly important for the selection of treatment in patients with breast cancer. Using multiplex‐ddPCR and identical blood draws, we investigated whether circulating tumor cells (CTCs) and cfDNA provide similar or complementary information for ESR1 mutations.
Stavroula Smilkou, Aliki Ntzifa, Victoria Tserpeli, Ioanna Balgkouranidou, Alkistis Papatheodoridi, Evangelia Razis, Helena Linardou, Christos Papadimitriou, Amanda Psyrri, Flora Zagouri, Stylianos Kakolyris, Evi Lianidou   +11 more
wiley   +1 more source

The Genetic Counseling Program at MCV [PDF]

, 1977
The Genetic Counseling Clinic at the Medical College of Virginia, established by Drs. Peter Mamunes and R.B. Young in 1973, has been supported since its inception by a clinical service grant from the National Foundation – March of Dimes; it is one of 83 ...
Mamunes, Peter, Nance, Walter E., Winter, Phyllis   +2 more
core   +1 more source

Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer

Molecular Oncology, EarlyView.
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia, Anouk C. de Jong, Lisanne F. van Dessel, Vanja de Weerd, Corine Beaufort, Jean Helmijr, José Alberto Nakauma‐González, Job van Riet, Paul Hamberg, Daniel Vis, Michiel S. van der Heijden, Nick Beije, Martijn P. Lolkema, Teoman Deger, Saskia M. Wilting, Ronald de Wit, Maurice P. H. M. Jansen, John W. M. Martens   +17 more
wiley   +1 more source

Integration of single‐cell and bulk RNA‐sequencing data reveals the prognostic potential of epithelial gene markers for prostate cancer

Molecular Oncology, EarlyView.
Prostate cancer is a leading malignancy with significant clinical heterogeneity in men. An 11‐gene signature derived from dysregulated epithelial cell markers effectively predicted biochemical recurrence‐free survival in patients who underwent radical surgery or radiotherapy.
Zhuofan Mou, Lorna W. Harries
wiley   +1 more source

Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer.

Journal of Clinical Oncology, 2018
Purpose Little is known about the extent to which genetic counseling is integrated into community practices for patients newly diagnosed with breast cancer. We examined the receipt of clinically indicated genetic counseling in these patients.
S. Katz, K. Ward, A. Hamilton, M. C. McLeod, L. Wallner, M. Morrow, R. Jagsi, S. Hawley, A. Kurian   +8 more
semanticscholar   +1 more source

A study of genetic counseling in Illinois [PDF]

, 1996
A study of genetic counseling in Illinois. Phone interviews with 17 Illinois genetic counselors were conducted as well as one visit to a genetic counseling clinic and observation of one genetic counseling session.
Gadberry, Jennifer M.
core   +1 more source

Etoposide‐induced cancer cell death: roles of mitochondrial VDAC1 and calpain, and resistance mechanisms

Molecular Oncology, EarlyView.
The complex mode of action of the topoisomerase II inhibitor etoposide in triggering apoptosis involves several mechanisms: overexpression of the mitochondrial protein VDAC1, leading to its oligomerization and formation of a large channel that mediates the release of pro‐apoptotic protein; and overexpression of the apoptosis regulators p53, Bax, and ...
Aditya Karunanithi Nivedita, Varda Shoshan‐Barmatz   +1 more
wiley   +1 more source