Results 71 to 80 of about 18,361 (285)

Added value of HER-2 amplification testing by multiplex ligation-dependent probe amplification in invasive breast cancer. [PDF]

PLoS ONE, 2013
BackgroundHER-2 is a prognostic and predictive marker, but as yet no technique is perfectly able to identify patients likely to benefit from HER-2 targeted therapies.
Chantal C H J Kuijpers, Cathy B Moelans, Henk-Jan van Slooten, Anja Horstman, John W J Hinrichs, Shaimaa Al-Janabi, Paul J van Diest, Mehdi Jiwa   +7 more
doaj   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples

Balkan Journal of Medical Genetics
Chromosomal abnormalities are the most common causes of early pregnancy losses (EPLs). In this study, we aimed to evaluate the incidence and spectrum of chromosomal abnormalities in EPLs and correlate them with different clinical characteristics.
Bozhinovski Gj, Terzikj M, Kubelka-Sabit K, Jasar Dz, Lazarevski S, Livrinova V, Plaseska-Karanfilska D   +6 more
doaj   +1 more source

SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries

JCRPE
INTRODUCTION: Short stature homeobox (SHOX) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis. The worldwide prevalence of SHOX variations in ISS varies from 2.5% to 15.0%.
Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur, Saurabh Seth, Anupriya Kaur, Inusha Panigrahi, Devi Dayal, Subhodip Pramanik, Kausik Mandal   +10 more
doaj   +1 more source

Usefulness of MLPA in the detection of SHOX deletions

European Journal of Medical Genetics, 2010
SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS). SHOX deletions are responsible for approximately two thirds of isolated haploinsufficiency; therefore, it is important to determine the most appropriate methodology for detection of gene ...
Mariana F A, Funari, Alexander A L, Jorge, Silvia C A L, Souza, Ana E C, Billerbeck, Ivo J P, Arnhold, Berenice B, Mendonca, Mirian Y, Nishi   +6 more
openaire   +2 more sources

Biallelic RFC1 Expansions Are a Rare Cause of Early‐Onset and Familial Parkinson's Disease

Clinical Genetics, EarlyView.
Biallelic pathogenic expansions in RFC1 contribute to the genetic etiology of PD, with a frequency similar to that of other known autosomal recessive PD genes. RFC1‐positive PD is currently not clinically distinguishable from RFC1‐negative PD, but genetic background may play a role in future therapies or other interventions.
Anja Kovanda, Lara Šušmelj, Helena Jaklič, Tadeja Lukežič, Aleš Maver, Igor Petrovic, Natasa Dragasevic Miskovic, Marina Svetel, Valentino Rački, Vladimira Vuletič, Ivana Novakovic, Borut Peterlin   +11 more
wiley   +1 more source

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, EarlyView.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source

MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience

Journal of Genetic Engineering and Biotechnology, 2022
Background The prenatal diagnosis of syndromes caused by chromosomal abnormality is a long-established part of obstetric care. Several DNA-based molecular approaches have provided rapid prenatal diagnosis of of cytogenomic abnormalities.
Ola M. Eid, Maha M. Eid, Marwa Farid, Rania M. A. Abdel Kader, Rana Mahrous, Sara H. El-Dessouky   +5 more
doaj   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Sequencing data and MLPA analysis data in support of the effectiveness and reliability of an asymmetric PCR-Based approach in preparing long MLPA probes

Data in Brief, 2015
ABI PRISM 3100 Genetic Analyzer, a multi-color fluorescence-based DNA analysis system with 16 capillaries operating in parallel, was ideal tool both for DNA sequencing and DNA fragment analysis [1,2].
Xingyuan Ling, Hai Long, Guang Pan, Zhinan Chen   +3 more
doaj   +1 more source