Results 91 to 100 of about 43,589 (247)

Duplications of KIAA1549 and BRAF screening by Droplet Digital PCR from formalin-fixed paraffin-embedded DNA is an accurate alternative for KIAA1549-BRAF fusion detection in pilocytic astrocytomas [PDF]

, 2018
Pilocytic astrocytomas represent the most common glioma subtype in young patients and account for 5.4% of all gliomas. They are characterized by alterations in the RAS–MAP kinase pathway, the most frequent being a tandem duplication on chromosome 7q34 ...
Appay, Romain, Badiali, Manuela, Barets, Doriane, Colin, Carole, Figarella-Branger, Dominique, Fina, Frédéric, Giangaspero, Felice, Korshunov, Andrey, M. Pfister, Stefan, Macagno, Nicolas, Ordioni, Joanna, Padovani, Laëtitia, Scavarda, Didier, T. W. Jones, David   +13 more
core   +3 more sources

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source

Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]

, 2011
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill, Abruzzo, Arnold, Camps, Celeda, Cremer, D. Ioannou, D.K. Griffin, Dauwerse, DeSilva, E.J. Meershoek, Egozcue, Emmerich, Ersfeld, Fiegler, Finch, Finch, Foster, Gabriel, Griffin, Griffin, Griffin, Griffin, Griffin, Handyside, Harper, Harper, Harton, Jauch, Julien, Kallioniemi, Kearns, Kolluri, Langer, Lichter, M. Ellis, Mann, Matsuzaki, Muller, Munne, Munne, Munne, Munne, Nederlof, Nordgren, Olszewska, O’Keefe, Pinkel, Quilter, Rennstam, Roberts, Rodriguez, Rottger, Sbracia, Schardin, Schrock, Speicher, Syvanen, Tempest, Tsuchiya, Walling, Wienberg   +61 more
core   +1 more source

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

Counting absolute number of molecules using unique molecular identifiers [PDF]

, 2011
Advances in molecular biology have made it easy to identify different DNA or RNA species and to copy them. Identification of nucleic acid species can be accomplished by reading the DNA sequence; currently millions of molecules can be sequenced in a ...
Anna Vä, Jussi Taipale, Kasper Karlsson, Martin Bonke, Sten Linnarsson, Teemu Kivioja   +5 more
core   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option

American Journal of Perinatology Reports, 2016
Objective Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum.
Sarah Mayes, Syed Hashmi, Mark A. Turrentine, Sandra Darilek, Lara A. Friel, Jennifer Czerwinski   +5 more
doaj   +1 more source

Daunorubicin‐45 Vs. Daunorubicin‐60 for Induction in Intermediate‐Age Patients of AML: Results From a Randomized Trial

Cancer Science, EarlyView.
Daunorubicin dose escalation from 45 to 60 mg/m2 provides no clinical benefit for AML patients aged 55–65. A dose of 45 mg/m2 should remain the preferred regimen for this population. ABSTRACT Daunorubicin dose optimization remains crucial for AML treatment.
Chunlin Zhou, Le Li, Yan Li, Kaiqi Liu, Yuntao Liu, Dong Lin, Benfa Gong, Guangji Zhang, Xiaoyuan Gong, Qiuyun Fang, Bingcheng Liu, Shaowei Qiu, Ying Wang, Hui Wei, Yingchang Mi, Jianxiang Wang   +15 more
wiley   +1 more source

Immunophenotypical and cytogenetic features of tumor cells in a patient with chronic lymphocytic leukemia associated with prolonged exposure to irradiation

Клиническая онкогематология, 2013
In this article, we describe immunoрhenotypical and cytogenetic features of tumor cells in the patient with chronic lymphocytic leukemia (CLL) and prolonged exposure to irradiation in the history.
S. N. Kolyubaeva, I. A. Sukhina, V. Yu. Nikitin, T. V. Isakova, A. S. Polyakov, S. N. Malakhova, L. А. Myakoshina, J. N. Vinogradova, N. V. Il’yin   +8 more
doaj   +1 more source

Genetic alterations in gliosarcoma and giant cell glioblastoma [PDF]

, 2015
The majority of glioblastomas develop rapidly with a short clinical history (primary glioblastoma IDH wild-type), whereas secondary glioblastomas progress from diffuse astrocytoma or anaplastic astrocytoma.
ANTONELLI, MANILA, Capper, David, GIANGASPERO, FELICE, Kleihues, Paul, Mittelbronn, Michel, Nonoguchi, Naosuke, Oh, Ji Eun, Ohgaki, Hiroko, Ohta, Takashi, Paulus, Werner, Pierscianek, Daniela, Satomi, Kaishi, Sure, Ulrich, Vital, Anne   +13 more
core   +1 more source