Results 211 to 220 of about 124,374 (336)

Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples. [PDF]

PLoS One
Wen L, Zhang Y, Zhang W, Mao A, Li X.
europepmc   +1 more source

RNA sequencing of sarcomas with simple karyotypes: identification and enrichment of fusion transcripts [PDF]

, 2015
Jakob Hofvander, Johnbosco Tayebwa, Jenny Nilsson, Linda Magnusson, Otte Brosjö, Olle Larsson, Fredrik Vult von Steyern, Henryk A. Domanski, Nils Mandahl, Fredrik Mertens   +9 more
openalex   +1 more source

Clonal heterogeneity as detected by metaphase karyotyping is an indicator of poor prognosis in acute myeloid leukemia.

Journal of Clinical Oncology, 2013
T. Bochtler, F. Stölzel, C. Heilig, C. Kunz, B. Mohr, A. Jauch, J. W. Janssen, M. Kramer, A. Benner, M. Bornhäuser, A. Ho, G. Ehninger, M. Schaich, A. Krämer   +13 more
semanticscholar   +1 more source

From Genomic and Epigenomic Maps to Medicines in Adult T‐Cell Leukemia/Lymphoma

Cancer Science, EarlyView.
ABSTRACT Adult T‐cell leukemia/lymphoma (ATL) is an aggressive and refractory hematologic malignancy that is caused by human T‐cell leukemia virus type‐1 (HTLV‐1) retrovirus. ATL results from a combination of viral latency and the accumulation of abnormalities throughout the genome, epigenome, transcriptome, and signaling pathways.
Kako Suzuki, Makoto Yamagishi
wiley   +1 more source

Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report. [PDF]

Am J Case Rep
Puppo I, Vardanyan A, Shahsuvaryan G, Petrosyan S, Pepanyan N, Nazaryan I.   +5 more
europepmc   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source

Chronic Myeloid Leukemia Harboring a Novel Four-Way Variant Translocation t(7;22;9;15)(p15;q11.2;q34.1;q22) With Cryptic Double Philadelphia Chromosomes. [PDF]

Cureus
Kamigaki S, Ito M, Nakano S, Takagi N.
europepmc   +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

The Silent Revolution of the Genome: The Role of Optical Genome Mapping in Acute Lymphoblastic Leukemia. [PDF]

Cancers (Basel)
Simio C, Molica M, De Fazio L, Rossi M.
europepmc   +1 more source

Venetoclax plus hypomethylating agents as effective bridge therapy to allogeneic stem cell transplant in relapsed/refractory acute myeloid leukaemia: A subanalysis of the AVALON study

British Journal of Haematology, EarlyView.
Elisabetta Petracci, Francesca Pavesi, Luca Castagna, Patrizia Zappasodi, Cristina Papayannidis, Calogero Vetro, Vincenzo Federico, Alessandro Cignetti, Erika Borlenghi, Nicola Fracchiolla, Luca Facchini, Luca Maurillo, Ernesta Audisio, Massimo Bernardi, Felicetto Ferrara, Francesco Lanza, Carmine Selleri, Ilenia Manfra, Claudio Cerchione, Jacopo Nanni, Andrea Davide Romagnoli, Giovanni Marconi, Chiara Zingaretti, Ivana Lotesoriere, Federica Gigli, Giovanni Martinelli, Elisabetta Todisco   +26 more
wiley   +1 more source