Results 211 to 220 of about 93,691 (297)

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation. [PDF]

Front Genet
León A, Aguirre AS, Lindstrand A, Ek M, Romero VI.   +4 more
europepmc   +1 more source

Papillary renal cell carcinoma, formerly known as Type 2: a single institutional study addressing histologic and molecular features

Histopathology, EarlyView.
Papillary renal cell carcinoma (pRCC) accounts for 15%–20% of RCC cases and is the second most common histologic subtype of RCC. In contrast to other common RCC subtypes, there continues to be ongoing debate about how to classify RCCs with papillary architecture and eosinophilic cytoplasm, given the heterogeneity of histologic, IHC and molecular ...
Melissa Yuwono Tjota, Jung Woo Kwon, Pankhuri Wanjari, Tatjana Antic   +3 more
wiley   +1 more source

Comprehensive Detection of Chromosomal and Genomic Abnormalities via Next-Generation Sequencing-Based Genomic Proximity Mapping Improves Diagnostic Classification of Hematologic Neoplasms. [PDF]

Cancers (Basel)
Chen X, Fang H, Wu Y, Meshinchi S, Naresh KN, Reister E, Langford K, Eacker SM, Liu YJ.   +8 more
europepmc   +1 more source

Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements. [PDF]

Genes Dev, 2013
Zhang CZ, Leibowitz ML, Pellman D.
europepmc   +1 more source

Combinatorial targeting of MYC/BCL2‐associated vulnerabilities in high‐grade B‐cell lymphoma

British Journal of Haematology, EarlyView.
Giulio Donati, Paola Nicoli, Federica Miele, Paola Podini, Giorgia Dina, Angelo Quattrini, Bruno Amati   +6 more
wiley   +1 more source

GREB1‐rearranged uterine tumour shares a common DNA methylation signature with ESR1‐rearranged UTROSCT

Histopathology, EarlyView.
GREB1‐rearranged uterine tumours share DNA methylation profiles with UTROSCTs, supporting a close relationship. Despite differences in morphology and genomic complexity, their epigenetic similarity supports the inclusion of these tumours within the UTROSCT spectrum. Background and objectives GREB1‐rearranged uterine tumours encompass a group of uterine
Cheng‐Han Lee, Yow‐Shan Lee, Jennifer A Bennett, David L Kolin, Jen‐Chieh Lee, Hsuan‐Ying Huang, Martin Köbel, Mark Sementsov, Brendan C Dickson, Christian Koelsche, Friedrich Kommoss, Andreas von Deimling, Felix K F Kommoss   +12 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

Philadelphia chromosome‐positive acute lymphoblastic leukaemia in children and adolescents: A changing treatment landscape and a methodological challenge

British Journal of Haematology, EarlyView.
Adriana Balduzzi, Maria Grazia Valsecchi, Thai Hoa Tran, Jan Zuna, Veronica Leoni, Gunnar Cario, Grazia Fazio, Virginie Gandemer, Sarah K. Tasian, Inge M. van der Sluis, Nicolò Peccatori, Rosanna Parasole, Stefania Monterisi, Mignon L. Loh, Meenakshi Devidas, Stephen P. Hunger, John A. Kairalla, Paola De Lorenzo, Lewis B. Silverman, Andrea Biondi   +19 more
wiley   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

Exploring the synergy between telomere length and genomic complexity in CLL

British Journal of Haematology, EarlyView.
Silvia Ramos‐Campoy, Anna Puiggros, Joanna Kamaso, Helen Parker, Gian Matteo Rigolin, Claudia Haferlach, María José Larráyoz, Rosa Collado, Rocío Salgado, María José Calasanz, Laurence Etter, Alberto Valiente, Pau Abrisqueta, Francesc Bosch, Eva Gimeno, Antonio Cuneo, Florence Nguyen‐Khac, Jacqueline Schoumans, Jonathan C. Strefford, Blanca Espinet   +19 more
wiley   +1 more source