Results 131 to 140 of about 160,061 (270)

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy

Epilepsia, EarlyView.
Abstract Objective SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1‐related disorders.
Alicia G. Harrison, Jan H. Magielski, Ian McSalley, Shiva Ganesan, Anna J. Prentice, Kristin G. Cunningham, Samuel R. Pierce, Michael J. Boland, Benjamin L. Prosser, Ingo Helbig, Jillian L. McKee   +10 more
wiley   +1 more source

Erratum to: CIP2A is overexpressed and involved in the pathogenesis of chronic myelocytic leukemia by interacting with breakpoint cluster region-Abelson leukemia virus [PDF]

, 2014
Juandong Wang, Tao Huang, Jianzhi Sun, Yuan Yu, Zhifang Liu, Wenjuan Li, Jihui Jia, Chunyan Chen   +7 more
openalex   +1 more source

Targeted Next Generation Sequencing Reveals a Third Breakpoint Cluster Region and New Partner Genes in the KMT2A Recombinome

, 2021
Claus Meyer, Patrizia Larghero, Bruno A. Lopes, Aurélie Caye‐Eude, Hélène Cavé, Marius Külp, Matthew J. Smith, Rosemary Sutton, Nicola Venn, Karin Nebral, Susanne Kubetzko, Beat Schaefer, Grazia Fazio, Giovanni Cazzaniga, Mariana Emerenciano, Rolf Marschalek   +15 more
openalex   +1 more source

Rearrangement of the breakpoint cluster region and expression of P210 BCR-ABL in a "masked" Philadelphia chromosome-positive acute myeloid leukemia [PDF]

, 1988
CM Price, Feyruz V. Rassool, MK Shivji, John Gow, CJ Tew, C Haworth, JM Goldman, LM Wiedemann   +7 more
openalex   +3 more sources

Panmictic Panacea? Demonstrating Good Practices for Developing Spatial Stock Assessments Through Application to Alaska Sablefish (Anoplopoma fimbria)

Fish and Fisheries, EarlyView.
ABSTRACT Marine species and associated fisheries demonstrate complex spatial dynamics driven by biological, ecosystem and socioeconomic factors and integrating these spatial dynamics into stock assessment models can improve fishery management advice.
Matthew L. H. Cheng, Craig A. Marsh, Daniel R. Goethel, Peter‐John F. Hulson, Katy Echave, Benjamin C. Williams, Aaron M. Berger, Curry J. Cunningham   +7 more
wiley   +1 more source

A novel leukemia cell line, MR-87, with positive Philadelphia chromosome and negative breakpoint cluster region rearrangement coexpressing myeloid and early B-cell markers [PDF]

, 1988
J Okamura, Shuhei Yamada, E Ishii, Toshiro Hara, Hiroyuki Takahira, Junji Nishimura, K Yumura, Kyungsae Ha, Kozo Takase, Y Enomoto   +9 more
openalex   +3 more sources

Common Hematologic Emergencies—Acute Promyelocytic Leukemia and Microangiopathic Hemolytic Anemias—A Pivotal Role of Clinical Laboratory

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova, Nicolas Ulrich Edgar, Anton V. Rets   +2 more
wiley   +1 more source

Market Potential, Road Accessibility, and Firm Births: Evidence From 20 Years of Road Investment

Journal of Regional Science, EarlyView.
ABSTRACT This paper investigates the causal effects of road accessibility, measured by market potential, on firm births in Portuguese municipalities between 1991 and 2016, a period marked by significant road improvements. We address the endogeneity of market potential by employing instrumental variables within Poisson Pseudo‐maximum Likelihood ...
Mauricio S. de Carvalho, Patrícia C. Melo, Bruno T. Rocha, Isabel Proença, João de Abreu e Silva   +4 more
wiley   +1 more source

Identification of a breakpoint cluster region 3' of the ribophorin I gene at 3q21 associated with the transcriptional activation of the EVI1 gene in acute myelogenous leukemias with inv(3)(q21q26) [PDF]

, 1994
Kazumi Suzukawa, E Parganas, A Gajjar, T Abe, S Takahashi, K Tani, S Asano, H Asou, N Kamada, Jun Yokota   +9 more
openalex   +3 more sources

Chronic Myeloid Leukemia with Rare e1a3 BCR-ABL Transcript

Pakistan Journal of Medicine and Dentistry
Chronic myelogenous leukemia (CML) results from neoplastic transformation of a hematopoietic stem cell. It is cytogenetically characterized by the presence of Philadelphia chromosome which results from reciprocal translocation t(9;22) that juxtaposes ...
Najia Tabassum, Rubina Ghani, Mohammad Saboor, Moinuddin Moinuddin   +3 more
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