Results 121 to 130 of about 5,362,679 (291)

Relation between Genomic DNA Breakpoints in MLL Gene and Treatment Outcome in Infants with Acute Leukemia

Клиническая онкогематология, 2016
Aim. To evaluate the relation between genomic DNA breakpoints in MLL and translocation partner genes (TPG) and clinical parameters of infant AL. Methods.
Grigorii Anatol’evich Tsaur, C. Meyer, T. O. Riger, A. M. Kustanovich, E. V. Fleischman, Yu. V. Ol’shanskaya, A. M. Popov, O. I. Sokova, E. A. Matveeva, O. V. Nikulina, A. E. Drui, O. R. Arakaev, O. V. Streneva, S. A. Rumyantsev, E. V. Shorikov, A. G. Solodovnikov, L. I. Savel’ev, R. Marschalek, L. G. Fechina   +18 more
doaj   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Translocation t(2;7)(p12;q21-22) with dysregulation of the CDK6 gene mapping to 7q21-22 in a non-Hodgkin's lymphoma with leukemia

Haematologica, 2002
BACKGROUND AND OBJECTIVES: A female patient presented with splenomegaly and lymphocytosis with atypical lymphoid cell morphology. We identified t(2;7)(p12;q21) prompting studies of the translocation breakpoint and its consequences on protein expression ...
V Brito-Babapulle, AM Gruszka-Westwood, G Platt, CL Andersen, MO Elnenaei, E Matutes, AC Wotherspoon, SG Weston-Smith, D Catovsky   +8 more
doaj  

BCR (breakpoint cluster region)

, 1997
Review on BCR (breakpoint cluster region), with data on DNA, on the protein encoded, and where the gene is ...
Huret, JL
core   +1 more source

KMT2A-CBLrearrangements in acute leukemias: clinical characteristics and genetic breakpoints [PDF]

Blood Advances, 2021
Alex Bataller, Francesca Guijarro, Aurélie Caye-Eude, Marion Strullu, Arthur Sterin, Oscar Molina, Patrice Chevallier, Marketa Zaliova, Jan Zuna, Pablo Mozas, Laura Magnano, Nathalie Grardel, Pascale Cornillet-Lefebvre, Jen-Fen Fu, Lee-Yung Shih, Temenuzhka Boneva, Elisabeth Nacheva, Silvia Beà, Mònica López-Guerra, Clara Bueno, Pablo Menéndez, Jordi Esteve, Patrizia Larghero, Claus Meyer, Rolf Marschalek   +24 more
openaire   +2 more sources

Learning curve of nurse‐performed electromagnetic‐guided nasogastric tube placement in adult ICU patients: A multicenter prospective study

Nutrition in Clinical Practice, EarlyView.
Abstract Background Safe and timely nasogastric tube (NGT) placement is essential for effective enteral nutrition delivery in critically ill patients. Electromagnetic‐guided systems has been shown to improve placement accuracy and may reduce delays from confirmatory imaging, but evidence on how nurses acquire competence with this technology remains ...
Kazunao Mori, Hideaki Sakuramoto, Tomoaki Ikezawa, Megumi Kamogawa, Hideaki Note, Toshifumi Miki, Saiko Okamoto, Maiko Motoki, Hideki Hashimoto, Junko Tatsuno, Tomomi Yoshida, Saori Kajiwara, Masako Shirasaka, Megumi Mukouyama, Hitoshi Tsugu, Kensuke Nakamura   +15 more
wiley   +1 more source

Breath-holding and its breakpoint

, 2005
This article reviews the basic properties of breath-holding in humans and the possible causes of the breath at breakpoint. The simplest objective measure of breath-holding is its duration, but even this is highly variable.
Parkes, Michael
core   +1 more source

Putting the New CLSI Cephalosporin and Carbapenem Breakpoint Changes Into Practice in Clinical Microbiology Laboratories [PDF]

Journal of the Pediatric Infectious Diseases Society, 2012
At one hospital where you see patients, the clinical microbiology laboratory uses an automated commercial instrument for performing routine antimicrobial susceptibility testing (AST). At another the Kirby-Bauer disk diffusion method is used. The former has yet to change its AST reporting to comply with the new lower breakpoints for cephalosporins and ...
openaire   +2 more sources

Clinical outcomes of empirical topical nifuratel or nitrofurantoin in Streptococcus pyogenes vulvovaginitis: A retrospective study

International Journal of Gynecology &Obstetrics, EarlyView.
Marek Stefan, Kristyna Krogh, Jaroslava Zikova, Marta Novackova, Marcela Krutova   +4 more
wiley   +1 more source

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

The Journal of Pathology, EarlyView.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti, Martina Brigida Romanello, Luca Agnelli, Matteo Orlandi, Luca Bertoli, Sara Picinoli, Irene Pezzali, Giulio Eugenio Mandelli, Daniela Medicina, Giovanni Ribaudo, Adele Busico, Elena Conca, Vilma Pellegrini, Piera Balzarini, Daniele Gallucci, Anna Di Matteo, Davide Lombardi, Claudia Ghigna, Giancarlo Pruneri, Alessandra Gianoncelli, Marzia Rossato, William Vermi   +21 more
wiley   +1 more source