Results 191 to 200 of about 6,285,524 (302)

Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics (GFCH)

American Journal of Hematology, EarlyView.
ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac, Audrey Bidet, Elise Chapiro, Nathalie Douet‐Guilbert, Jean‐Baptiste Gaillard, Nada Assaf, Nathalie Auger, Hend Chaker, Jasmine Chauzeix, Inge Govaerts, Hippolyte Guérineau, Christine Lefebvre, Pauline Roynard, Hélène Guermouche, Lucienne Michaux, Marie‐Bérengère Troadec, Lauren Véronèse   +16 more
wiley   +1 more source

MAKAAO, an open access resource linking human autoantibodies and autoimmune diseases. [PDF]

Commun Med (Lond)
Maury F, MAKAAO curators and contributors, Coulet A, de Dieuleveult M.   +3 more
europepmc   +1 more source

Proteomic Profiling of Nodal T‐Follicular Helper Cell Lymphoma Reveals Distinct Biological Signatures and Improves Prognostic Stratification Beyond the IPI

American Journal of Hematology, EarlyView.
ABSTRACT Nodal T‐follicular helper cell lymphoma (nTFHL), most commonly of angioimmunoblastic type, exhibits heterogeneous clinical outcomes that are not fully explained by current clinical and biological variables. While genetic alterations have been extensively investigated, its proteomic landscape remains largely unexplored.
David Beauvais, Yanis Zirem, Tristan Cardon, Soulaimane Aboulouard, Romain Dubois, Isabelle Fournier, Franck Morschhauser, Michel Salzet, Ibrahim Yakoub‐Agha, Marie Duhamel   +9 more
wiley   +1 more source

Prognostic value of the SPICE score for 1-year functional outcomes in patients with acute stroke requiring mechanical ventilation. [PDF]

BMJ Neurol Open
Mabiala T, Mazighi M, Collet M, Degos V, Duranteau J, Grégoire C, Sharshar T, Cortier D, Barhayiga B, Bula Bula M, Mananga Lelo G, Timsit JF, Sonneville R, de Montmollin E, SPICE investigators group.   +14 more
europepmc   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Correction: Genomics of Primary and Metastatic Cutaneous Melanoma: A Systematic Review and Meta-Analysis. [PDF]

Am J Clin Dermatol
Hoang MD, Bui TO, Dao VT, Le VQ, Lebbé C, Bousquet G.   +5 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Intravenous-to-enteral drug substitution in the ICU: a single-centre analysis of the potential to reduce the environmental footprint of critical care. [PDF]

Crit Care
Marois C, Gasperment M, Celier A, Preteux A, Gaucher G, Scherer L, Weiss N, Bihan K, Lecronier M, Liou A.   +9 more
europepmc   +1 more source

Arrêt (du parlement) de règlement pour les baux des maisons de Paris

[Acte.
France. Parlement de Paris. Auteur du texte
core  

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source