Results 101 to 110 of about 47,309 (261)

Intensive Chemotherapy With or Without Midostaurin in Adults ≥ 60 Years Old With FLT3‐Mutated AML: A FILO‐DATAML‐PETHEMA Real‐World Study

American Journal of Hematology, EarlyView.
ABSTRACT The addition of midostaurin (MIDO) to intensive chemotherapy (IC) improves survival in younger adults with FLT3‐mutated acute myeloid leukemia (AML); however, real‐world data in elderly patients (≥ 60 years) are limited. This large, retrospective, multicenter study from three European registries (PETHEMA, FILO, DATAML) evaluated MIDO+IC (n ...
Gaspar Aspas Requena, Pau Montesinos, Emilie Bérard, Sarah Bertoli, Rebeca Rodríguez‐Veiga, Celestine Simand, Laura Torres, Pierre Peterlin, Mar Tormo, Rudy Birsen, Juan Miguel Bergua‐Burgues, Emmanuelle Tavernier, Teresa Bernal del Castillo, Martin Carré, Cristina Gil, Adrien Contejean, Eduardo Rodríguez‐Arbolí, Corentin Orvain, Carlos Rodríguez‐Medina, Lauren Veronese, Maria Jose Sayas Lloris, Eric Delabesse, Josefina Serrano, Ariane Mineur, María García‐Fortes, Romain Guieze, Maria Luz Amigo, Arnaud Pigneux, Lorenzo Algarra Algarra, Christian Recher, Pierre‐Yves Dumas, David Martínez‐Cuadrón   +31 more
wiley   +1 more source

Mild phenotype due to tandem duplication of l7p11.2

American Journal of Medical Genetics, 2000
We present a mildly affected girl with de novo dup(17)(p11.2p11.2). The patient was evaluated because of minor anomalies noted during a hospitalization for nonrecurrent tonic-clonic seizures associated with transient hypoglycemia. She also had unilateral renal hypoplasia and relative short stature, but at 2 years of age, she scored within the low ...
Schneider, Michael C, Hughes, Christopher R, Forrester, Shawnia, Kimonis, Virginia   +3 more
openaire   +3 more sources

Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex

American Journal of Hematology, EarlyView.
ABSTRACT The epidemiology of myelodysplastic syndromes/neoplasms (MDS) is challenging to define due to inconsistent reporting, complex diagnostic procedures, and evolving diagnostic criteria. Using the National MDS Natural History Study—a prospective cohort with centrally adjudicated histopathology and genetic variant review—we characterized the ...
Nancy Gillis, Christelle Colin‐Leitzinger, Yi‐Han Tang, Michael Otterstatter, Seth Sherman, Ling Zhang, Lynn C. Moscinski, Mary Ellen Walker, Jeffrey S. Painter, Gregory A. Abel, Tareq Al Baghdadi, H. Joachim Deeg, James M. Foran, Steven D. Gore, Alexandra M. Harrington, Steven H. Kroft, Jane Jijun Liu, Wael Saber, Shamsuddin Virani, Rafael Bejar, R. Coleman Lindsley, Eric Padron, Matthew J. Walter, Rami Komrojki, Amy E. DeZern, Mikkael A. Sekeres   +25 more
wiley   +1 more source

Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene

Case Reports in Oncological Medicine, 2014
Background. Neurofibromatosis type 1 is a genetic disorder caused by loss-of-function mutations in a tumor suppressor gene (NF1) which codifies the protein neurofibromin.
Gustavo Fernandes, Mirela Souto, Frederico Costa, Edite Oliveira, Bernardo Garicochea   +4 more
doaj   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Genome Medicine
Background MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2.
Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M. B. Carvalho   +42 more
doaj   +1 more source

Metabolic fate of drugs of abuse and new psychoactive substances: A pilot study on a novel workflow using a zebrafish embryo model combined with human microdosing

British Journal of Clinical Pharmacology, EarlyView.
Aim The aim of this study was to develop a novel workflow to identify human urine biomarkers for drugs of abuse and new psychoactive substances. Metabolites of amphetamine, cocaine, LSD, MDMA, methamphetamine, THC, MDMB‐CHMICA, and MDPPP were first identified in a zebrafish embryo (ZE) metabolism study followed by comparison to most abundant human ...
Simon K. Wellenberg, Tanja M. Gampfer, Lea Wagmann, Philip Schippers, Jennifer Herrmann, Rolf Müller, Folker Westphal, Markus R. Meyer   +7 more
wiley   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband

Case Reports in Genetics, 2011
Schizophrenia is a debilitating mental disorder affecting approximately 1% of the world's population. Childhood onset schizophrenia (COS), defined as onset before age 13, is a rare and severe form of the illness that may have more salient genetic ...
Nicole K. A. Wilson, Yohan Lee, Robert Long, Karen Hermetz, M. Katharine Rudd, Rachel Miller, Judith L. Rapoport, Anjené M. Addington   +7 more
doaj   +1 more source

More Than 10 Years on: Does a State‐of‐the‐Art Review and Synthesis Offer New Frameworks to Guide Future Design for Remanufacturing Research?

Business Strategy and the Environment, EarlyView.
ABSTRACT There is strong evidence that design for remanufacturing (DfRem) can reduce initial‐design carbon emissions by up to 30%, and that product design can critically affect remanufacturing feasibility, yet academic adoption of DfRem remains limited.
Okechukwu Okorie, Yogendra Singh, Jennifer Russell, Chris Turner, Kingsley Oturu   +4 more
wiley   +1 more source