Results 91 to 100 of about 67,683 (260)

Quantum stochastic equation for test particle interacting with dilute Bose gas

, 2004
We use the stochastic limit method to study long time quantum dynamics of a test particle interacting with a dilute Bose gas. The case of arbitrary form-factors and an arbitrary, not necessarily equilibrium, quasifree low density state of the Bose gas is
A. N. Pechen, Accardi, Accardi, Accardi, Accardi, Accardi, Accardi, Accardi, Accardi, Accardi, Bagarello, Boldrighini, Conlon, Davies, Dümcke, Erdös, Esposito, Frigerio, Hudson, Kimura, Lanford, Lu, Nachtergaele, Spohn, Spohn   +24 more
core   +1 more source

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity

Human Genomics
AbstractThe identification of a pathogenic variant in the NF1 gene is an important step in the diagnosis of the tumor-predisposing and developmental syndrome neurofibromatosis, and is increasingly important in the characterization of sporadic tumors, in which NF1 loss identifies specific biologic subtypes.
Emanuele Bonetti, Serena Pellegatta, Nayma Rosati, Marica Eoli, Luca Mazzarella   +4 more
openaire   +2 more sources

NF1-Associated Astrocytomas

Pediatric Neurology Briefs, 2001
Nine symptomatic NF1-associated juvenile pilocytic astrocytomas (JPA) were examined for cancer-related gene products in a study using immuno-histochemistry and Western blots at Washington University School of Medicine, St Louis, MO; and the Mayo Clinic, Rochester, MN.
openaire   +3 more sources

NF1 (neurofibromin 1) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2010
Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire   +2 more sources

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, EarlyView.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations

Frontiers in Oncology
Neurofibromatosis type 1 (NF1) is a complex multisystem genetic disorder that requires long-term, age-specific monitoring and multidisciplinary care. NF1 symptom burden can significantly affect the quality of life and impose a substantial economic burden
Fahad A. Bashiri, Khaled Hundallah, Musaad Abukhaled, Mossaed Mohammed Alyahya, Amna Al Futaisi, Daniah Alshowaeir, Asmaa Al Tawari, Shaker Abdullah, Ata Ur Rehman Maaz, Eman Taryam AlShamsi, Walaa Alshuaibi, Faisal Alotaibi, Hesham Aldhalaan   +12 more
doaj   +1 more source

Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis

Human Genomics, 2011
Somatic gene mutations constitute key events in the malignant transformation of human cells. Somatic mutation can either actively speed up the growth of tumour cells or relax the growth constraints normally imposed upon them, thereby conferring a ...
Spyk Sebastian, Thomas Nick, Cooper David N, Upadhyaya Meena   +3 more
doaj   +1 more source

Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]

, 2019
We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C, Fernandez, Karen S, Hardee, Steven, Horvai, Andrew, Shah, Avanthi Tayi, Sweet-Cordero, E Alejandro, Turski, Michelle L   +6 more
core  

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source