Results 51 to 60 of about 145,125 (343)

Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study

Frontiers in Oral Health
IntroductionThis study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.MethodsA cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a
Samuel Trezena, Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D. Coletta, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior   +10 more
doaj   +1 more source

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity

Journal of Human Immunity
Here, we report the 2024 update of the phenotypic classification by the International Union of Immunological Societies (IUIS) expert committee on inborn errors of immunity (IEI).
A. Bousfiha, Leïla Jeddane, Abderrahmane Moundir, M. Poli, Ivona Aksentijevich, C. Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R. J. Seppänen, R. Somech, H. Su, Kathleen E. Sullivan, Troy R. Torgerson, S. Tangye, Isabelle Meyts   +18 more
semanticscholar   +1 more source

Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism.

The Journal of Applied Laboratory Medicine, 2020
BACKGROUND The application of whole-exome sequencing for the diagnosis of genetic disease has paved the way for systems-based approaches in the clinical laboratory.
Lisa A. Ford, A. Kennedy, K. Goodman, K. Pappan, A. M. Evans, Luke A. D. Miller, Jacob E. Wulff, Bobby R Wiggs, J. Lennon, S. Elsea, D. Toal   +10 more
semanticscholar   +1 more source

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

Frontiers in Genetics, 2021
IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter   +3 more
doaj   +1 more source

Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.

Annual Review of Pathology, 2020
It was first demonstrated in the late 19th century that human deaths from fever were typically due to infections. As the germ theory gained ground, it replaced the old, unproven theory that deaths from fever reflected a weak personal or even familial ...
J. Casanova, L. Abel
semanticscholar   +1 more source

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

Orphanet Journal of Rare Diseases, 2018
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera   +8 more
doaj   +1 more source

Inborn Errors of Immunity and Cancer

Biology, 2021
Simple Summary Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system. The overall risk for cancer in children with IEI ranges from
A. Tiri, R. Masetti, F. Conti, Anna Tignanelli, E. Turrini, P. Bertolini, S. Esposito, A. Pession   +7 more
semanticscholar   +1 more source

Turning Points in the Evolution of Isolated Neutron Stars' Magnetic Fields [PDF]

, 2006
During the life of isolated neutron stars (NSs) their magnetic field passes through a variety of evolutionary phases. Depending on its strength and structure and on the physical state of the NS (e.g.
A. Alpar, A. Alpar, A. Bonanno, A. Cumming, A. Cumming, A. Dolginov, A. Heger, A. Muslimov, A. Potekhin, A. Reisenegger, A. Schwope, C. Cutler, C. Ott, C. Thompson, D. Bhattacharya, D. Konenkov, D. Page, D. Page, D. Shalybkov, D. Yakovlev, D. Yakovlev, E. Flowers, E. Gudmundsson, E. Pitts, F. Haberl, F. Haberl, F. Haberl, F. Haberl, F. Krause, F. Winterberg, G. Greenstein, G. Wrihgt, H. Chau, H. Spruit, H. Spruit, H.-J. Wiebicke, J. Braithwaite, J. Braithwaite, J. Braithwaite, J. Braithwaite, J. Gil, J. Miralles, J. Miralles, J. Miralles, J. Pons, J. Pons, J. Pérez-Azorín, J. Pérez-Azorín, J. Trümper, J. Ziman, K. Petrovay, K. Prendergast, L. Villain, M. Adelsberg van, M. Colpi, M. Rheinhardt, M. Rheinhardt, M. Rheinhardt, M. Rheinhardt, M. Ruderman, O. Gnedin, P. Goldreich, P. Haensel, P. Jones, P. Markey, P. Podsiadlowski, P. Roberts, R. Blandford, R. Chevalier, R. Hollerbach, R. Kulsrud, R. Tayler, S. Akiyama, S. Vaĭnshteĭn, S. Vaĭnshteĭn, S. Zane, S. Zane, T. Naito, T. Thompson, U. Geppert, U. Geppert, U. Geppert, U. Geppert, U. Geppert, U. Geppert, U. Geppert, U. Geppert, V. Urpin, V. Urpin, V. Urpin, V. Zavlin, W. Becker, W. Keil   +92 more
core   +2 more sources

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source