Results 71 to 80 of about 47,155 (269)

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

PAR1 Agonists Stimulate APC-Like Endothelial Cytoprotection and Confer Resistance to Thromboinflammatory Injury [PDF]

, 2018
Stimulation of protease-activated receptor 1 (PAR1) on endothelium by activated protein C (APC) is protective in several animal models of disease, and APC has been used clinically in severe sepsis and wound healing.
Aisiku, Omozuanvbo, Ceunynck, Karen De, Chaudhry, Sharjeel A., Dockendorff, Chris, Fitch-Tewfik, Jennifer L., Flaumenhaft, Robert, Higgins, Sarah J., Ingber, Donald E., Jain, Abhishek, Parikh, Samir M., Peters, Christian G.   +10 more
core   +1 more source

Long-term exposure to low ambient air pollution concentrations and mortality among 28 million people: results from seven large European cohorts within the ELAPSE project

The Lancet Planetary Health, 2022
Summary: Background: Long-term exposure to ambient air pollution has been associated with premature mortality, but associations at concentrations lower than current annual limit values are uncertain.
Massimo Stafoggia, PhD, Bente Oftedal, PhD, Jie Chen, PhD, Sophia Rodopoulou, PhD, Matteo Renzi, MSc, Richard W Atkinson, ProfPhD, Mariska Bauwelinck, MSc, Jochem O Klompmaker, PhD, Amar Mehta, PhD, Danielle Vienneau, PhD, Zorana J Andersen, PhD, Tom Bellander, ProfPhD, Jørgen Brandt, ProfPhD, Giulia Cesaroni, MSc, Kees de Hoogh, PhD, Daniela Fecht, PhD, John Gulliver, ProfPhD, Ole Hertel, ProfPhD, Barbara Hoffmann, ProfMD, Ulla A Hvidtfeldt, PhD, Karl-Heinz Jöckel, PhD, Jeanette T Jørgensen, PhD, Klea Katsouyanni, ProfPhD, Matthias Ketzel, ProfPhD, Doris Tove Kristoffersen, PhD, Anton Lager, PhD, Karin Leander, PhD, Shuo Liu, MPH, Petter L S Ljungman, PhD, Gabriele Nagel, ProfMD, Göran Pershagen, ProfPhD, Annette Peters, ProfPhD, Ole Raaschou-Nielsen, ProfPhD, Debora Rizzuto, PhD, Sara Schramm, MD, Per E Schwarze, PhD, Gianluca Severi, PhD, Torben Sigsgaard, Prof, Maciek Strak, PhD, Yvonne T van der Schouw, ProfPhD, Monique Verschuren, ProfPhD, Gudrun Weinmayr, PhD, Kathrin Wolf, PhD, Emanuel Zitt, MD, Evangelia Samoli, PhD, Francesco Forastiere, PhD, Bert Brunekreef, ProfPhD, Gerard Hoek, PhD, Nicole A H Janssen, PhD   +48 more
doaj   +1 more source

Moufang Loops of Odd Orderp12p22···pm2

Journal of Algebra, 1996
AbstractIt has been proven in [F. Leong and A. Rajah,J. Algebra,176(1995), 265–270] that all Moufang loops of odd orderpq2are groups for distinct primespandq. In this paper, we generalize this result to Moufang loops of odd orderp1α1p2α2···pmαmwherepiare distinct primes and αi≤2.
Leong, Fook, Rajah, Andrew
openaire   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Identification of Powdery Mildew Blumeria graminis f. sp. tritici Resistance Genes in Selected Wheat Varieties and Development of Multiplex PCR

Open Chemistry, 2019
The aim of the study was to identify the Pm2, Pm3a, Pm4b and Pm6 genes and to develop multiplex PCR reaction conditions to reduce time and limit analysis costs. The following molecular markers were used for gene identification: Xcfd81, Whs350 and Xgwm205
Tomkowiak Agnieszka, Skowrońska Roksana, Weigt Dorota, Kwiatek Michał, Nawracała Jerzy, Kowalczewski Przemysław Łukasz, Pluta Mateusz   +6 more
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Symbolic dynamics: from the $N$-centre to the $(N+1)$-body problem, a preliminary study

, 2013
We consider a restricted $(N+1)$-body problem, with $N \geq 3$ and homogeneous potentials of degree ...
Soave, Nicola
core   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Strain PM2, a novel methylotrophic fluorescentPseudomonassp. [PDF]

FEMS Microbiology Letters, 2003
A novel bacterial strain, PM2, capable of growing on methanol, was isolated in alkaline conditions from a soil inoculum. This bacterium was characterized at the physiological, biochemical and molecular level. Based on biochemical and molecular data strain PM2 was classified as a novel member of the group of fluorescent pseudomonads.
Catarina C, Pacheco, João F, Passos, Pedro, Moradas-Ferreira, Paolo, De Marco   +3 more
openaire   +3 more sources