Results 51 to 60 of about 6,518,305 (275)

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

Certain integrals associated with the generalized Bessel-Maitland function [PDF]

, 2017
The aim of this paper is to establish two general finite integral formulas involving the generalized Bessel-Maitland functions Jμ,γν,q (z). The result given in terms of generalized (Wright’s) hypergeometric functions pΨq and generalized hypergeometric ...
Amsalu, Hafte, Suthar, D. L.
core   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

On Novel Fractional Integral and Differential Operators and Their Properties

Journal of Mathematics, 2023
The main goal of this paper is to describe the new version of extended Bessel–Maitland function and discuss its special cases. Then, using the aforementioned function as their kernels, we develop the generalized fractional integral and differential ...
Shahid Mubeen, Rana Safdar Ali, Yasser Elmasry, Ebenezer Bonyah, Artion Kashuri, Gauhar Rahman, Çetin Yildiz   +6 more
doaj   +1 more source

The evolution of moment generating functions for the Wright-Fisher model of population genetics [PDF]

Mathematical Biosciences, 2014
We derive and apply a partial differential equation for the moment generating function of the Wright-Fisher model of population genetics.
Tat Dat Tran, Julian Hofrichter, Jürgen Jost   +2 more
openaire   +4 more sources

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos, Natasha Monte, Kaio Evandro Cardoso Aguiar, Rita de Cássia Calderaro, Aline Pasquini Santos, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐Dos‐Santos, Sandro José De Souza, Ândrea Ribeiro‐Dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista Dos Santos, Ney Pereira Carneiro Dos Santos   +11 more
wiley   +1 more source

Exploring Genetic and Biological Interconnections Between Neuroticism, Psychological Distress, Insomnia, and C‐Reactive Protein: Insights From the UK Biobank

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychobehavioral and physical health traits often co‐occur. Although previous studies have identified associations between neuroticism, psychological distress, insomnia, and inflammatory biomarkers such as C‐reactive protein (CRP), it remains unclear whether there is a genetic basis to these associations, and which biological pathways are ...
Lydia M Li, Nina Adler, Cristina L. Abbatangelo, Mark Wade, Esteban J. Parra   +4 more
wiley   +1 more source

Generalized Additive Models with Unknown Link Function Including Variable Selection [PDF]

, 2013
The generalized additive model is a well established and strong tool that allows to model smooth effects of predictors on the response. However, if the link function, which is typically chosen as the canonical link, is misspecified, substantial bias is ...
Gerhard Tutz, Petry, Sebastian, Tutz, Gerhard, Sebastian Petry   +3 more
core   +1 more source

Caputo Type Fractional Differentiation for the Extended Generalized Mittag-Leffler Function

, 2023
The goal of this paper is to develop some differential equation formulas for the extended generalized Mittag-Leffler function (EGMLF) using Caputo type Marichev-Saigo-Maeda (MSM) fractional derivative operators involving the third Appell function as ...
UÇAR, FARUK
core   +1 more source

Caregiver Reports on the Needs and Experiences of Children Impacted by Parental Incarceration: Results From an Australian Survey

Australian Journal of Social Issues, EarlyView.
ABSTRACT Children experiencing parental imprisonment are known to be among the most overlooked in our community. They often experience multiple and compounding disadvantages, with long‐term consequences, but receive no specialised assistance. Knowledge about these children and their families is lacking in Australia and is required to inform policy ...
Catherine Flynn, Lana Battaglia, Lorana Bartels, Susan Dennison, Susy Harrigan, Lee Huggins, Sofia Grage‐Moore   +6 more
wiley   +1 more source