Results 151 to 160 of about 13,467,690 (274)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Gas Chromatography Chemometrics of Volatile Analytes in Mexican Mezcals: Fingerprinting Ancestral and Artisanal Manufacturing Processes, Geographical Origins, and Agave Species. [PDF]

Foods
López-Aguilar R, Hernández-Núñez E, Giácoman-Vallejos G, González-Sánchez A, Hernández-Montes A, Herbert-Pucheta JE.   +5 more
europepmc   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

An Archaic Reference-Free Method to Jointly Infer Neanderthal and Denisovan Introgressed Segments in Modern Human Genomes. [PDF]

Mol Biol Evol
Planche L, Ilina A, Ávila-Arcos MC, Jay F, Huerta-Sanchez E, Shchur V.   +5 more
europepmc   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

TS-IBD: An efficient ancestral recombination graph-based identity by descent segment detection method. [PDF]

Hum Popul Genet Genom
Wei Y, Sanaullah A, Zhi D, Zhang S.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Structural Centrality Versus Inferred Ancestral State: Unraveling Hidden Heterogeneity in Large HIV Molecular Clusters. [PDF]

Viruses
Lai L, Luo Y, Li S, Song Y, Wu H, Cai Y, Tian Z, Yi Y, Yao Z, Yan H, Han Z, Liu Y.   +11 more
europepmc   +1 more source

Participatory Policy Development: Reflections on Designing the Strong Roots for Our Futures Program in Victoria

Australian Journal of Social Issues, EarlyView.
ABSTRACT In this paper, we trace the journey to create the Strong Roots for our Futures Program, a government program to resource and support Traditional Owners to undertake a range of activities in areas where no state recognition existed. We provide a background to state recognition in Victoria before considering the program design, leading to an ...
Nell Reidy, Bhiamie Williamson, Jesse Williams   +2 more
wiley   +1 more source

Evaluation of Molecular Phylogenetic Trees by an Information-Theoretic Metric. [PDF]

J Mol Evol
Nishimaki T, Sato K.
europepmc   +1 more source