Results 151 to 160 of about 10,428 (253)

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Zebrafish as an Anti‐Isogenic Vertebrate Model and What It Reveals About Genetic Background and Reproducibility

BioEssays, Volume 48, Issue 6, June 2026.
Zebrafish illustrates how polygenic sex determination, maternal germline bottlenecks, and a structurally restless genome jointly destabilize deep homozygosity. These interlocking constraints make fully isogenic zebrafish lines effectively unattainable, turning this model into a natural “stress test” for assumptions about genetic background and ...
Álvaro J. Arana, Laura Sánchez
wiley   +1 more source

Spectrum of Chromosomal Abnormalities in Abortus and Medically Terminated Fetal Samples From a Tertiary Care Center in the Sub-Himalayan Region of North India. [PDF]

Cureus
Malhotra R, Jadli M, Bahadur A, Vatsa M, Singh R, Chaturvedi J, Mathuria YP, Jakhar B, Singla M, Chowdhury N.   +9 more
europepmc   +1 more source

Descriptive Epidemiology and Prognosis of Pediatric Acute Leukemia in the Afro‐Descendant Population of the French West Indies and French Guiana

Cancer Medicine, Volume 15, Issue 6, June 2026.
ABSTRACT Introduction The epidemiology of acute leukemia (AL) in children in Afro‐descendant (AD) populations is poorly described, and survival is often considered worse in these populations. The aim of this study is to describe the epidemiology and prognosis of childhood AL in the AD population of the French West Indies/French Guiana (FWI/FG ...
Julie Mascle, Andre Baruchel, Jacqueline Clavel, Arnaud Petit, Claire Dichamp, Benjamin Faivre, Narcisse Elenga, Frederique Delion, Florence Rabian, Estelle Thebaud, Frederic Huet, Anne Notz‐Carrere, Isabelle Pellier, Benoit Brethon, Katell Michaux, Jean‐Hugues Dalle, Arthur Felix   +16 more
wiley   +1 more source

Karyotype evolution of multiple myeloma. [PDF]

J Clin Exp Hematop
Matsumoto Y, Ichimura T, Harukawa J, Fujioka K, Suzuki H, Nonaka K, Muramatsu A, Sugitani M, Kobayashi T, Iwai T, Uchiyama H.   +10 more
europepmc   +1 more source

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian, Qi Zhao, Yanfang Li, Lihua Li, Zhongwei Li, Miaolian Zhang, Suihua Feng, Qiang Zhao   +7 more
wiley   +1 more source

Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings. [PDF]

Arch Gynecol Obstet
Liang Y, Zhou R, Liu T, Gao J, Xu Y, Huang M, Meng L, Huo H, Zhang Q, Wu Y, Xu Z, Wang Y.   +11 more
europepmc   +1 more source

Familial p.(Ala73Thr) Variant in GNB2 Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Pathogenic variants in GNB2 have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features.
Megan Glassford, Caroline Jennings, Anne Slavotinek   +2 more
wiley   +1 more source

Primary Tumor‐Associated Loss of the Y Chromosome and Clinical Outcome in Metastatic Colorectal Cancer

Genes, Chromosomes and Cancer, Volume 65, Issue 6, June 2026.
ABSTRACT Background Alterations of the Y chromosome are frequent events in solid tumors, yet their biological and clinical significance remains incompletely understood. In colorectal cancer (CRC), recent studies have suggested context‐dependent roles of Y‐linked genes in tumor progression, while the impact of tumor‐associated loss of the Y chromosome ...
Anaëlle Isnard, Marie Decraecker, Benjamin Fernandez, Denis Smith, Pierre Dubus, Sandrine Dabernat, Olivier Mansier, Samuel Amintas   +7 more
wiley   +1 more source

Genetic counselors' perspectives on the expanded use of non-invasive prenatal testing. [PDF]

J Community Genet
Levkova M, Yaneva A.
europepmc   +1 more source