Results 221 to 230 of about 114,077 (305)

Copy Number Variant Duplications Associated with Essential Tremor. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Medeiros M, Liao C, Dilliott AA, Ross JP, Vuokila V, Aboasali F, Castonguay CE, Spiegelman D, Hopfner F, Vilariño-Güell C, García-Martín E, Alonso-Navarro H, Agúndez JAG, Jiménez-Jiménez FJ, Pastor P, Rajput A, Rajput A, Deuschl G, Kuhlenbäumer G, Girard SL, Farhan SMK, Dion PA, Rouleau GA.   +22 more
europepmc   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Metabolic reprogramming-associated genomic instability drives colorectal cancer progression via the UBXN1-NF-κB axis. [PDF]

Am J Transl Res
Qian L, Li Z, Yang T, Xia S, Jin L, Zhu C, Jing W, Wang Y, Ye Y, Shen Y, Li L, Peng H, Yu Q.   +12 more
europepmc   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Association mapping of wheat distinctness, uniformity, and stability traits identifies evidence of <i>TaDof-B</i> copy number variation associated with stem pith thickness. [PDF]

Front Plant Sci
Love B, Bansept-Basler P, Barber T, Bedford JA, Berry S, Bird N, Borum F, Brown J, Bryant R, Chia T, Connell J, Fenwick P, Feuerhelm D, Flatman E, Gosman N, Hayes C, Henriksson T, Jack P, Kerton M, Lage J, McMillan V, Nielsen LK, Percival-Alwyn L, Schondelmaier J, Sharma R, Smith S, Tailby P, Vallenback P, Wallace M, Warner D, Wright TIC, Yang CJ, Zanella CM, Gardner KA, Mackay IJ, O'Sullivan DM, Cockram J.   +36 more
europepmc   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1222-1230, June 2026.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Choroidal Neovascularization and Extensive Macular Atrophy With Pseudodrusen: a Retrospective Comparative Case Series. [PDF]

J Vitreoretin Dis
Hilgert CR, Berton VF, Dos Santos ML, Nanni R, Maia de Carvalho AC, Barreto Melo G.   +5 more
europepmc   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1286-1305, June 2026.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Diagnostic value of mNGS in patients with suspected tumor: An observational study. [PDF]

Medicine (Baltimore)
Zhang H.
europepmc   +1 more source

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