Results 101 to 110 of about 98,067 (307)

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Cytogenetics of Legumes in the Phaseoloid Clade

The Plant Genome, 2013
Cytogenetics played an essential role in studies of chromosome structure, behavior, and evolution in numerous plant species. The advent of molecular cytogenetics combined with recent development of genomic resources has ushered in a new era of chromosome
Aiko Iwata, Christopher M. Greenland, Scott A. Jackson   +2 more
doaj   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Correction to: Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

BMC Medical Genomics, 2022
Somprakash Dhangar, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah, Babu Rao Vundinti   +5 more
doaj   +1 more source

The Clinical Utility of Sequence‐Based Genetic Testing for Fetal Edema Following Non‐Diagnostic Microarray Results: A Population‐Based Cohort Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non‐diagnostic microarray result for fetal edema.
Victoria M. Allen, Heleen H. Arts, Erica Schollenberg, Samantha Kinley, Erika Aberg, Jo‐Ann K. Brock   +5 more
wiley   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Impact of Maternal Body Mass Index (BMI) on the Performance of Non‐Invasive Prenatal Testing (NIPT)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance. Method This observational retrospective study evaluated FF,
Kristina Valovicova, Marike Polak, Sophie Ottema, Glenn Huijbregts, Marieke Joosten, Karin E. M. Diderich, Mark Drost, Sandra Heil, Sander Galjaard, Diane Van Opstal, Malgorzata Ilona Srebniak   +10 more
wiley   +1 more source

P343: GENOMIC CHARACTERISATION OF B-OTHER ALL IN UKALL2003 PATIENTS BY NEXT GENERATION SEQUENCING

HemaSphere, 2022
C. Schwab, R. Cranston, S. Ryan, E. Butler, E. Winterman, Z. Hawking, M. Bashton, J. Murray, A. Enshaei, J. Gibson, A. Vora, A. Moorman, C. Harrison   +12 more
doaj   +1 more source

Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]

, 2015
No abstract ...
Ferguson-Smith, Malcolm
core  

Semi‐mechanistic population PK/PD model to aid clinical understanding of myelodysplastic syndromes following treatment with Venetoclax and Azacitidine

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 448-459, March 2025.
Abstract Myelodysplastic syndromes (MDS) represent a group of bone marrow disorders involving cytopenias, hypercellular bone marrow, and dysplastic hematopoietic progenitors. MDS remains a challenge to treat due to the complex interplay between disease‐induced and treatment‐related cytopenias.
Neha Thakre, Corinna Maier, Jiuhong Zha, Benjamin Engelhardt, Johannes E. Wolff, Sven Mensing   +5 more
wiley   +1 more source