Results 151 to 160 of about 54,834 (268)

Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield? [PDF]

Genes (Basel), 2023
Mitrakos A, Kosma K, Makrythanasis P, Tzetis M.   +3 more
europepmc   +1 more source

KMT2A-CBL Fusion Gene Resulting from del(11)(q23.3q23.3) Identified by Chromosome Microarray Analysis - second report in AML [PDF]

, 2020
Temenuzhka Boneva, Elisabeth P. Nacheva
openalex   +1 more source

AB019. Clinical chromosomal microarray analysis in Singapore [PDF]

Annals of Translational Medicine, 2017
Breana Cham, Angeline Lai
openaire   +2 more sources

Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to assess outcomes of fetuses with prenatally detected omphalocele and the frequency of successful vaginal delivery in pregnancies with suspected non‐lethal omphalocele and intended active neonatal management and its impact on neonatal outcome.
H. Heinrich, D. Kunne, J. P. M. Derikx, E. van Leeuwen, I. H. Linskens, E. Pajkrt   +5 more
wiley   +1 more source

OC06.01: Single gene, gene panel and exome sequencing applied in structurally abnormal fetuses with a normal chromosomal microarray analysis [PDF]

, 2019
A. Borrell, Montse Pauta, Alfons Nadal, Gemma Arca, Francisco Braga da Paz, Yoshio Mino, Magdalena Arnal, E. Marimón, Samira Joussef Piña, A. Tubau, Cèlia Bàdenas   +10 more
openalex   +1 more source

Interpreting Discordant Monosomy 3 FISH and Chromosomal Microarray Analysis Results in Uveal Melanoma [PDF]

, 2020
Nicholas Coley, Christopher Long, S Sennik, John Thorson, Jonathan H. Lin   +4 more
openalex   +1 more source

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Following the first French multicenter pilot study (AnDDI‐Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.
Charlène Daval, Nicolas Meunier‐Beillard, Eléonore Viora‐Dupont, Julian Delanne, Aurore Garde, Caroline Racine, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Ange‐Line Bruel, Hana Safraou, Sylvie Odent, Chloé Quélin, Marine Legendre, Sophie Naudion, Médéric Jeanne, Marie‐Line Jacquemont, Agnès Guichet, Camille Saldana, Anne‐Marie Guerrot, Alice Goldenberg, Caroline Guégan, Marie Vincent, Audrey Putoux, Christine Francannet, Constance Wells, Chloé Arthuis, Elodie Alexandre, Thierry Rousseau, Olivia Martz, Emilie Simon, Ornella Magnien, Fanny Bobert, Sophie Bert, Frédéric Coatleven, Fanny Reveyaz, Perrine Moulinié, Christine Binquet, Christel Thauvin‐Robinet, Laurence Faivre   +39 more
wiley   +1 more source

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

Implication of chromosomal microarray analysis prior to in-utero repair of fetal open neural tube defect. [PDF]

Ultrasound Obstet Gynecol, 2023
Zemet R, Krispin E, Johnson RM, Kumar NR, Westerfield LE, Stover S, Mann DG, Castillo J, Castillo HA, Nassr AA, Sanz Cortes M, Donepudi R, Espinoza J, Whitehead WE, Belfort MA, Shamshirsaz AA, Van den Veyver IB.   +16 more
europepmc   +1 more source

Supplementary Figure 5 from Application of SNP Microarrays to the Genome-Wide Analysis of Chromosomal Instability in Premalignant Airway Lesions [PDF]

, 2023
Ichiro Nakachi, Jessica L. Rice, Christopher D. Coldren, Michael G. Edwards, Robert S. Stearman, Steven C. Glidewell, Marileila Varella-Garcia, Wilbur A. Franklin, Robert L. Keith, Marina T. Lewis, Bifeng Gao, Daniel T. Merrick, York E. Miller, Mark W. Geraci   +13 more
openalex   +1 more source