Results 191 to 200 of about 142,560 (388)

Karyotyp [PDF]

, 2018
openaire   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source

Evolution of the 2n = 54 karyotype of Domestic sheep (Ovis aries) [PDF]

, 1977
Thomas D. Bunch, W. C. Foote
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

A Comparative Karyotype Analysis in <i>Haplopappus gracilis</i> (2n=4) and <i>H. ravenii</i> (2n=8)

, 1967
Ryuso Tanaka
openalex   +2 more sources

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

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

A Comparative Study of Karyotypes in the Treefrogs (Family Rhacophoridae) from Japan and Taiwan [PDF]

, 1977
Mitsuru Kuramoto
openalex   +1 more source

Bone Marrow Conventional Karyotyping and Fluorescence In Situ Hybridization:  Defining an Effective Utilization Strategy for Evaluation of Myelodysplastic Syndromes.

American Journal of Clinical Pathology, 2016
R. He, A. Wiktor, David K Durnick, Paul J. Kurtin, D. V. Van Dyke, A. Tefferi, M. Patnaik, R. Ketterling, C. Hanson   +8 more
semanticscholar   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source