Results 121 to 130 of about 54,834 (268)

Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis

Iranian Journal of Public Health
Background: We aimed to compare the difference of the chromosomal abnormalities using karyotype analysis and chromosomal microarray (CMA) as well as to evaluate their application in different prenatal diagnosis indications. Methods: Overall, 3007 pregnant women with prenatal diagnosis indications from Medical Genetics Department of Linyi Women and ...
Li, Huafeng, Li, Yongli, Zhang, Yanli, Zhu, Jinping, Huang, Yuqiang   +4 more
openaire   +2 more sources

New cell lines expanding the diversity of Ewing sarcoma models

International Journal of Cancer, EarlyView.
What's New? A chromosomal translocation between the EWSR1 and ETS genes is the key oncogenic driver in Ewing sarcoma. EWSR1::FLI1, the most frequent fusion, is subdivided into different fusion types with unclear prognostic relevance. Here, the authors describe the establishment and characterization of four new, intrinsically immortal, patient‐derived ...
Maximilian Kerkhoff, Christiane Schaefer, Wilhelm G. Dirks, Dawid Krzeciesa, Maximilian Bretschneider, Pauline R. Plaumann, Wiebke K. Guder, Arne Streitbürger, Sonja Herter, Heike Peterziel, Ina Oehme, Felina Zahnow, Thomas G. P. Grünewald, Uta Dirksen   +13 more
wiley   +1 more source

High-resolution chromosomal microarray analysis of early-stage human embryonic stem cells reveals an association between X chromosome instability and skewed X inactivation [PDF]

, 2014
Yumei Luo, Jieliang Li, Detu Zhu, Yong Fan, Shaoying Li, Xiaofang Sun   +5 more
openalex   +1 more source

Porto‐sinusoidal vascular disorder in a pediatric patient with prolidase deficiency: A case report

JPGN Reports, EarlyView.
Abstract Prolidase deficiency (PD) is a rare autosomal recessive disorder affecting collagen turnover, leading to diverse clinical manifestations including dermatologic lesions, hepatosplenomegaly, and vascular anomalies. Liver involvement in PD is poorly understood, with few reported cases.
Melissa Castro, Christian Martinez, Carole Brathwaite, Reuven Bromberg, Ana M. Rodriguez, Erick Hernandez   +5 more
wiley   +1 more source

Mothers' appreciation of chromosomal microarray analysis for autism spectrum disorder [PDF]

, 2015
Ellen Giarelli, Marian Reiff
openalex   +1 more source

Fetal Tricuspid Annular Plane Systolic Excursion in the Surveillance of Intra‐Abdominal Umbilical Vein Varix

Journal of Ultrasound in Medicine, EarlyView.
Objective To describe the application of tricuspid annular plane systolic excursion (TAPSE) in monitoring cardiac function in cases of fetal intra‐abdominal umbilical vein varix (FIUVV). Methods The sample consisted of all cases of FIUVV diagnosed in a tertiary medical center between 2018 and 2023 that were assessed by sonographic fetal TAPSE.
Yossi Geron, Lior Drukker, Sharon Perlman, Ran Matot, Victoria Hermann, Natav Hendin, Ron Bardin, Yinon Gilboa, Ron Charach   +8 more
wiley   +1 more source

Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders [PDF]

, 2016
Karen S. Ho, E. Robert Wassman, Adrianne L. Baxter, Charles H. Hensel, Megan Martin, Aparna Prasad, Hope Twede, Rena Vanzo, Merlin G. Butler   +8 more
openalex   +1 more source

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes [PDF]

, 2021
Mohamed H. Al‐Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha Alnemer, Nada Alsahan, Maisoon Almugbel, Rafiullah Rafiullah, Mirna Assoum, Zuhair Rahbeeni, Nada Derar, Fahad Hakami, Gawaher Almutairi, Afaf AlOtaibi, Wafaa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, Bashayer Saeed, Hanifa Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, Hadeel Elbardisy, Asma Akilan, Nora Almuhana, Abrar AlKhalifah, Khushnooda Ramzan, John A. Sayer, Faiqa Imtiaz   +30 more
openalex   +1 more source

The Clinical Significance of Fetal Intra‐Abdominal Umbilical Vein Varix A Comparative Study

Journal of Ultrasound in Medicine, EarlyView.
Objectives To clarify the clinical significance and optimal management of fetal intra‐abdominal umbilical vein varix (FIUVV). Methods A retrospective study comparing composite asphyxia‐related adverse outcomes including stillbirth, cesarean delivery due to non‐reassuring fetal heart rate (CD NRFHR), Apgar <7, Cord pH <7, neonatal intensive care unit ...
Keren Zloto, Ariella Wiener, Natalie Bibar, Raanan Meyer, Abeer Massarwa, Michal Fishel Bartal, Alina Weissmann‐Brenner, Eran Kassif, Tal Weissbach   +8 more
wiley   +1 more source

EP14.40: Abnormal chromosomes 18 on microarray: SNP-array analysis with normal band G karyotype in a severe growth-restricted fetus [PDF]

, 2017
Fabiana Michelsen de Andrade, C.L. Drumond, M.N. Affonso, Andréa De Marcos, Alexandre Rodrigues Caetano, Renata Cristina Gobbi de Oliveira   +5 more
openalex   +1 more source