Results 141 to 150 of about 109,479 (290)

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation

Frontiers in Genetics
Chromosomes 3 and 8 harbor genes essential for neurodevelopment, skeletal formation, and metabolic regulation. We report a case of two half-siblings with neurodevelopmental delay and intellectual disability who inherited a derivative chromosome 3 from ...
Andrés León, Alex S. Aguirre, Alex S. Aguirre, Anna Lindstrand, Marlene Ek, Vanessa I. Romero   +5 more
doaj   +1 more source

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

PLoS ONE, 2007
BackgroundArray Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis.
Xinyan Lu, Chad A Shaw, Ankita Patel, Jiangzhen Li, M Lance Cooper, William R Wells, Cathy M Sullivan, Trilochan Sahoo, Svetlana A Yatsenko, Carlos A Bacino, Pawel Stankiewicz, Zhishu Ou, A Craig Chinault, Arthur L Beaudet, James R Lupski, Sau W Cheung, Patricia A Ward   +16 more
doaj   +1 more source

Gene silencing and large-scale domain structure of the E. coli genome

, 2012
The H-NS chromosome-organizing protein in E. coli can stabilize genomic DNA loops, and form oligomeric structures connected to repression of gene expression.
Lagomarsino, Marco Cosentino, Sclavi, Bianca, Zarei, Mina   +2 more
core   +2 more sources

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Clinical profile and cytogenetics of siblings with Jacobsen syndrome

Journal of Current Research in Scientific Medicine
The clinical care of patients has greatly benefited from the advancement of genetic testing. Over time, a gradual move toward a “genotype-first” strategy and growing use of genome-wide testing techniques such as chromosomal microarray analysis and next ...
Abinaya Gunalan, Priya Jose, Allen David, Peter Prasanth Kumar Kommu   +3 more
doaj   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +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

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring

Frontiers in Genetics
BackgroundBalanced translocations are common chromosomal structural abnormalities that usually do not involve a gain or loss of genetic material; and carriers usually display normal phenotypes and intelligence.
Jing Zhao, Ping Chen, Yijia Ren, Shurong Li, Weiyi Zhang, Yan Li, Fengyu Wang   +6 more
doaj   +1 more source