Results 121 to 130 of about 98,141 (333)

Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The American College of Obstetricians and Gynecologists (ACOG) recommends offering spinal muscular atrophy (SMA) carrier screening (CS) preconception or prenatally. This study aimed to determine provider knowledge of SMA and SMA CS practice patterns and to describe the relationship between knowledge and comfort while discussing ...
Melissa Riegel, Whitney Bender, Elizabeth Critchlow, Lorraine Dugoff   +3 more
wiley   +1 more source

Table S1-S6, and Figure S1-S4 from Evolutionary Expression of HER2 Conferred by Chromosome Aneuploidy on Circulating Gastric Cancer Cells Contributes to Developing Targeted and Chemotherapeutic Resistance

, 2023
Yilin Li, Xiaotian Zhang, Dan Liu, Jifang Gong, Daisy Dandan Wang, Shan Li, Zhi Peng, Yanyan Li, Xiaojuan Wang, Peter Ping Lin, Min Li, Lin Shen   +11 more
openalex   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Developmental expression of 4-repeat-Tau induces neuronal aneuploidy in Drosophila tauopathy models [PDF]

, 2017
Tau-mediated neurodegeneration in Alzheimer's disease and tauopathies is generally assumed to start in a normally developed brain. However, several lines of evidence suggest that impaired Tau isoform expression during development could affect mitosis and
Amouyel, Philippe, Bauderlique, Hélène, Bellen, Hugo J, Bongiovanni, Antonino, Callaerts, Patrick, Demiautte, Florie, Dermaut, Bart, Dourlen, Pierre, Dupont, Cloé, Gistelinck, Marc, Lafont, Frank, Lambert, Jean-Charles, Link, Nichole, Malmanche, Nicolas, Moechars, Dieder, Royou, Anne, Vanden Broeck, Lies, Werkmeister, Elisabeth   +17 more
core   +1 more source

Significance of aneuploidy

Journal of British Surgery, 1994
Abstract Aneuploidy is a state of abnormal and highly variable DNA and chromosome content found in both hereditary disorders and human malignancy. For two decades flow cytometry has allowed a wide-ranging survey of aneuploidy in clinicopathological series.
openaire   +2 more sources

Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non‐Isolated Clubfoot?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing. Methods We conducted a retrospective cohort study in the North‐West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 ...
Jana M. de Vries, Arda Arduc, Elisabeth van Leeuwen, Maria B. Tan – Sindhunata, Peter Struijs, Melinda Witbreuk, Ingeborg H. Linskens, Eva Pajkrt   +7 more
wiley   +1 more source

Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]

, 2011
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M, Kohannim, Omid, Peredo, Jane, Quintero-Rivera, Fabiola   +3 more
core   +2 more sources

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source

Non-random Mis-segregation of Human Chromosomes

Cell Reports, 2018
Summary: A common assumption is that human chromosomes carry equal chances of mis-segregation during compromised cell division. Human chromosomes vary in multiple parameters that might generate bias, but technological limitations have precluded a ...
Joseph Thomas Worrall, Naoka Tamura, Alice Mazzagatti, Nadeem Shaikh, Tineke van Lingen, Bjorn Bakker, Diana Carolina Johanna Spierings, Elina Vladimirou, Floris Foijer, Sarah Elizabeth McClelland   +9 more
doaj   +1 more source

EP06.05: Did women's hepatitis B status affect their uptake of invasive prenatal diagnosis after a positive conventional aneuploidy screening? [PDF]

, 2017
A. Mak, H.H. Lee, C. Poon, S. Kwok, Teng Ma, B. Lau, Kwok Leung   +6 more
openalex   +1 more source