Results 101 to 110 of about 81,827 (263)

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Upregulation of long noncoding RNA MIAT in aggressive form of chronic lymphocytic leukemias. [PDF]

, 2016
Long noncoding RNAs (lncRNAs) are non-proten-coding transcripts of more than 200 nucleotides generated by RNA polymerase II and their expressions are tightly regulated in cell type specific- and/or cellular differential stage specific- manner.
Croce, Carlo M, Kipps, Thomas J, Moshiri, Farzaneh, Nakamura, Tatsuya, Ngankeu, Apollinaire, Sattari, Arash, Siddiqui, Hasan   +6 more
core   +2 more sources

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma

Frontiers in Medicine
BackgroundKaryotyping is the standard confirmatory test for identifying chromosomal abnormalities, such as Trisomy 21, which requires amniotic fluid from pregnant women.
Tridiv Katiyar, Medha Srivastava, Suman Mishra, Swasti Tiwari, Shubha Phadke   +4 more
doaj   +1 more source

Inv21p12q22del21q22 and intellectual disability [PDF]

, 2012
Chromosomal rearrangements are common in humans. Pericentric inversions are among the most frequent aberrations (1-2%). Most inversions are balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes ...
Almeida, C, Barros, A, Carreira, IM, Dória, S, Lima, V, Madureira, C, Matoso, E, Moura, CP, Oliveira, R, Pinho, MJ, Ramalho, C   +10 more
core  

Probiotic-associated aspiration pneumonia due to Lactobacillus rhamnosus [PDF]

, 2014
Lactobacilli are low-virulence, commensal organisms of the gastrointestinal and genitourinary tracts and are commonly used as “probiotic supplements.” Herein, we describe an episode of respiratory syncytial virus (RSV) bronchiolitis with bacterial ...
Abgrall, Bloemers, C. D. Doern, C.-A. D. Burnham, Chiba, Clinical and Laboratory Standards Institute, Darbro, De Groote, Didari, El Feghaly, F. Afolabi, Fritz, Fruchart, Gouriet, Honeycutt, Jones, Kochan, Kunz, Land, Ledoux, Luong, Luoto, Mackay, Mehta, Morrow, Namnyak, Querol, Rahman, Rautio, Rogasi, S. T. Nguyen, Salminen, Sriskandan, Tena, Vahabnezhad, Whelan, Wood, Zachariah   +37 more
core   +2 more sources

First‐Trimester Down Syndrome Screening in Renal‐Transplanted Pregnant Women: Blood Creatinine Levels Impact False‐Positive Rate

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Over the past few decades, several thousand pregnancies following kidney transplantation have been monitored but few studies have reported on first‐trimester Down syndrome screening. This study aimed to assess the performance of such screening and its relationship with renal function.
Clément Burgy, Lisa Chanourdie, Béatrice Guyard‐Boileau, Anne‐Laure Hebral, Annelise Genoux, Marie‐Sophie Combis, Paul Guerby, Christophe Vayssiere, Safouane M. Hamdi   +8 more
wiley   +1 more source

Umbilical cord diameter at early second trimester: Relation to trisomy 21

International Journal of Preventive Medicine, 2019
Background: To compare the umbilical cord diameter (UCD) at early second trimester (at 17–19 weeks of gestation) in trisomy 21 and normal fetuses and determined value of measuring UCD in screening trisomy 21. Methods: This was a case–control study.
Sedigheh Hantoushzadeh, Sedigheh Borna, Soghra Khazardoost, Asieh Jafari, Marzieh Talebian   +4 more
doaj   +1 more source

Impact of Maternal Body Mass Index (BMI) on the Performance of Non‐Invasive Prenatal Testing (NIPT)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance. Method This observational retrospective study evaluated FF,
Kristina Valovicova, Marike Polak, Sophie Ottema, Glenn Huijbregts, Marieke Joosten, Karin E. M. Diderich, Mark Drost, Sandra Heil, Sander Galjaard, Diane Van Opstal, Malgorzata Ilona Srebniak   +10 more
wiley   +1 more source

Dedicated First‐Trimester Anomaly Scan in a National Prenatal Screening Program and Timing of Diagnosis: The Prospective IMITAS Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To determine the diagnostic yield of a nationally implemented first‐trimester anomaly scan (FTAS), compared to standard obstetric care with a second‐trimester anomaly scan. Design Prospective observational cohort study. Setting Nationwide prenatal screening program in the Netherlands.
Kim Bronsgeest, Eline E. R. Lust, Lidewij Henneman, Neeltje Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Nan van Geloven, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Elisabeth van Leeuwen, Gwendolyn T. R. Manten, Eva Pajkrt, Mireille N. Bekker, Monique C. Haak, the IMITAS study group, Eline S. van den Akker, Marcel van Alphen, Jelle H. Baalman, Babette A. M. Braams‐Lisman, Addy P. Drogtrop, Katja de Graaff, Anjoke J. M. Huisjes, Marloes E. van Huizen, Piet Hummel, Els A. P. de Jong, Ineke Krabbendam, Simone Lunshof, Marinka S. Post, Robbert J. P. Rijnders, Eva Stekkinger, Floortje Vlemmix, Tatjana Vogelvang, Karlijn C. Vollebregt, Sabina de Weerd, Lia Wijnberger, Wim J. van Wijngaarden   +38 more
wiley   +1 more source