Results 81 to 90 of about 105,581 (338)

COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey [PDF]

, 2021
Eve Emes, Anke Hüls, Nicole Baumer, Mara Dierssen, Shiela Puri, Lauren Russel, Stephanie L. Sherman, André Strydom, Stefania Bargagna, Ana Cláudia Brandão, Alberto C. S. Costa, Brian Chicoine, Sujay Ghosh, Anne‐Sophie Rebillat, Giuseppina Sgandurra, Diletta Valentini, Tilman Rohrer, Johannes Levin, Monica Lakhanpaul   +18 more
openalex   +1 more source

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

EMBO Molecular Medicine, 2013
Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived ...
Youssef Hibaoui, Iwona Grad, A. Letourneau, M. R. Sailani, S. Dahoun, F. Santoni, S. Gimelli, M. Guipponi, M. Pelte, F. Béna, S. Antonarakis, A. Feki   +11 more
semanticscholar   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Prenatal Detection of Fetal Abdominal Cysts: Can We Reassure Future Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to evaluate the perinatal outcome of fetal abdominal cysts based on the timing of prenatal diagnosis and identify prenatal characteristics associated with postnatal surgical intervention. Methods Fetuses with prenatally detected isolated abdominal cysts referred between January 2007 and December 2022 were included ...
H. Heinrich, E. W. M. Grijseels, R. Bakx, R. R. Gorter, E. van den Boogaard, E. van Leeuwen, A. Elvan‐Taşpınar, I. H. Linskens, E. Pajkrt   +8 more
wiley   +1 more source

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

Ultrasonographic diagnosis of trisomy 18: is it practical in the early second trimester? [PDF]

, 1998
Laurence E. Shields, Laura A. Carpenter, Karen Smith, Hanh V. Nghiem   +3 more
openalex   +1 more source

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

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Sultan Qaboos University Medical Journal, 2013
Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no ...
Karen L. Sheath, Roberto L. Mazzaschi, Salim Aftimos, Nerine E. Gregersen, Alice M. George, Donald R. Love   +5 more
doaj  

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source