Results 81 to 90 of about 22,467,747 (285)

A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

Case Reports in Dentistry, 2014
We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed
Regina Ferreira Rezek, Ana Angélica Rodrigues Abbas, Juliana Forte Mazzeu, Siliana Maria Duarte Miranda, Cibele Velloso-Rodrigues   +4 more
doaj   +1 more source

Variants of unknown significance on chromosomal microarray analysis: parental perspectives [PDF]

Journal of Community Genetics, 2015
Chromosomal microarray is the recommended first-tier genetic test when a child presents with idiopathic developmental delay (DD), intellectual disability (ID), and/or autism spectrum disorder (ASD). Microarray may discover variants of unknown clinical significance (VUS) and been suggested to cause parental stress and anxiety.
Stephanie, Jez, Megan, Martin, Sarah, South, Rena, Vanzo, Erin, Rothwell   +4 more
openaire   +2 more sources

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

TP53 Loss Elevates NF‐κB‐IFN‐β‐MHC‐Ia Signaling to Promote NK Cell Resistance in Osteosarcoma

Advanced Science, EarlyView.
TP53 loss in a transforming or osteosarcoma cell promotes cytosolic DNA accumulation, activating NF‐κB‐dependent IFN‐β production. Autocrine IFN‐β signaling increases cell‐surface HLA‐Ia expression, strengthens inhibitory KIR signaling in natural killer cells, and thereby enables the affected cell to evade NK cell‐mediated cytotoxicity.
Guihui Qin, Cheung Kwan Yeung, Ye Yi, Dejin Zheng, Miaoman Ye, Chi‐Chong Chio, Jinjie Wu, Siyi Fu, Chu‐Xia Deng, Ren‐He Xu   +9 more
wiley   +1 more source

Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report

Molecular Cytogenetics, 2022
Background Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT
Hana Sahinbegovic, Stephanie Andres, Sabine Langer-Freitag, Aspasia Divane, Fotini Ieremiadou, Senad Mehmedbasic, Aida Catic   +6 more
doaj   +1 more source

Improved processing of microarray data using image reconstruction techniques [PDF]

, 2003
Spotted cDNA microarray data analysis suffers from various problems such as noise from a variety of sources, missing data, inconsistency, and, of course, the presence of outliers.
O'Neill, P., Liu, X., Magoulas, George D.   +2 more
core   +1 more source

USP4‐Dependent CHAF1B Stabilization Regulates Distinct SETDB1 Ubiquitin States Linked to AKT T308 Signaling and Lipogenic Remodeling in HCC

Advanced Science, EarlyView.
USP4 stabilizes CHAF1B by limiting K48‐linked ubiquitination. Stabilized CHAF1B supports UHRF1‐associated K63‐linked SETDB1 ubiquitination and cytoplasmic redistribution, whereas CHAF1B loss favors VHL‐dependent K11‐associated degradative ubiquitination and proteasomal loss of SETDB1.
Saiyan Bian, Yun Tong, Wenkai Ni, Zhangzhi Tang, Weiting Chen, Kexin Ma, Lihan Jiang, Jiayu Shao, Xuyang He, Wenjie Zheng   +9 more
wiley   +1 more source

A description of the origins, design and performance of the TRAITS-SGP Atlantic salmon Salmo salar L. cDNA microarray [PDF]

, 2008
The origins, design, fabrication and performance of an Atlantic salmon microarray are described. The microarray comprises 16 950 Atlantic salmon-derived cDNA features, printed in duplicate and mostly sourced from pre-existing expressed sequence tag (EST)
Carmichael, S. N., Carmichael, Stephen N, Teale, Alan J, C. J. Secombes (7674242), Tocher, D. R., Bron, James, Seear, P J, R. Talbot (7674227), Talbot, R, Martin, S. A. M., Villeneuve, L A N, Martin, S A M, Teale, A J, Seear, Paul J, Bron, J. E., Villeneuve, L. A. N., Sweeney, G E, Tocher, D R, D. R. Tocher (7674245), J. E. Bron (3151167), Seear, P. J., S. A. Martin (2499343), S. N. Carmichael (7674230), Høyheim, B., Paul J. Seear (3360119), Villeneuve, Laure, Martin, Sam A M, A. J. Teale (7674248), Secombes, C J, Secombes, C. J., Taggart, J. B., Tocher, Douglas R, Taggart, John, Høyheim, B, Carmichael, S N, Sweeney, Glen E., Sweeney, Glen E, Secombes, Christopher J, Hoyheim, Bjorn, L. A. Villeneuve (7674233), Houlihan, Dominic F, Bron, J E, Houlihan, D. F., B. Høyheim (7674224), J. B. Taggart (7674221), D. F. Houlihan (7674239), Taggart, J B, Talbot, R., G. E. Sweeney (7674236), Talbot, Richard T, Houlihan, D F, Teale, A. J.   +51 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source