Results 151 to 160 of about 110,198 (324)

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, Volume 109, Issue 3, Page 581-585, March 2026.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source

A case of partial 14 trisomy, 47, XX,+der(14), t(9p+;14q−) [PDF]

, 1982
Hanako Tada, Tamiko Shinohara, Hisatoshi Miyata   +2 more
openalex   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Percutaneous right ventricle outflow tract stenting in a patient with trisomy 18 associated with double outlet right ventricle

, 2013
Erkut Öztürk, Ender Ödemiş, Neslihan Kıplapınar   +2 more
openalex   +2 more sources

DISTINGUISHING MITOTIC AND MEIOTIC ORIGIN OF TRISOMY IN TROPHECTODERM BIOPSIES WITHOUT PARENTAL DNA [PDF]

, 2023
Bhavini Rana, Erik Widén, Diego Marín, Jia Xu, Nathan R. Treff   +4 more
openalex   +1 more source

Preventing Differentiation Towards Primitive Macrophages in Stem Cells With Down Syndrome

Immunology, Volume 177, Issue 3, Page 596-612, March 2026.
Decreased fetal brain macrophages were previously reported in Ts1Cje mice, a model of Down syndrome (DS). We confirmed the reduction in primitive macrophages, brain macrophage precursors, using Ts1Cje‐derived mouse embryonic stem cells (Ts1Cje‐mESCs) and human induced pluripotent stem cells with trisomy 21 (Tri21‐hiPSCs), with in vivo validation ...
Koki Harada, Keiichi Ishihara, Sayaka Wakayama, Teruhiko Wakayama, Sae Yamamoto, Haruhiko Sago, Shun Shimohama, Satoshi Akiba, Florent Ginhoux, Kazuyuki Takata   +9 more
wiley   +1 more source

Non-Invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-Based Approach

, 2014
Megan P. Hall, Matthew D. Hill, Bernhard Zimmermann, Styrmir Sigurjonsson, Margaret Westemeyer, Jennifer Saucier, Zachary Demko, Matthew Rabinowitz   +7 more
openalex   +2 more sources

Molecular and Clinicopathologic Characterization of AML With Isolated Trisomy 4 [PDF]

, 2012
Ashish Bains, Gary Lu, Hui Yao, R. Luthra, L. Jeffrey Medeiros, Rachel L. Sargent   +5 more
openalex   +1 more source

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark, Alexander Renwick, Yao Yu, Aniko Sabo, Andrew F. Olshan, Sharon E. Plon, Chad D. Huff, Philip J. Lupo   +7 more
wiley   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source