Results 251 to 260 of about 109,479 (290)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Some of the next articles are maybe not open access.

Related searches:

The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis

Obstetrics and Gynecology Clinics of North America, 2018
Chromosomal microarray analysis (CMA) identifies microdeletions and duplications undetected on karyotype analysis. Copy number variants (CNVs) occur in 1% to 1.7% of all pregnancies, with clinical implications. All women undergoing invasive testing for routine indications should be offered microarray.
Brynn Levy, Ronald J Wapner
exaly   +3 more sources

Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis

American Journal of Obstetrics and Gynecology, 2023
Emerging studies suggest that whole genome sequencing provides additional diagnostic yield of genomic variants when compared with chromosomal microarray analysis in the etiologic diagnosis of infants and children with suspected genetic diseases. However, the application and evaluation of whole genome sequencing in prenatal diagnosis remain limited.This
Zhengfeng Xu, Mingtao Huang
exaly   +3 more sources

Clinical Utility of Chromosomal Microarray Analysis

Pediatrics, 2012
OBJECTIVE: To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results.
Jay W, Ellison, J Britt, Ravnan, Jill A, Rosenfeld, S Annie, Morton, Nicholas J, Neill, Marc S, Williams, Jodi, Lewis, Beth S, Torchia, Cathryn, Walker, Ryan N, Traylor, Kimberly, Moles, Elizabeth, Miller, Jennifer, Lantz, Caitlin, Valentin, Sara L, Minier, Kimberly, Leiser, Berkley R, Powell, Timothy M, Wilks, Lisa G, Shaffer   +18 more
openaire   +3 more sources

Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience

The Journal of Obstetrics and Gynecology of India, 2021
Karyotyping has been the gold standard for prenatal chromosome analysis. The resolution should be higher by chromosome microarray analysis (CMA). The challenge lies in recognizing benign and pathogenic or clinically significant copy number variations (pCNV) and variations of unknown significance (VOUS).
Meena, Bajaj Lall, Shruti, Agarwal, Preeti, Paliwal, Pushpa, Saviour, Anju, Joshi, Arti, Joshi, Surbhi, Mahajan, Sunita, Bijarnia-Mahay, Ratna, Dua Puri, I C, Verma   +9 more
openaire   +2 more sources

Chromosomal Microarray Analysis and Prenatal Diagnosis

Obstetrical & Gynecological Survey, 2014
Chromosomal microarray analysis (CMA) assesses chromosomal copy number alterations and affords higher resolution when compared with standard karyotype. This review provides the obstetric provider with an update on the technology, use, and controversies concerning CMA utilization in prenatal diagnosis.
Jamie O, Lo, Brian L, Shaffer, Cori D, Feist, Aaron B, Caughey   +3 more
openaire   +2 more sources

Chromosomal microarray analysis in ocular developmental anomalies

Expert Review of Molecular Diagnostics, 2012
Ocular developmental anomalies (ODAs) are structural defects of the eye with vari-ous severities, caused by the disruption of the complex process of ocular morpho-genesis. Although the reported prevalence at birth varies greatly, congenital eye mal-formations are rare; they are estimated to occur in four to six per 10,000 neonates in European ...
Andrée, Delahaye, Eva, Pipiras, Brigitte, Benzacken   +2 more
openaire   +2 more sources

Preparation of Chorionic Villus Samples for Metaphase Chromosome Analysis and Chromosomal Microarray Analysis

Current Protocols in Human Genetics, 2012
AbstractChorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core. They can be prepared for chromosome analysis using a culture method wherein villi are disaggregated by mechanical and enzymatic methods and the resulting cell suspension is used to establish primary cultures. Mesenchymal cells of the villus
Amy, Breman, Ankita, Patel
openaire   +2 more sources

Chromosomal microarray analysis of patients with Duane retraction syndrome

International Ophthalmology, 2018
Duane retraction syndrome (DS) is a rare congenital strabismus with genetic heterogeneity. The genetic causes of DS are not always of monogenic origin; various chromosomal copy number variations (CNVs) have also been reported. The objective of our study was to characterize the CNVs, including gains and losses detected by high-resolution chromosomal ...
Leyla Niyaz, Sengul Tural, Ozlem Eski Yucel, Ertuğrul Can, Nursen Ariturk, Zulfinaz B. Celik, Esra Tekcan, Nurten Kara   +7 more
openaire   +3 more sources