Results 241 to 250 of about 23,313,531 (341)

Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age. [PDF]

J Clin Lab Anal
Liu C, Lu Y, Zhang B, Yu L, He J, Ji Y.
europepmc   +1 more source

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, EarlyView.
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

A Survey on Different Feature Selection Methods for Microarray Data Analysis

, 2013
Varuna Tyagi, Anju Mishra
openalex   +1 more source

Neuroprotective Mechanisms of Ciliary Neurotrophic Factor in Retinal Ganglion Cells: Insights from Microarray Analysis. [PDF]

Korean J Ophthalmol
Lee S, Choi JO, Hwang A, Kim CY, Lee K.
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Microarray analysis of the effect of dexamethasone on murine cochlear explants

, 2010
Yukihide Maeda, Kunihiro Fukushima, Misato Hirai, Shin Kariya, Richard J. Smith, Kazunori Nishizaki   +5 more
openalex   +1 more source

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

Genetics in Medicine, 2013
S. South, Charles Lee, A. Lamb, A. Higgins, H. Kearney   +4 more
semanticscholar   +1 more source

Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping. [PDF]

J Clin Lab Anal
Xu C, Xiong Y, Wang D, Zhang S, Wu X, Li M.   +5 more
europepmc   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Analysis of differentially expressed genes in early- and late-stage APPsw-transgenic and normal mice using cDNA microarray

, 2007
Seung Jee, Jung Cho, Chuel Kim, Dae Youn Hwang, Sun Bo Shim, Su Seong Lee, Ji Soon Sin, Yang Kim, Jin Young Park, Se Jin Lee, Soo Young Choi, Yong Bae Kim   +11 more
openalex   +2 more sources