Results 111 to 120 of about 113,215 (275)

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

An Additional Report of a Female With a Complex XY Translocation Is Presented Who Has Successfully Completed a Pregnancy With Significant Y Chromosome Material Gain and Partial X Deletion

American Journal of Medical Genetics Part A, EarlyView.
John Coleman, Nicola Walsh, Deborah M. Lambert, Andrew Green, Sally Ann Lynch   +4 more
wiley   +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

Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions [PDF]

, 2018
Shen Gu, Madison Jernegan, Ignatia B. Van den Veyver, Sandra Peacock, Janice Smith, Amy M. Breman   +5 more
openalex   +1 more source

A Genome-Wide Analysis Reveals Significant Overlap of Transcription and DNA Repair in Stationary Phase Yeast [PDF]

, 2008
The association between transcription and DNA repair is acknowledged as a player in the generation of mutations in a non-random fashion in prokaryotes and eukaryotes.
Abraham Korol, Aviv de Morgan, Eviatar Nevo, Leonid Brodsky, Yechezkel Kashi, Yefim Ronin   +5 more
core   +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

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis [PDF]

, 2011
Lluı́s Armengol, Julián Nevado, Clara Serra‐Juhé, Alberto Plaja, C. Mediano, Fe Amalia García‐Santiago, Manel García‐Aragonés, Olaya Villa, Elena Mansilla, Cristina Preciado, Luís Fernández, María Ángeles Mori, Lidia García‐Pérez, Pablo Lapunzina, Luis A. Pérez‐Jurado   +14 more
openalex   +1 more source

Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report [PDF]

, 2021
Eun-Woo Park, Ye Jee Shim, Jung‐Sook Ha, Jin‐Hong Shin, Soyoung Lee, Jang Hyuk Cho   +5 more
openalex   +1 more source

Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow, Elizabeth Butler, Melanie P. Napier, Lindsay Havens‐Dyer, Annabelle Tuttle, Patricia C. Lopes, Britt A. Johnson, Paul Kruszka, Kirsty McWalter   +8 more
wiley   +1 more source