Results 121 to 130 of about 66,364 (302)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang +6 more
wiley +1 more source
, 2012 Hypotonia in infants and children can be a confusing clinical presentation, which often leads to unnecessary investigations. Stepwise and accurate assessment is very important to reach the correct diagnosis. Although specific treatments are not always available, accurate diagnosis is critical to predict the clinical course, associated manifestations ...
openaire +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe +22 more
wiley +1 more source
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]
, 2019 COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David +20 more
core
Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif +3 more
wiley +1 more source
Fatal Neonatal-onset Glutaric Acidemia Type IIc Masquerading as Neonatal Sepsis: A Case Report
Indian Pediatrics Case ReportsBackground: Glutaric acidemia type II (GA-II) is a rare neonatal metabolic disorder that presents with nonspecific features, often posing a diagnostic challenge.
Aayushi Joshi +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde +12 more
wiley +1 more source
Healthcare in Low-resource SettingsHPDL gene mutations have recently been linked to neurodevelopmental disorders with variable presentations, ranging from mild hereditary spastic paraplegia to severe infantile neurodegeneration.
Abdullah Musallam Alkhalaf +4 more
doaj +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source