Results 91 to 100 of about 179,045 (295)
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
Report of the sensor readout electronics panel [PDF]
, 1991 The findings of the Sensor Readout Electronics Panel are summarized in regard to technology assessment and recommended development plans. In addition to two specific readout issues, cryogenic readouts and sub-electron noise, the panel considered three ...
Carson, J. +8 more
core +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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes.
Marcella Zollino +7 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi +11 more
wiley +1 more source
ReportsBackground and Clinical Significance: The 45,X0/46,XY mosaic karyotype is categorized as a disorder of sex development and can lead to atypical sexual development.
Mariola Krzyścin +4 more
doaj +1 more source
A MOSAIC of methods: Improving ortholog detection through integration of algorithmic diversity
, 2014 Ortholog detection (OD) is a critical step for comparative genomic analysis of protein-coding sequences. In this paper, we begin with a comprehensive comparison of four popular, methodologically diverse OD methods: MultiParanoid, Blat, Multiz, and OMA ...
Hernandez, Ryan D., Maher, M. Cyrus
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
Post-merger Signatures of Red-sequence Galaxies in Rich Abell Clusters at $z\lesssim 0.1$
, 2012 We have investigated the post-merger signatures of red-sequence galaxies in rich Abell clusters at $z \lesssim$ 0.1: A119, A2670, A3330 and A389. Deep images in u', g', r' and medium-resolution galaxy spectra were taken using MOSAIC 2 CCD and Hydra MOS ...
Bell +22 more
core +1 more source