Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2016.5213
Abstract: Importance There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows. Objective To… read more here.
Keywords: clinical characterization; cngb1; retinitis pigmentosa; retinitis ... See more keywords
Clinical characterization and natural history of chemotherapy‐induced dilated cardiomyopathy
Sign Up to like & getrecommendations! Published in 2022 at "ESC Heart Failure"
DOI: 10.1002/ehf2.14045
Abstract: Chemotherapy‐induced dilated cardiomyopathy (CI‐DCM) is a well‐recognized phenotype of non‐ischemic dilated cardiomyopathy (DCM), characterized by poor outcomes. However, a detailed comparison between idiopathic DCM (iDCM) and CI‐DCM is still lacking. read more here.
Keywords: chemotherapy induced; clinical characterization; induced dilated; dilated cardiomyopathy ... See more keywords
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1289
Abstract: Chromosome 14q11‐q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2‐1(*600635), and PAX9(*167416) and a… read more here.
Keywords: clinical characterization; microdeletion syndrome; region; characterization new ... See more keywords
The clinical characterization of the adult patient with bipolar disorder aimed at personalization of management
Sign Up to like & getrecommendations! Published in 2022 at "World Psychiatry"
DOI: 10.1002/wps.20997
Abstract: Bipolar disorder is heterogeneous in phenomenology, illness trajectory, and response to treatment. Despite evidence for the efficacy of multimodality interventions, the majority of persons affected by this disorder do not achieve and sustain full syndromal… read more here.
Keywords: clinical characterization; characterization adult; bipolar disorder; treatment ... See more keywords
Clinical characterization of children and adolescents with NF1 microdeletions
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04717-0
Abstract: An estimated 5–11% of patients with neurofibromatosis type 1 (NF1) harbour NF1 microdeletions encompassing the NF1 gene and its flanking regions. The purpose of this study was to evaluate the clinical phenotype in children and… read more here.
Keywords: clinical characterization; nf1 microdeletions; characterization children; children adolescents ... See more keywords
Clinical characterization of novel chromosome 22q13 microdeletions.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2016.12.008
Abstract: INTRODUCTION The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard… read more here.
Keywords: clinical characterization; characterization novel; chromosome 22q13; 22q13 microdeletions ... See more keywords
Demographic and clinical characterization of multiple sclerosis in Mexico: The REMEMBer study.
Sign Up to like & getrecommendations! Published in 2020 at "Multiple sclerosis and related disorders"
DOI: 10.1016/j.msard.2020.102575
Abstract: BACKGROUND Multiple sclerosis (MS) is a chronic neurodegenerative disease of the central nervous system with high prevalence in young adults around the world. The vast majority of epidemiological studies and statistics are based on European… read more here.
Keywords: clinical characterization; sclerosis; demographic clinical; study ... See more keywords
Characterization of wound microbes in epidermolysis bullosa: Results from the epidermolysis bullosa clinical characterization and outcomes database
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Dermatology"
DOI: 10.1111/pde.14444
Abstract: Patients with epidermolysis bullosa (EB) require care of wounds that are colonized or infected with bacteria. A subset of EB patients are at risk for squamous cell carcinoma, and bacterial‐host interactions have been considered in… read more here.
Keywords: clinical characterization; outcomes database; characterization outcomes; epidermolysis bullosa ... See more keywords
Clinical characterization of neonatal and pediatric enteroviral infections: an Italian single center study
Sign Up to like & getrecommendations! Published in 2019 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-019-0689-8
Abstract: BackgroundEnteroviruses (EVs) are an important cause of illness, especially in neonates and young infants. Clinical and laboratory findings at different ages, brain imaging, and outcomes have been inadequately investigated.MethodsWe retrospectively investigated EV infections occurring at… read more here.
Keywords: clinical characterization; less days; laboratory findings; characterization neonatal ... See more keywords
Prevalence and clinical characterization of MMR-D/MSI extra-colonic cancers among germline PMS2 mutation carriers.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2020.38.15_suppl.1527
Abstract: 1527Background: PMS2-associated Lynch syndrome (LS) may have a more modest phenotype than that associated with other mismatch repair (MMR) genes (MLH1, MSH2, MSH6, EPCAM). Recent studies suggest li... read more here.
Keywords: clinical characterization; pms2; characterization mmr; mmr msi ... See more keywords
Clinical Characterization and Prognostic Value of TPM4 and Its Correlation with Epithelial–Mesenchymal Transition in Glioma
Sign Up to like & getrecommendations! Published in 2022 at "Brain Sciences"
DOI: 10.3390/brainsci12091120
Abstract: Tropomyosin 4 (TPM4) has been reported as an oncogenic gene across different malignancies. However, the role of TPM4 in glioma remains unclear. This study aimed to determine the clinical characterization and prognostic value of TPM4… read more here.
Keywords: tpm4; clinical characterization; characterization prognostic; correlation ... See more keywords