Results 131 to 140 of about 225,713 (333)
International Journal of Clinical Practice, 1994 SUMMARYThe contributions of fragile X syndrome to mental retardation have been underestimated. It is the most common form of familial mental retardation and one of the most common genetic diseases. Its long‐term burden upon families and services is considerable.
openaire +2 more sources
eNeuro, 2017 Fragile X syndrome is a genetic condition resulting from FMR1 gene mutation that leads to intellectual disability, autism-like symptoms, and sensory hypersensitivity.
D. Sinclair +11 more
semanticscholar +1 more source
Movement Disorders Clinical Practice, EarlyView.ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source
Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +1 more source
Síndrome frágil X Fragile X Syndrome
Revista Cubana de Investigaciones Biomédicas, 2007 Se efectuó una revisión sobre el síndrome frágil X, del cual en Cuba no existían reportes desde el punto de vista poblacional, hasta la realización del estudio psicopedagógico, social y clínico genético de las personas con retraso mental; mediante el ...
doaj
Fragile x-associated tremor/ataxia syndrome
Journal of the Belgian Society of Radiology, 2012 Background: A 64-year-old male experiences resting and intentional tremor. The complaints aggravated progressively over the last few years and appeared first at the head and later at the upper limbs.
A S Michel, B Claikens
doaj +1 more source
Epigenetics of fragile X syndrome and fragile X‐related disorders
Developmental Medicine & Child Neurology, 2018 The fragile X mental retardation 1 gene (FMR1)‐related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism.
C. Kraan, D. Godler, D. Amor
semanticscholar +1 more source
Refractory Lung Diseases: From Cellular Structures, Molecular Mechanisms to Therapeutic Strategies
Pediatric Discovery, EarlyView.ABSTRACT Refractory lung diseases (RLDs) encompass a spectrum of progressive pulmonary disorders, including acute respiratory distress syndrome (ARDS), bronchopulmonary dysplasia (BPD), and idiopathic pulmonary fibrosis (IPF). These conditions are defined by poor responsiveness to current therapeutic interventions and pose substantial clinical ...
Yiheng Qiu +12 more
wiley +1 more source
Frontiers in Behavioral Neuroscience, 2013 Attentional deficits and executive function impairments are common to many neurodevelopmental disorders of intellectual disability and autism, including Fragile X syndrome.
Ioannis eKramvis +5 more
doaj +1 more source
Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction
PROTEOMICS, EarlyView.ABSTRACT Contact of Corynebacterium diphtheriae with macrophages induces adaptations on both bacterial and cellular sides. The study presented here was aiming to shed light on the simultaneous intracellular adaptation of the bacteria and changes in the proteome of the phagocytes in response to the internalization of C. diphtheriae.
Luca Musella +6 more
wiley +1 more source