Results 101 to 110 of about 125,088 (254)
Fragile X Syndrome: detection and intervention in the behavioural phenotype [PDF]
, 2014 Síndrome X Frágil (SXF) constituye la primera causa de discapacidad intelectual de tipo hereditario. Es una de las alteraciones del neurodesarrollo producido por una mutación en el gen FMR1 que provoca la sintetización inadecuada de la proteína FMRP1. La
García-Alonso, María Isabel +1 more
core +1 more source
British Journal of Pharmacology, EarlyView.Abstract Chronic pain, marked by nociceptive sensitization and maladaptive neuroplasticity, affects 30% of the global population with escalating socioeconomic burdens. Epidemiological data show a 2‐3‐fold increase in neuropsychiatric co‐morbidities among individuals with chronic pain, where epigenetic dysregulation serves as a key mechanism linking ...
Kai Zhang +18 more
wiley +1 more source
Characterization of Auditory and Binaural Spatial Hearing in a Fragile X Syndrome Mouse Model
, 2020 Elizabeth A. McCullagh +5 more
openalex +1 more source
Quality of Life in Fragile
, 2022 Danielle Thordarson +4 more
openalex +1 more source
Clinical Practice Patterns in Bone Health Assessment and Management in Endogenous Cushing's Syndrome
Clinical Endocrinology, EarlyView.ABSTRACT Objective Skeletal fragility is a common complication of endogenous Cushing's Syndrome (CS), although specific guidelines for managing bone health are lacking. This study aimed to assess clinicians' current engagement with bone health assessment and management in patients with endogenous CS. Design Retrospective‐cohort design. Patients Seventy‐
Preeshila Behary +10 more
wiley +1 more source
Transactional relationships between maternal requesting and responsivity, adolescent compliance, and task demands in fragile X syndrome [PDF]
, 2023 Heather Fielding-Gebhardt +3 more
openalex +1 more source
Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency
Clinical Genetics, EarlyView.We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou +3 more
wiley +1 more source
The onset of hand stereotypies in fragile X syndrome [PDF]
, 2018 Dajie Zhang +3 more
openalex +1 more source
Clinical Genetics, EarlyView.RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson +11 more
wiley +1 more source
The fragile‐X syndrome: a growing gene causing familial intellectual disability [PDF]
, 1994 L. B. A. De Vries +3 more
openalex +1 more source