Results 131 to 140 of about 2,296,312 (307)
Impact of rare diseases in oral health [PDF]
, 2016 Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade ...
Castellanos Cosano, Lizett +3 more
core +2 more sources
Use of Augmentative and Alternative Communication by Individuals with Rett Syndrome Part 1: Page-Linking [PDF]
, 2023 Shawn N. Girtler +4 more
openalex +1 more source
Orphanet Journal of Rare DiseasesBackground Extracorporeal shock wave therapy (ESWT) is reportedly effective for improving spasticity and motor function in children with cerebral palsy (CP). Because late-stage Rett syndrome has a similar presentation, this study aimed to investigate the
Ting-Yu Su +5 more
doaj +1 more source
Finding the GEMSS in Schools. [PDF]
, 2014 Are you the parent of a child who has a genetic condition such as Down syndrome, Fragile X, or Marfan syndrome? Have you searched for a base of knowledge that is comprehensive and reliable?
Dillon, Ann
core +1 more source
Toward the language oscillogenome [PDF]
, 2018 Language has been argued to arise, both ontogenetically and phylogenetically, from specific patterns of brain wiring. We argue that it can further be shown that core features of language processing emerge from particular phasal and cross-frequency ...
Benítez Burraco, Antonio +1 more
core +2 more sources
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
BMC Medical Genetics, 2020 Background More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription.
Carla Caffarelli +6 more
doaj +1 more source
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes [PDF]
, 2011 Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and ...
Alexandra Cabral +48 more
core +2 more sources
American Journal of Human Biology, Volume 38, Issue 2, February 2026.ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi +4 more
wiley +1 more source
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
Clinical Case Reports, 2019 Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome‐like (RTT‐like) phenotype, further confirming the association between EEF1A2 and Rett syndrome RTT and RTT‐like phenotypes.
Simranpreet Kaur +7 more
doaj +1 more source