User profiles for "author:Simone M Karam"

Simone M Karam

Faculdade de Medicina - FURG
Verified email at furg.br
Cited by 453

The contribution of whole-exome sequencing to intellectual disability diagnosis and knowledge of underlying molecular mechanisms: A systematic review and meta …

KY Sanchez-Luquez, MX Carpena, SM Karam… - … Research/Reviews in …, 2022 - Elsevier
Whole-exome sequencing (WES) is useful for molecular diagnosis, family genetic
counseling, and prognosis of intellectual disability (ID). However, ID molecular diagnosis …

Genetic causes of intellectual disability in a birth cohort: A population‐based study

SM Karam, M Riegel, SL Segal, TM Félix… - American Journal of …, 2015 - Wiley Online Library
Intellectual disability affects approximately 1–3% of the population and can be caused by
genetic and environmental factors. Although many studies have investigated the etiology of …

[HTML][HTML] Intellectual disability in a birth cohort: prevalence, etiology, and determinants at the age of 4 years

SM Karam, AJD Barros, A Matijasevich… - Public Health …, 2016 - karger.com
Background: Intellectual disability (ID), characterized by impairments in intellectual function
and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology …

The D-score: a metric for interpreting the early development of infants and toddlers across global settings

AM Weber, M Rubio-Codina, SP Walker… - BMJ global …, 2019 - gh.bmj.com
Introduction Early childhood development can be described by an underlying latent
construct. Global comparisons of children's development are hindered by the lack of a …

Evaluation of genomic factors and early childhood stimulation on intelligence in children from a Brazilian birth cohort: The primary role of independent factors

KY Sánchez-Luquez, MX Carpena, SM Karam… - Progress in Neuro …, 2024 - Elsevier
Background Childhood cognitive abilities are a predictor of health outcomes and adult
income potential. Identifying factors associated with childhood intelligence and their …

[HTML][HTML] Cockayne syndrome: Report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation

SM Karam, JC Costa, L Jardim, RF Pires… - … and Molecular Biology, 2000 - SciELO Brasil
Cockayne syndrome (CS) is an autosomal recessive disorder characterized by dwarfism,
growth deficiency, neurological deterioration, skin photosensitivity and a characteristic …

[HTML][HTML] Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil

CR Vargas, AG Barschak, DM Coelho… - … and Molecular Biology, 2000 - SciELO Brasil
X-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the peroxisomal
metabolism biochemically characterized by the accumulation of very long chain fatty acids …

CHILD DEVELOPMENT AND BEHAVIOR: A PEDIATRIC PERCEPTION

R Halpern, SM Karam, EF Mullinary… - Revista Brasileira de …, 2020 - SciELO Brasil
Foram entrevistados os pediatras que exerciam clínica na cidade de Pelotas, RS. Em 1994,
o conhecimento sobre questões relativas ao desenvolvimento e comportamento infantil e …

[HTML][HTML] Desenvolvimento e comportamento infantil: uma visão dos pediatras

R Halpern, SM Karam, EF Mullinary… - Revista Brasileira de …, 2020 - SciELO Brasil
Foram entrevistados os pediatras que exerciam clínica na cidade de Pelotas, RS. Em 1994,
o conhecimento sobre questões relativas ao desenvolvimento e comportamento infantil e …