A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
Syndromic obesity refers to obesity occurring with additional clinical findings, such as
intellectual disability/developmental delay, dysmorphic features, and congenital …
intellectual disability/developmental delay, dysmorphic features, and congenital …
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay
Y Liu, Y Lv, M Zarrei, R Dong, X Yang… - NPJ genomic …, 2022 - nature.com
Copy number variants (CNVs) are recognized as a crucial genetic cause of
neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first …
neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first …
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
A Chirita-Emandi, N Andreescu, C Popa… - Journal of Medical …, 2021 - jmg.bmj.com
Pathogenic variants in BRCA1 gene in heterozygous state are known to be associated with
breast-ovarian cancer susceptibility; however, biallelic variants cause a phenotype …
breast-ovarian cancer susceptibility; however, biallelic variants cause a phenotype …
Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort
The investigation of unexplained global developmental delay (GDD)/intellectual disability
(ID) is challenging. In low resource settings, patients may not follow a standardized …
(ID) is challenging. In low resource settings, patients may not follow a standardized …
[HTML][HTML] Genetic testing in pediatric endocrine pathology
D Miclea, C Alkhzouz, S Bucerzan… - Medicine and …, 2021 - ncbi.nlm.nih.gov
In genetic endocrine diseases, genetic testing is necessary for a precise diagnosis, which
will provide a better knowledge of the evolution and prognosis and also indicate the …
will provide a better knowledge of the evolution and prognosis and also indicate the …
[PDF][PDF] Prevalence and possible complications of pediatric obesity in Romania: A review of recent literature
C Rădulescu, IA Ghiorghiu, DA Plesca - Rom. J. Pediatr, 2020 - rjp.com.ro
Introduction. Excess weight has been recognized as a global health issue for many years. It
is an established risk factor for several chronic conditions, notably cardiovascular disease …
is an established risk factor for several chronic conditions, notably cardiovascular disease …
Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity
SF Madeo, I Stanghellini, B Predieri… - Hormone Research in …, 2021 - karger.com
Abstract Background/Aims: Obesity is a multifactorial disease caused by the interaction of
genetic, environmental, and behavioral factors. Currently, only a small number of obese …
genetic, environmental, and behavioral factors. Currently, only a small number of obese …
The Relationship Between Clinical Phenotypes and Chromosomal Microdeletions/Duplications in Pediatric Neurology
Aim: The aim of this study was to determine the diagnostic utility of chromosomal microarray
analysis (CMA) in daily pediatric neurology practice and to identify the guiding clinical …
analysis (CMA) in daily pediatric neurology practice and to identify the guiding clinical …
[PDF][PDF] Ro-NMCA-ID Group; CExBR Pediatric Neurology Obregia Group; et al. Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and …
MG Cucu, AM Dobrescu - 2022 - pdfs.semanticscholar.org
The investigation of unexplained global developmental delay (GDD)/intellectual disability
(ID) is challenging. In low resource settings, patients may not follow a standardized …
(ID) is challenging. In low resource settings, patients may not follow a standardized …