Cargando…

Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability

BACKGROUND: Genetic testing has become a standardized practice in the diagnosis of patients with global developmental delay/intellectual disability (GDD/ID). The aim of this study is to observe the frequency of recurrent copy number variations (CNVs) in patients diagnosed with GDD/ID, using MLPA tec...

Descripción completa

Detalles Bibliográficos
Autores principales:	Miclea, Diana, Szucs, Adriana, Mirea, Andreea, Stefan, Delia-Maria, Nazarie, Florina, Bucerzan, Simona, Lazea, Cecilia, Grama, Alina, Pop, Tudor Lucian, Farcas, Marius, Zaharie, Gabriela, Matyas, Melinda, Mager, Monica, Vintan, Mihaela, Popp, Radu, Alkhzouz, Camelia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2021
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378908/ https://www.ncbi.nlm.nih.gov/pubmed/34429637 http://dx.doi.org/10.2147/IJGM.S320033

Ejemplares similares

Skeletal Abnormalities and VDR1 Gene Polymorphisms in Mucopolysaccharidosis Patients
por: Alkhzouz, Camelia, et al.
Publicado: (2021)

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)
por: Bucerzan, Simona, et al.
Publicado: (2017)

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability
por: Miclea, Diana, et al.
Publicado: (2022)

46,XX DSD: Developmental, Clinical and Genetic Aspects
por: Alkhzouz, Camelia, et al.
Publicado: (2021)

Early clinical signs in lysosomal diseases
por: Alkhzouz, Camelia, et al.
Publicado: (2021)

Genetic testing in pediatric endocrine pathology
por: Miclea, Diana, et al.
Publicado: (2021)

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development
por: Miclea, Diana, et al.
Publicado: (2021)

Evaluation of Circulating Chitotriosidase Activity in Children with Obesity
por: Țaranu, Ioana, et al.
Publicado: (2022)

16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
por: Bucerzan, Simona, et al.
Publicado: (2020)

Diagnostic, treatment and outcome possibilities in achondroplasia
por: Bucerzan, Simona, et al.
Publicado: (2021)

Case Report: Potocki-Lupski Syndrome in Five Siblings
por: Grama, Alina, et al.
Publicado: (2021)

Cardiovascular manifestations in Marfan syndrome
por: Lazea, Cecilia, et al.
Publicado: (2021)

Challenges in the diagnosis and management of urea cycle disorders in Romanian children
por: Pop, Tudor Lucian, et al.
Publicado: (2021)

Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita
por: Matyas, Melinda, et al.
Publicado: (2021)

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene
por: Riza, Anca-Lelia, et al.
Publicado: (2022)

Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)
por: Lazea, Cecilia, et al.
Publicado: (2021)

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure (†)
por: Grama, Alina, et al.
Publicado: (2019)

Kocuria varians meningitis in a child with chronic granulomatous disease
por: Grama, Alina, et al.
Publicado: (2021)

An Update on the Effects of Vitamin D on the Immune System and Autoimmune Diseases
por: Sîrbe, Claudia, et al.
Publicado: (2022)

Osteoarthropathy in mucopolysaccharidosis type II
por: NASCU, IOANA, et al.
Publicado: (2013)

Genetic testing in patients with global developmental delay / intellectual disabilities. A review
por: MICLEA, DIANA, et al.
Publicado: (2015)

One Molecule for Mental Nourishment and More: Glucose Transporter Type 1—Biology and Deficiency Syndrome
por: Vulturar, Romana, et al.
Publicado: (2022)

Pathogenesis of Autoimmune Hepatitis—Cellular and Molecular Mechanisms
por: Sirbe, Claudia, et al.
Publicado: (2021)

The Role of Vitamin D and Vitamin D Binding Protein in Chronic Liver Diseases
por: Pop, Tudor Lucian, et al.
Publicado: (2022)

Immune-mediated cholangiopathies in children: the need to better understand the pathophysiology for finding the future possible treatment targets
por: Grama, Alina, et al.
Publicado: (2023)

Acute liver failure with hemolytic anemia in children with Wilson’s disease: Genotype-phenotype correlations?
por: Pop, Tudor Lucian, et al.
Publicado: (2021)

MLPA analysis in a cohort of patients with autism
por: Peixoto, Sara, et al.
Publicado: (2017)

Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences
por: Nygren, Anders O. H., et al.
Publicado: (2005)

Sequencing data and MLPA analysis data in support of the effectiveness and reliability of an asymmetric PCR-Based approach in preparing long MLPA probes
por: Ling, Xingyuan, et al.
Publicado: (2015)

Validation of Normal P-Wave Parameters in a Large Unselected Pediatric Population of North-Western Romania: Results of the CARDIOPED Project
por: Cismaru, Gabriel, et al.
Publicado: (2021)

Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review
por: Lazea, Cecilia, et al.
Publicado: (2022)

Postpartum assessment of fetal inflammatory response syndrome in a preterm population with premature rupture of membranes: A Romanian study
por: Zaharie, Gabriela Corina, et al.
Publicado: (2021)

Prevalence of Underweight, Overweight and Obesity in School-Aged Children in the Urban Area of the Northwestern Part of Romania
por: Pop, Tudor Lucian, et al.
Publicado: (2021)

Rapid screening for chromosomal aneuploidies using array-MLPA
por: Yan, Jing-Bin, et al.
Publicado: (2011)

MLPA for confirmation of array CGH results and determination of inheritance
por: Hills, Alison, et al.
Publicado: (2010)

Identification of gross deletions in FBN1 gene by MLPA
por: Yang, Hang, et al.
Publicado: (2018)

MLPA-Based Analysis of Copy Number Variation in Plant Populations
por: Samelak-Czajka, Anna, et al.
Publicado: (2017)

ProSeeK: A web server for MLPA probe design
por: Pantano, Lorena, et al.
Publicado: (2008)

Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy
por: Verma, Prashant K., et al.
Publicado: (2012)

FISH analysis of PTEN in endometrial carcinoma. comparison with SNP arrays and MLPA
por: Maiques, Oscar, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_fsl5njosuhqo6aoicl4f821dfg