Cargando…

Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

Autism spectrum disorders (ASD) comprise a group of neurodevelopmental disorders (NDD) characterized by deficits in communication and social interaction, as well as repetitive and restrictive behaviors, etc. The genetic implications of ASD have been widely documented, and numerous genes have been as...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sandoval-Talamantes, Ana Karen, Mori, María Ángeles, Santos-Simarro, Fernando, García-Miñaur, Sixto, Mansilla, Elena, Tenorio, Jair Antonio, Peña, Carolina, Adan, Carmen, Fernández-Elvira, María, Rueda, Inmaculada, Lapunzina, Pablo, Nevado, Julián
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137620/ https://www.ncbi.nlm.nih.gov/pubmed/37107578 http://dx.doi.org/10.3390/genes14040820

Ejemplares similares

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
por: Sandoval-Talamantes, Ana Karen, et al.
Publicado: (2023)

Simpson-Golabi-Behmel syndrome types I and II
por: Tenorio, Jair, et al.
Publicado: (2014)

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature
por: Sánchez-Montenegro, Carlos, et al.
Publicado: (2017)

Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome
por: García‐Santiago, Fe Amalia, et al.
Publicado: (2021)

Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships
por: Bel-Fenellós, Cristina, et al.
Publicado: (2023)

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
por: Armengol, Lluís, et al.
Publicado: (2011)

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
por: Nevado, Julián, et al.
Publicado: (2021)

New microdeletion and microduplication syndromes: A comprehensive review
por: Nevado, Julián, et al.
Publicado: (2014)

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier
por: Delicado, Alicia, et al.
Publicado: (2014)

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
por: López, María, et al.
Publicado: (2018)

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1
por: Peces, Ramón, et al.
Publicado: (2023)

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension
por: Gallego, Natalia, et al.
Publicado: (2021)

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
por: Nevado, Julián, et al.
Publicado: (2022)

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus
por: Nieves-Moreno, Maria, et al.
Publicado: (2021)

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
por: Fernández, Luis, et al.
Publicado: (2009)

Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
por: Gallego-Zazo, Natalia, et al.
Publicado: (2022)

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
por: Tenorio-Castaño, Jair, et al.
Publicado: (2021)

Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder
por: Shin, Saeam, et al.
Publicado: (2015)

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report
por: Peces, Ramón, et al.
Publicado: (2019)

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder
por: Cucinotta, Francesca, et al.
Publicado: (2023)

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients
por: Pérez‐Grijalba, Virginia, et al.
Publicado: (2019)

Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
por: Ho, Karen S., et al.
Publicado: (2016)

Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension
por: Pienkos, Shaun, et al.
Publicado: (2021)

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
por: Parra, Alejandro, et al.
Publicado: (2023)

Outcome of ABCA4 microarray screening in routine clinical practice
por: Ernest, Paul J.G., et al.
Publicado: (2009)

Chromosomal microarray and whole‐exome sequence analysis in Taiwanese patients with autism spectrum disorder
por: Chang, Ya‐Sian, et al.
Publicado: (2019)

A Six-attribute Classification of Genetic Mosaicism
por: Martínez-Glez, Víctor, et al.
Publicado: (2020)

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
por: Cardoso, Leila Cabral de Almeida, et al.
Publicado: (2022)

Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients
por: Cardoso, Leila C.A., et al.
Publicado: (2012)

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study
por: Calderoni, Sara, et al.
Publicado: (2020)

Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan
por: Peces, Ramón, et al.
Publicado: (2021)

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
por: Lago-Docampo, Mauro, et al.
Publicado: (2020)

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations
por: Santurtún, Maite, et al.
Publicado: (2022)

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice
por: van Huet, Ramon A. C., et al.
Publicado: (2015)

Comprehensive Intervention and Effect of Martial Arts Routines on Children with Autism
por: Li, Li, et al.
Publicado: (2022)

Risk Factors for Depression in Children and Adolescents with High Functioning Autism Spectrum Disorders
por: De-la-Iglesia, Myriam, et al.
Publicado: (2015)

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation
por: Candelo, Estephania, et al.
Publicado: (2021)

Informatics Enhanced SNP Microarray Analysis of 30 Miscarriage Samples Compared to Routine Cytogenetics
por: Lathi, Ruth B., et al.
Publicado: (2012)

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome
por: Popp, Bernt, et al.
Publicado: (2022)

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort
por: Chong, Wilson Wai Sing, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_fvr4fetvamhv7mjvm9s1ftj0dk