Laura Campello Blasco
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View article: Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy Open
Our findings illustrate that both methodological advances and the analysis of patient samples are required to advance our understanding of complex genetic loci and address critical clinical challenges.
View article: Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy
Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy Open
Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene‐abeparvovec (OA) at 3.5 weeks of life. They had no treatment‐related adverse events, normal acquisition of motor milestones, and normal neurol…
View article: Complex <i>SMN</i> Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
Complex <i>SMN</i> Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy Open
Although hybrid genes have been proposed to be beneficial for patients with SMA, our work revealed great complexity and variability between hybrid structures; therefore, each hybrid structure should be studied independently to determine it…
View article: Long-read sequencing identifies copy-specific markers of<i>SMN</i>gene conversion in spinal muscular atrophy
Long-read sequencing identifies copy-specific markers of<i>SMN</i>gene conversion in spinal muscular atrophy Open
The complex 2 Mb survival motor neuron (SMN) locus on chromosome 5q13, including the spinal muscular atrophy (SMA)-causing gene SMN1 and modifier SMN2 , remains incompletely resolved due to numerous segmental duplications. Variation in SMN…
View article: Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows Open
Genetic testing for SMA diagnosis, newborn screening, and carrier screening has become a significant public health interest worldwide, driven largely by the development of novel and effective molecular therapies for the treatment of spinal…
View article: Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 Open
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1, are known to…
View article: Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium Open
View article: Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome Open
View article: The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy Open
After 26 years of discovery of the determinant survival motor neuron 1 and the modifier survival motor neuron 2 genes (SMN1 and SMN2, respectively), three SMN-dependent specific therapies are already approved by FDA and EMA and, as a conse…
View article: Beyond copy number: A new, rapid, and versatile method for sequencing the entire <i>SMN2</i> gene in SMA patients
Beyond copy number: A new, rapid, and versatile method for sequencing the entire <i>SMN2</i> gene in SMA patients Open
Spinal muscular atrophy (SMA) is caused by bi-allelic loss or pathogenic variants in the SMN1 gene. SMN2, the highly homologous copy of SMN1, is considered the major phenotypic modifier of the disease. Determination of SMN2 copy number is …
View article: Practical guidelines to manage discordant situations of <i>SMN2</i> copy number in patients with spinal muscular atrophy
Practical guidelines to manage discordant situations of <i>SMN2</i> copy number in patients with spinal muscular atrophy Open
Our proposed guideline would help to systematically identify discordant SMA cases that warrant further genetic investigation. The SMN2 gene, as the main modifier of SMA phenotype, deserves a more in-depth study to provide more accur…
View article: Phenotypic Variability of Patients With <i>PAX8</i> Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid
Phenotypic Variability of Patients With <i>PAX8</i> Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid Open
Purpose Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases produced by a total/partial blockage of the biochemical processes of thyroid-hormone synthesis and secretion. Paired box 8 (PAX8) is essential for thyroid mo…
View article: Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling Open
X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent bacterial infections, profound hypogammaglob…
View article: X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients Open
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic var…
View article: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome Open
View article: Análisis de los procesos de evaluación mediante exámenes de tipo test y exámenes de desarrollo
Análisis de los procesos de evaluación mediante exámenes de tipo test y exámenes de desarrollo Open
Las pruebas escritas, permiten evaluar simultáneamente múltiples objetivos de aprendizaje. Nuestra experiencia previa con cuestionarios de tipo test y de respuesta corta o de desarrollo nos hace pensar que no reflejan de la misma forma los…
View article: Análisis crítico de la implementación de actividades en el aula distintas a la clase magistral
Análisis crítico de la implementación de actividades en el aula distintas a la clase magistral Open
Con objeto de ayudar a adquirir las competencias requeridas en diversas asignaturas relacionadas con la Farmacología que se imparten en distintos grados de la Universidad de Alicante, en los últimos años hemos planteado distintas experienc…
View article: Diferencias en la evaluación según el tipo de cuestionario: preguntas de tipo test y desarrollo
Diferencias en la evaluación según el tipo de cuestionario: preguntas de tipo test y desarrollo Open
Tanto las pruebas escritas de tipo test como las de respuesta de desarrollo permiten evaluar simultáneamente múltiples objetivos de aprendizaje. Aunque ambos se consideran buenos procedimientos evaluadores, análisis previos de nuestro grup…