Cargando…

The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain, kidneys, heart, liver, eyes, lungs and skin, in addition to neurological and neuropsychiatric complications. Intracardi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Robinson, Jessica, Uzun, Orhan, Loh, Ne Ron, Harris, Isabelle Rose, Woolley, Thomas E., Harwood, Adrian J., Gardner, Jennifer Frances, Syed, Yasir Ahmed
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019964/ https://www.ncbi.nlm.nih.gov/pubmed/35440050 http://dx.doi.org/10.1186/s12916-022-02325-0

Ejemplares similares

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)
por: Feliciano, David M.
Publicado: (2020)

Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum
por: Smith, Callum J., et al.
Publicado: (2023)

Abnormal Neurodevelopmental Outcomes are Common in Children with Transient Congenital Hyperinsulinism
por: Avatapalle, Hima Bindu, et al.
Publicado: (2013)

Epileptogenic but MRI-normal perituberal tissue in Tuberous Sclerosis Complex contains tuber-specific abnormalities
por: Sosunov, Alexander A, et al.
Publicado: (2015)

The role of glia in epilepsy, intellectual disability, and other neurodevelopmental disorders in tuberous sclerosis complex
por: Wong, Michael
Publicado: (2019)

Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities
por: De Meulemeester, Ann-Sofie, et al.
Publicado: (2022)

Contribution of Congenital Heart Disorders Associated With Copy Number Variants in Mediating Risk for Brain Developmental Disorders: Evidence From 20-Year Retrospective Cohort Study
por: Dowden, Luke, et al.
Publicado: (2021)

Neurometabolic changes in neonates with congenital heart defects and their relation to neurodevelopmental outcome
por: Steger, Céline, et al.
Publicado: (2022)

Effects of bumetanide on neurodevelopmental impairments in patients with tuberous sclerosis complex: an open-label pilot study
por: van Andel, Dorinde M., et al.
Publicado: (2020)

A comparison of two studies and the prevalence and sex ratio of Neurodevelopmental conditions in Tuberous Sclerosis Complex
por: Runicles, Abigail K., et al.
Publicado: (2021)

Shared mechanisms of neural circuit disruption in tuberous sclerosis across lifespan: Bridging neurodevelopmental and neurodegenerative pathology
por: Litwa, Karen
Publicado: (2022)

A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex
por: Mammadova, D., et al.
Publicado: (2023)

Neural connectivity abnormalities in autism: Insights from the Tuberous Sclerosis model
por: Tye, Charlotte, et al.
Publicado: (2013)

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex
por: Kotulska, Katarzyna, et al.
Publicado: (2014)

mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders
por: Franz, David N., et al.
Publicado: (2017)

Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background
por: Savini, M. N., et al.
Publicado: (2020)

Congenital Abnormalities and Multiple Sclerosis
por: Ramagopalan, Sreeram V, et al.
Publicado: (2010)

Tuberous sclerosis
por: George, Anisha, et al.
Publicado: (2015)

Vital Signs: Zika-Associated Birth Defects and Neurodevelopmental Abnormalities Possibly Associated with Congenital Zika Virus Infection — U.S. Territories and Freely Associated States, 2018
por: Rice, Marion E., et al.
Publicado: (2018)

A congenital CMV infection model for follow-up studies of neurodevelopmental disorders, neuroimaging abnormalities, and treatment
por: Zhou, Yue-Peng, et al.
Publicado: (2022)

Tubers and Tumors Are CLIPped Together in Tuberous Sclerosis Complex
por: Dang, Louis
Publicado: (2022)

An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report
por: Rai, Santosh, et al.
Publicado: (2011)

All tubers are not created equal: Cerebellar tubers in a pediatric patient with tuberous sclerosis
por: Weerasinghe, Sanjeeva, et al.
Publicado: (2020)

AUTISM IN TUBEROUS SCLEROSIS
por: Khanna, Rakesh, et al.
Publicado: (1991)

Tuberous sclerosis with rhabdomyoma
por: Ajay, V., et al.
Publicado: (2013)

Tuberous (or Tuberose) Sclerosis
por: Fowler, J. S., et al.
Publicado: (1910)

Endosomal Recycling Defects and Neurodevelopmental Disorders
por: Saitoh, Shinji
Publicado: (2022)

Insulinoma and Tuberous Sclerosis: A Possible Mechanistic Target of Rapamycin (mTOR) Pathway Abnormality?
por: Kang, Michael Yoon, et al.
Publicado: (2017)

Vigabatrin-associated brain abnormalities on MRI in tuberous sclerosis complex patients with infantile spasms: are they preventable?
por: Wan, Lin, et al.
Publicado: (2022)

Case of Congenital Defect of the Rectum
por: Robinson, B. W.
Publicado: (1864)

Birth Defects and Long-Term Neurodevelopmental Abnormalities in Infants Born During the Zika Virus Epidemic in the Dominican Republic
por: Pimentel, Raquel, et al.
Publicado: (2021)

Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities
por: Scott, Caroline, et al.
Publicado: (2020)

P52 Feasibility of “The Defect Study”: Neonatal diaphragmatic defect measurement and repair techniques in Congenital Diaphragmatic Hernia
por: Eastwood, M P, et al.
Publicado: (2021)

Seizure Localization in Patients with Multiple Tubers: Presurgical Evaluation in Tuberous Sclerosis
por: Song, Pamela, et al.
Publicado: (2012)

Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex
por: Sánchez Fernández, Iván, et al.
Publicado: (2020)

Abnormal White Matter Microstructure in the Limbic System Is Associated With Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders
por: Sato, Akemi, et al.
Publicado: (2022)

Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neurons
por: Coffinier, Catherine, et al.
Publicado: (2011)

MUNC18–1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development
por: Hamada, Nanako, et al.
Publicado: (2017)

Tuberous Sclerosis Complex in Autism
por: Guo, Xin, et al.
Publicado: (2012)

Bilateral Cataracts in Tuberous Sclerosis
por: Ganekal, Sunil, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_vt88a2a7fm6upqpmlggl81hn3q