Search Results - "Northrup, Hope"

Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex.

Authors: Sánchez Fernández, Iván Soldatelli, Matheus D. Miller, Gillian N. et al.

Source: Epilepsia (Series 4). Feb2026, Vol. 67 Issue 2, p830-845. 16p.

Subjects: Convolutional neural networks, Tuberous sclerosis, Machine learning, Brain imaging, Magnetic resonance imaging, Neuroradiology

EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex

Authors: Cook, Ian A. Wilson, Andrew C. Peters, Jurriaan M. et al.

Source: Journal of Autism and Developmental Disorders. Mar 2020 50(3):916-923.

Peer Reviewed: Y

Page Count: 8

Sponsoring Agency: National Institute of Neurological Disorders and Stroke (NIH)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (NIH)

Descriptors: Diagnostic Tests, Sleep, Autism, Pervasive Developmental Disorders, Children, Symptoms (Individual Disorders), Genetic Disorders, Brain, Neurological Impairments

Identification of a novel microdeletion causative of Nance‐Horan syndrome.

Authors: Lopez Martinolich, Mariana Northrup, Hope Mancias, Pedro et al.

Source: Molecular Genetics & Genomic Medicine. Mar2022, Vol. 10 Issue 3, p1-5. 5p.

Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex.

Authors: Ihnen, S. Katie Z. Alperin, Samuel Capal, Jamie K. et al.

Source: Epilepsia (Series 4). Jan2025, Vol. 66 Issue 1, p117-133. 17p.

Subjects: Seizures (Medicine), Intellectual disabilities, Cognitive ability, Machine learning, Epilepsy, Biomarkers, Tuberous sclerosis, Neural development

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.

Authors: Tuller, Elena Samuels, Joshua A. Northrup, Hope et al.

Source: Molecular Genetics & Genomic Medicine. Mar2026, Vol. 14 Issue 3, p1-6. 6p.

Epidemiologic and Genetic Aspects of Spina Bifida and Other Neural Tube Defects

Authors: Au, Kit Sing Ashley-Koch, Allison Northrup, Hope

Source: Developmental Disabilities Research Reviews. 2010 16(1):6-15.

Peer Reviewed: Y

Page Count: 10

Descriptors: Prenatal Influences, Drug Use, Nutrition, Metabolism, Congenital Impairments, Pregnancy, Genetics, Etiology, Prevention, Epidemiology, Disabilities, Neurological Impairments, Risk, Age Differences, Racial Differences, Parents, Socioeconomic Status, Employment Level

Noonan syndrome and type 1 Chiari malformation: Possible association.

Authors: Samuels, Megan Northrup, Hope

Source: American Journal of Medical Genetics. Part A; Oct2024, Vol. 194 Issue 10, p1-5, 5p

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.

Authors: Richard, Melissa A. Lupo, Philip J. Ehli, Erik A. et al.

Source: American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-9, 9p

Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V.

Authors: Chung, Peter Northrup, Hope Azmath, Misbah et al.

Source: Case Reports in Pediatrics. 1/30/2018, p1-4. 4p.

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Patterns of co‐occurring birth defects in children with anotia and microtia.

Authors: Schraw, Jeremy M. Benjamin, Renata H. Shumate, Charles J. et al.

Source: American Journal of Medical Genetics. Part A; Mar2023, Vol. 191 Issue 3, p805-812, 8p

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NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.

Authors: Langley, Elizabeth Farach, Laura S. Koenig, Mary K. et al.

Source: American Journal of Medical Genetics. Part A; Jun2022, Vol. 188 Issue 6, p1688-1692, 5p

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.

Authors: Frigeni, Marta Rodriguez‐Buritica, David F. Saavedra, Heather et al.

Source: American Journal of Medical Genetics. Part A; Nov2021, Vol. 185 Issue 11, p3510-3516, 7p

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Authors: Northrup, Hope Aronow, Mary E. Bebin, E. Martina et al.

Source: Pediatric Neurology. Oct2021, Vol. 123, p50-66. 17p.

Folate Metabolism Gene 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Is Associated with ADHD in Myelomeningocele Patients.

Authors: Spellicy, Catherine J. Northrup, Hope Fletcher, Jack M. et al.

Source: PLoS ONE. Dec2012, Vol. 7 Issue 12, p1-7. 7p.

Epidemiologic and genetic aspects of spina bifida and other neural tube defects.

Authors: Kit Sing Au Ashley-Koch, Allison Northrup, Hope

Source: Developmental Disabilities Research Reviews. 2010, Vol. 16 Issue 1, p6-15. 10p. 1 Chart.

Subjects: Spina bifida, Genes, Heredity, Genomes, Genetics, Brain abnormalities, Patients

Patterns of congenital anomalies among individuals with trisomy 13 in Texas.

Authors: Diaz, Diego Benjamin, Renata H. Navarro Sanchez, Maria Luisa et al.

Source: American Journal of Medical Genetics. Part A; Jun2021, Vol. 185 Issue 6, p1787-1793, 7p