Professor of Pediatrics, University Tex Houston
Pediatric Cardiology
Dr. Hope A. Northrup, MD
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Hope A. Northrup works in the field of Pediatric Cardiology. She went to medical school at University of Texas Southwestern Medical School. She received 4 awards: "America's Top Doctors", "Top Doctors:SE Texas", "Super Doctor" and "Fellow (FAAP)". Hope Northrup has written publications. She has 46 publications published with PubMed. The lastest publication is: 'Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.'
Publications
- Efficacy of a medical genetics rotation during pediatric training.
- Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
- KIAA2022 nonsense mutation in a symptomatic female.
- Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants.
- Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism.
- Association of facilitated glucose transporter 2 gene variants with the myelomeningocele phenotype.
- Genetic variations in the GLUT3 gene associated with myelomeningocele.
- Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference.
- Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele.
- Self-reported reproductive health in women with tuberous sclerosis complex.
- Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.
- Folate Metabolism Gene 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Is Associated with ADHD in Myelomeningocele Patients.
- Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex: A Double-Blind, Randomized, Controlled Trial to Evaluate the Safety ...
- Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.
- Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.
- Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
- Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.
- Association of retinoic acid receptor genes with meningomyelocele.
- A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele.
- Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
- Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.
- Epidemiologic and genetic aspects of spina bifida and other neural tube defects.
- Obstetrics/gynecology residents'' knowledge of hereditary breast and ovarian cancer and Lynch syndrome.
- Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.
- Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents.
- Tuberous sclerosis complex: disease modifiers and treatments.
- Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex.
- Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals.
- Genes in glucose metabolism and association with spina bifida.
- The impact of BRCA1 on spina bifida meningomyelocele lesions.
- Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells?
- Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
- Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.
- Introduction to the newborn screening fact sheets.
- Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
- Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
- Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.
- An assessment of risk understanding in Hispanic genetic counseling patients.
- Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity.
- Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.
- Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
- Knowledge and attitudes of Hispanic women and their health care providers about breast cancer risk factors and screening.
- Deletion 12q: a second patient with 12q24.31q24.32 deletion.
- Circadian pattern of blood pressure, heart rate, and double product in liver glycogen storage disease.
- Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.
Schools
Medical University of South Carolina
Chldns Med Center
Chldns Med Center University Tex Sw
Institute Molecgene Baylor
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Pediatric Cardiology
Accepted Insurances
Awards
- America's Top Doctors
- Top Doctors:SE Texas
- Super Doctor
- Fellow (FAAP)
Education
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University of Texas Health Science Center -
University of Texas Southwestern Medical School -
Medical University of South Carolina College of Medicine
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