Tuberous Sclerosis
What's New
Last Posted: Aug 08, 2023
- Creating rare epilepsy cohorts using keyword search in electronic health records.
Kristen Barbour et al. Epilepsia 2023 - Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey.
Hanna Skrobanski et al. Orphanet J Rare Dis 2023 18(1) 78 - Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Sekine Akinari et al. Journal of clinical medicine 2022 11(21) - Tuberous Sclerosis Complex Patients' Needs and Difficulties-Results of TAND Questionnaire Analysis in Polish Adult Population.
Marcinkowska Anna B et al. Journal of clinical medicine 2022 11(21) - Accelerated approvals hit the target in precision oncology
V Subbiah et al, Nature Medicine, October 3, 2022 - Genetics of Pancreatic Neuroendocrine Tumors.
Mohindroo Chirayu et al. Hematology/oncology clinics of North America 2022 - New Clinical Trial Grants for Rare Diseases
R Rubin, JAMA, November 23, 2021 - Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.
Nabbout Rima et al. Frontiers in neurology 2021 12697467 - Tuberous Sclerosis: Current Update.
Wang Mindy X et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2021 210103 - Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021
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About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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