Spina Bifida
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Last Posted: May 16, 2024
- A national postgraduate nurse practitioner and physician assistant fellowship in cystic fibrosis: An innovative approach to the provider shortage in complex and rare disease.
Cynthia J Brady et al. J Am Assoc Nurse Pract 2024 - Neighborhood Deprivation and Neural Tube Defects.
Shannon Pruitt Evans et al. Epidemiology 2023 34(6) 774-785 - The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Aafke Engwerda et al. Orphanet journal of rare diseases 2023 18(1) 59 - Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida
P Wolujewicz et al, Genetics in Medicine, March 8, 2021 - World Birth Defects Day, March 3, 2021
CDC, March 2021 - Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2020 Nov - Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.
Kiani Aysha Karim et al. Acta bio-medica : Atenei Parmensis 2020 Nov 91(13-S) e2020021 - Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov - Real Stories: Living with Spina Bifida
CDC, 2019 - Study reveals elevated cancer risk in children with birth defects,
EurekAlert, June 25, 2019
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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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