Hydrocephalus
What's New
Last Posted: Nov 30, 2023
- Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Ana B W Greenberg et al. JAMA Netw Open 2023 6(11) e2343384 - Association Between Proton Pump Inhibitor Use During Early Pregnancy and Risk of Congenital Malformations.
Choi Ahhyung et al. JAMA network open 2023 6(1) e2250366 - Applications of Machine Learning in Pediatric Hydrocephalus: A Systematic Review.
Pahwa Bhavya et al. Neurology India 2022 69(Supplement) S380-S389 - JAMIR-eQTL: Japanese genome-wide identification of microRNA expression quantitative trait loci across dementia types.
Akiyama Shintaro et al. Database : the journal of biological databases and curation 2021 2021(2021) - Predictors of cognitive, behavioural and academic difficulties in NF1.
Geoffray Marie-Maude et al. Journal of psychiatric research 2021 140545-550 - Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus.
Sullivan William et al. JAMA pediatrics 2020 Nov - Unlocking the genetic complexity of congenital hydrocephalus
ME Ross, Nature Medicine, October 26, 2020 - Evaluation of an artificial intelligent hydrocephalus diagnosis model based on transfer learning.
Duan Weike et al. Medicine 2020 Jul 99(29) e21229 - Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray Adolfo et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020 Jan - Automated deep-neural-network surveillance of cranial images for acute neurologic events.
Titano Joseph J et al. Nature medicine 2018 24(9) 1337-1341 - Big Data Research in Pediatric Neurosurgery: Content, Statistical Output, and Bibliometric Analysis.
Oravec Chesney S et al. Pediatric neurosurgery 2019 54(2) 85-97 - Automated detection of imaging features of disproportionately enlarged subarachnoid space hydrocephalus using machine learning methods.
Gunter Nathaniel B et al. NeuroImage. Clinical 2019 21101605 - CLINGEN Actionability Report for Hereditary transthyretin-related amyloidosis - TTR
ClinGen Actionability Working Group - CLINGEN Actionability Report for Basal Cell Nevus Syndrome (BCNS) - PTCH1
ClinGen Actionability Working Group - Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.
Kline-Fath Beth M et al. Pediatric radiology 2018 Mar - Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Eisengart Julie B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Amelia cleft lip palate hydrocephalus iris coloboma
From NCATS Genetic and Rare Diseases Information Center - BOR-Duane hydrocephalus contiguous gene syndrome
From NCATS Genetic and Rare Diseases Information Center - Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
From NCATS Genetic and Rare Diseases Information Center - Hydrocephalus
From NCATS Genetic and Rare Diseases Information Center - Hydrocephalus autosomal recessive
From NCATS Genetic and Rare Diseases Information Center - Hydrocephalus craniosynostosis bifid nose
From NCATS Genetic and Rare Diseases Information Center - Hydrocephalus due to congenital stenosis of aqueduct of sylvius
From NCATS Genetic and Rare Diseases Information Center - Hydrocephalus growth retardation skeletal anomalies
From NCATS Genetic and Rare Diseases Information Center - Hydrocephalus obesity hypogonadism
From NCATS Genetic and Rare Diseases Information Center - Hydrocephalus skeletal anomalies
From NCATS Genetic and Rare Diseases Information Center - Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
From NCATS Genetic and Rare Diseases Information Center - Hydrocephalus-cleft palate-joint contractures syndrome
From NCATS Genetic and Rare Diseases Information Center - Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
From NCATS Genetic and Rare Diseases Information Center - Thoracic dysplasia hydrocephalus syndrome
From NCATS Genetic and Rare Diseases Information Center
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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
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- Fragile X Syndrome
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- Graves Disease
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- Microcephaly
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- Retinitis Pigmentosa
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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
- Page last updated:May 03, 2024
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