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Your search keyword '"Hydrocephalus -- Genetic aspects -- Research"' showing total 6 results
Start Over Descriptor "Hydrocephalus -- Genetic aspects -- Research"
6 results on '"Hydrocephalus -- Genetic aspects -- Research"'

1. Findings from University Children's Hospital in Hydrocephalus Provides New Insights (De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry)

Subjects
Physical fitness, Nervous system diseases -- Genetic aspects -- Research, Hydrocephalus -- Genetic aspects -- Research, Obesity, Anopheles, Editors, Central nervous system, Health
Abstract

2019 NOV 9 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Investigators discuss new findings in Central Nervous System Diseases and Conditions - [...]

Published
2019

2. Studies from Bambino Gesu Children's Hospital Yield New Data on Hydranencephaly (Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism)

Subjects
Physical fitness, Family, Nervous system diseases -- Genetic aspects -- Research, Hydrocephalus -- Genetic aspects -- Research, Health
Abstract

2018 MAR 24 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Data detailed on Central Nervous System Diseases and Conditions - Hydranencephaly have [...]

Published
2018

3. Studies from University of Washington Further Understanding of Hydrocephalus (Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus)

Subjects
Genetic research, Physical fitness, Medical research, Nervous system diseases -- Genetic aspects -- Research, Genetic disorders -- Genetic aspects -- Research, Hydrocephalus -- Genetic aspects -- Research, Health, University of Washington
Abstract

2018 MAR 17 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Researchers detail new data in Central Nervous System Diseases and Conditions - [...]

Published
2018

4. A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. (Original Articles)

Author

Reardon, William, Zhou, Xiao-Ping, and Eng, Charis

Subjects
Genetic disorders -- Research -- Genetic aspects, Hydrocephalus -- Genetic aspects -- Research, Macrocephaly -- Causes of -- Research -- Genetic aspects, Health, Genetic aspects, Research, Causes of
Abstract

Abstract Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba [...]

Published
2001

5. Researchers from SAPIENZA University of Rome Detail New Studies and Findings in the Area of Dandy-Walker Syndrome [Prenatal Whole Exome Sequencing Detects a New Homozygous Fukutin (Fktn) Mutation In a Fetus With an Ultrasound Suspicion of ...]

Subjects
Gene mutation, Medical research, Nervous system diseases -- Genetic aspects -- Research, Pregnant women, Hydrocephalus -- Genetic aspects -- Research, Genes, Anopheles, Editors, Central nervous system, Health
Abstract

2019 DEC 13 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- Current study results on Central Nervous System Diseases and Conditions - Dandy-Walker Syndrome [...]

Published
2019

6. Increased cerebrospinal fluid concentrations of soluble Fas (CD95/Apo-1) in hydrocephalus

Author

Felderhoff-Mueser, U, Herold, R, Hochhaus, F, Koehne, P, Ring-Mrozik, E, Obladen, M, and Buhrer, C

Subjects
Children -- Diseases, Cell death -- Genetic aspects -- Research, Pediatrics -- Research, Neural receptors -- Genetic aspects -- Research, Ligands (Biochemistry) -- Genetic aspects -- Research, Hydrocephalus -- Genetic aspects -- Research, Brain-damaged children -- Genetic aspects -- Research, Family and marriage, Health, Diseases, Genetic aspects, Research
Abstract

Abstract Background and aims--The ventricular enlargement observed in children with chronically raised intracranial pressure (ICP) causes a secondary loss of brain tissue. In animal studies of hydrocephalus, programmed cell death [...]

Published
2001

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