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Your search keyword '"Hydrocephalus -- Genetic aspects"' showing total 29 results
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29 results on '"Hydrocephalus -- Genetic aspects"'

1. Investigators from Duke University Release New Data on Dandy-Walker Syndrome (Novel Association of Dandy-walker Malformation With Capn15 Variants Expands the Phenotype of Oculogastrointestinal Neurodevelopmental Syndrome)

Subjects
Medical research, Medicine, Experimental, Eye diseases -- Genetic aspects, Nervous system diseases -- Genetic aspects, Hydrocephalus -- Genetic aspects, Health, Duke University
Abstract

2023 SEP 15 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- Researchers detail new data in Central Nervous System Diseases and Conditions - Dandy-Walker [...]

Published
2023

2. Findings from Wenzhou Medical University Provides New Data on Hydrocephalus (Prenatal Diagnosis of a Nonsense Mutation In the L1cam Gene Resulting In Congenital Hydrocephalus: a Case Report and Literature Review)

Subjects
Genetic disorders -- Genetic aspects, Genetic research -- Genetic aspects, Nervous system diseases -- Genetic aspects, Genes -- Genetic aspects, Hydrocephalus -- Genetic aspects, Pregnant women, Physical fitness, Health
Abstract

2021 DEC 11 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Research findings on Central Nervous System Diseases and Conditions - Hydrocephalus are [...]

Published
2021

3. Researchers' Work from Marshall University Focuses on Hydrocephalus (Genes Causing Congenital Hydrocephalus: Their Chromosomal Characteristics of Telomere Proximity and Dna Compositions)

Subjects
Gene mutations -- Genetic aspects, DNA -- Genetic aspects, Genetic research -- Genetic aspects, Genes -- Genetic aspects, Diseases -- Genetic aspects -- West Virginia, Hydrocephalus -- Genetic aspects, Telomeres -- Genetic aspects, Physical fitness, Health, Marshall University
Abstract

2021 FEB 6 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Data detailed on Central Nervous System Diseases and Conditions - Hydrocephalus have [...]

Published
2021

4. Research Results from Iran University of Medical Sciences Update Knowledge of Normal Pressure Hydrocephalus (Cerebrospinal fluid biomarkers and genetic factors associated with normal pressure hydrocephalus and Alzheimer's disease: a narrative ...)

Subjects
Genetic research -- Genetic aspects, Mental health, Hydrocephalus -- Genetic aspects, Alzheimer's disease -- Genetic aspects, Health, Psychology and mental health
Abstract

2022 MAR 28 (NewsRx) -- By a News Reporter-Staff News Editor at Mental Health Weekly Digest -- Researchers detail new data in normal pressure hydrocephalus. According to news reporting from [...]

Published
2022

5. Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

Author

Meyer, Esther, Ricketts, Christopher, Morgan, Neil V., Morris, Mark R., Pasha, Shanaz, Tee, Louise J., Rahman, Fatimah, Bazin, Anne, Bessieres, Bettina, Dechelotte, Pierre, Yacoubi, Mohamed T., Al-Adnani, Mudher, Marton, Tamas, Tannahill, David, Trembath, Richard C., Fallet-Bianco, Catherine, Cox, Phillip, Williams, Denise, and Maher, Eamonn R.

Subjects
Gene mutations -- Research, Proliferative vitreoretinopathy -- Genetic aspects, Hydrocephalus -- Genetic aspects, Biological sciences
Abstract

A study performs autozygosity mapping in three consanguineous families to identify the molecular basis for proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also called Fowler syndrome. Results reveal that germline mutations in FLVCR2 gene in the 14q24.3 chromosome are associated with PVHH.

Published
2010

6. GENETICS OF HYDROCEPHALUS

Subjects
Gene expression -- Genetic aspects, Homeopathy -- Materia medica and therapeutics, Hydrocephalus -- Genetic aspects, Therapeutics, News, opinion and commentary, Vanderbilt University
Abstract

NASHVILLE, Tenn. -- The following information was released by Vanderbilt University: by Leigh MacMillan Hydrocephalus ù a build-up of cerebrospinal fluid (CSF) in the brain ù affects about 1 in [...]

Published
2021

8. Reports Summarize Hydrocephalus Findings from University of Ege (Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations)

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

2018 SEP 22 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Data detailed on Central Nervous System Diseases and Conditions - Hydrocephalus have [...]

Published
2018

9. Researchers at Cincinnati Children's Hospital Have Reported New Data on Hydrocephalus (A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice)

Subjects
Physical fitness, Newborn infants, Medical research, Pediatrics, Nervous system diseases -- Genetic aspects, Hydrocephalus -- Genetic aspects, Health
Abstract

2018 FEB 24 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- New research on Central Nervous System Diseases and Conditions - Hydrocephalus is [...]

Published
2018

10. Genetics of human hydrocephalus

Author

Zhang, Jun, Williams, Michael A., and Rigamonti, Daniele

Subjects
Hydrocephalus -- Genetic aspects, Hydrocephalus -- Diagnosis, Hydrocephalus -- Care and treatment, Health
Published
2006

11. The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

Author

Kume, Tsutomu, Deng, Ke-Yu, Winfrey, Virginia, Gould, Douglas B., Walter, Michael A., and Hogan, Drigid L.M.

Subjects
Mice -- Genetic aspects, Hydrocephalus -- Genetic aspects, Biological sciences
Abstract

Disruption of the Mf1 gene which codes for a forkhead/winged helix transcription factor results in skeletal abnormalities, eye defects and hydrocephalus. This gene is expressed in mesenchymal tissues destined to be cartilages, meninges, periocular tissues, endothelium or kidney. Homozygous null mutation of this gene in mice results in hydrocephalic fetuses containing eye defects. These mice die at birth.

Published
1998

12. A specific, nonproliferative role for E2F-5 in choroid plexus function revealed by gene targeting

Author

Lindeman, Geoffrey J., Dagnino, Lina, Gaubatz, Stefan, Xu, Yuhui, Bronson, Roderick T., Warren, Henry B., and Livingston, David M.

Subjects
Gene mutations -- Research, Hydrocephalus -- Genetic aspects, Choroid plexus -- Research, Cerebrospinal fluid pressure -- Research, Secretion -- Regulation, Biological sciences
Abstract

In homozygous E2F-5 knockout embryos and mice, embryonic development seemed normal, but newborn mice in time had nonobstructive hydrocephalus. That indicates too much cerebrospinal fluid (CSF). Even though the CSF-producing choroid plexus had normal cell organization it had abundant electron-lucent epithelial cells. That would indicate too much CSF secretion. E2F-5 CNS expression in normal animals was mostly from the choroid plexus. Cell cycle kinetics were not altered in homozygous knockout embryo fibroblasts. E2F-5 is not required for cell proliferation. It changes secretory behavior of differentiated neural tissue.

Published
1998

13. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Author

Saillour, Y., Zanni, G., Des Portes, V., Heron, D., Guibaud, L., Iba-Zizen, M.T., Pedespan, J.L., Poirier, K., Castelnau, L., Julien, C., Franconnet, C., Bonthron, D., Porteous, M.E., Chelly, J., and Bienvenu, T.

Subjects
Fragile X syndrome -- Genetic aspects, Fragile X syndrome -- Research, Hydrocephalus -- Genetic aspects, Hydrocephalus -- Physiological aspects, Gene mutations -- Testing, Basal ganglia -- Physiological aspects, Calcification -- Physiological aspects, Health
Published
2007

15. Bickers-Adams phenotype caused by disruptive brain damage

Author

Enza-Razavi, F., Saugier-Veber, P., Martinovic, J., Carves, C., Aubry, M.C., Jouannic, J.M., Dumez, Y., Vekemans, M., and Frebourg, T.

Subjects
Genetic disorders -- Research, Hydrocephalus -- Genetic aspects, Biological sciences
Published
2001

16. Research from University of Freiburg Broadens Understanding of Hydrocephalus

Subjects
Hydrocephalus -- Genetic aspects, Universities and colleges -- Germany, Health
Abstract

A report, 'Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus,' is newly published data in Neurogenetics. 'Mutations in the gene encoding [...]

Published
2012

17. New findings from A. Takahashi and co-researchers in the area of hydrocephalus described

Subjects
Health -- Reports, Health -- Analysis, Health -- Genetic aspects, Hydrocephalus -- Reports, Hydrocephalus -- Analysis, Hydrocephalus -- Genetic aspects
Abstract

"Hydrocephalus is a significant clinical condition in humans and is known to be a multifactorial neurologic disorder. It has been thought that genetic factors are closely involved in the etiology [...]

Published
2008

18. Toxoplasmic retinochoroiditis and hydrocephalus

Author

Rekhi, Gulbir, Sharma, D., Sharma, Pramod, and Prabhakar, Girish

Subjects
Hydrocephalus -- Diagnosis, Hydrocephalus -- Care and treatment, Hydrocephalus -- Genetic aspects, Hydrocephalus -- Case studies, Health
Published
1991

19. There might be more to SPG4!

Author

van de Warrenburg, Bart P.C.

Subjects
Paralysis, Spastic -- Genetic aspects, Gene mutations -- Analysis, Hydrocephalus -- Analysis, Hydrocephalus -- Genetic aspects, Health, Psychology and mental health
Published
2009

20. Identical twins with idiopathic external hydrocephalus

Author

Cundall, D.B., Lamb, J.T., and Roussounis, S.H.

Subjects
Head -- Growth, Hydrocephalus -- Diagnosis, Hydrocephalus -- Causes of, Hydrocephalus -- Genetic aspects, Health
Abstract

External hydrocephalus is characterized by excessively rapid head growth, enlargement of the subarachnoid spaces (the spaces between the two inner membranes, the pia and arachnoid, covering the brain and spinal cord), and moderate or no dilatation of the ventricles, the cavities of the brain. This condition may be associated with certain conditions such as genetic syndromes, or it may have no known cause (idiopathic). Idiopathic external hydrocephalus is associated with a good prognosis but a delay in early gross motor development. The occurrence of idiopathic external hydrocephalus in a set of twins is described and provides further evidence of a genetic basis for this condition. Idiopathic external hydrocephalus has been associated with a benign clinical course and a family history of macrocephaly, or abnormal largeness of the head, which usually affects males. The father of the twins in this case had a head circumference in the upper values for this measurement. Surgery is usually not required for the management of idiopathic external hydrocephaly. Enlargement of the subarachnoid spaces may result from abnormalities in the absorption or production of cerebrospinal fluid, which bathes the brain and spinal cord. A decrease in the size of the spaces with time has been associated with the proliferation or overgrowth of neurons. This is the first reported case of idiopathic external hydrocephalus occurring in identical twins. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1989

21. Investigators at Hamamatsu University zero in on hydrocephalus

Subjects
Hydrocephalus -- Genetic aspects, Universities and colleges, Pharmaceuticals and cosmetics industries, Health
Abstract

'We attempted to detect natural mutations existing in the Jcl:ICR closed colony of mice which is maintained by random mating. We used ordinary genetic backcrosses to efficiently detect recessive mutations [...]

Published
2010

22. Reports outline hydrocephalus research from M. Kanariou and colleagues

Subjects
Hydrocephalus -- Research, Hydrocephalus -- Genetic aspects, Medical research -- Genetic aspects, Medicine, Experimental -- Genetic aspects, Anti-inflammatory drugs -- Research, Anti-inflammatory drugs -- Genetic aspects, Biotechnology industry, Pharmaceuticals and cosmetics industries
Abstract

According to recent research published in the journal Klinische Padiatrie, 'We report on a 22-year-old girl with a history of recurrent febrile episodes, chronic arthritis, urticarial rash, and neurological symptoms [...]

Published
2009

23. Studies from Medical School, Department of Otolaryngology reveal new findings on dandy-walker syndrome genetics

Subjects
Medical research -- Genetic aspects, Medicine, Experimental -- Genetic aspects, Otolaryngology -- Genetic aspects, Hydrocephalus -- Genetic aspects, Biotechnology industry, Pharmaceuticals and cosmetics industries
Abstract

Investigators publish new data in the report 'Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.' According to a [...]

Published
2009

24. Research from Sahlgrenska University in the area of medical genetics published

Subjects
Medical genetics -- Reports, Medical genetics -- Genetic aspects, Universities and colleges -- Reports, Universities and colleges -- Genetic aspects, Hydrocephalus -- Reports, Hydrocephalus -- Genetic aspects, Neural tube -- Abnormalities, Neural tube -- Reports, Neural tube -- Genetic aspects, Health, Pharmaceuticals and cosmetics industries
Abstract

'Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to Update the phenotypic map [...]

Published
2009

25. Studies from P. Griseri et al further understanding of hydrocephalus

Subjects
Hirschsprung's disease -- Genetic aspects, Hydrocephalus -- Genetic aspects
Abstract

"Hirschsprung's disease (HSCR), a congenital complex disorder of intestinal innervation, is often associated with other inherited syndromes. Identifying genes involved in syndromic HSCR cases will not only help understanding the [...]

Published
2009

26. Studies from Columbus Children's Hospital have provided new data on hydrocephalus

Subjects
Movement disorders -- Research, Movement disorders -- Genetic aspects, Hydrocephalus -- Research, Hydrocephalus -- Genetic aspects, Children's hospitals -- Genetic aspects
Abstract

According to recent research from the United States, "Primary ciliary dyskinesia (PCD) results from ciliary dysfunction and is commonly characterized by sinusitis, male infertility, hydrocephalus, and situs inversus. Mice homozygous [...]

Published
2008

27. Research from Northwestern University, Department of Neurology has provided new information about life sciences

Subjects
Hydrocephalus -- Reports, Hydrocephalus -- Analysis, Hydrocephalus -- Genetic aspects, Universities and colleges -- Reports, Universities and colleges -- Analysis, Universities and colleges -- Genetic aspects
Abstract

Scientists discuss in 'Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity' new findings in life sciences. "We previously reported a Vietnamese-American [...]

Published
2008

28. Research from University of South Carolina in the area of hydrocephalus published

Subjects
Polyposis, Familial -- Research, Polyposis, Familial -- Genetic aspects, Dynein -- Genetic aspects, Universities and colleges -- Genetic aspects, Hydrocephalus -- Research, Hydrocephalus -- Genetic aspects
Abstract

According to recent research from the United States, "Hemizygous Lis1 mutations cause type 1 lissencephaly, a neuronal migration disorder in humans (see also Hydrocephalus). The Lis1+/- mouse is a model [...]

Published
2008

29. New research on hydrocephalus from University Hospital summarized

Subjects
Cell research -- Genetic aspects, Hydrocephalus -- Research, Hydrocephalus -- Genetic aspects
Abstract

Fresh data on hydrocephalus are presented in the report "L1CAM mutation in a boy with hydrocephalus and duplex kidneys." According to recent research published in the journal Pediatric Nephrology, "Mutations [...]

Published
2007

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