Cerebrooculofacioskeletal Syndrome 1

Known as: Cofs Syndrome, Pena-Shokeir Syndrome, Type II, Cerebrooculofacioskeletal Syndrome 
A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1970-2018
0102019702018

Related topics

Related topics

26 relations
Agenesis of corpus callosumArthrogryposisAutosomal recessive inheritanceBlepharophimosis
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Broader (1)

Cockayne Syndrome

Related mentions per year

Related mentions per year

1936-2019
19401960198020002020
Cerebrooculofacioskeletal Syndrome 1
Sensorineural Hearing Loss (disorder)
Osteoporosis
Cataract
Autosomal recessive inheritance
Nystagmus

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Emergence, spread and characteristics of Neisseria gonorrhoeae isolates with in vitro decreased susceptibility and resistance to extended-spectrum cephalosporins in Sweden.
BACKGROUND Neisseria gonorrhoeae has developed resistance to most antimicrobials used for treatment. Worryingly, treatment… (More)
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2010
2010
Determination of coefficient of friction for self-expanding stent-grafts.
Migration of stent-grafts (SGs) after endovascular aneurysm repair of abdominal aortic aneurysms is a serious complication that… (More)
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2009
2009
A photoconductive covalent organic framework: self-condensed arene cubes composed of eclipsed 2D polypyrene sheets for photocurrent generation.
Covalent organic frameworks (COFs) are porous crystalline materials with predesignable 2D and 3D polymer structures. Owing to the… (More)
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Highly Cited
2008
Highly Cited
2008
Influence of epidermal hydration on the friction of human skin against textiles.
Friction and shear forces, as well as moisture between the human skin and textiles are critical factors in the formation of skin… (More)
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2008
2008
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
BACKGROUND The cerebro-oculo-facio-skeletal syndrome (COFS syndrome) is an autosomal recessive disorder which was initially… (More)
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2001
2001
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain… (More)
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2000
2000
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with… (More)
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1998
1998
Material properties of commonly-used interface materials and their static coefficients of friction with skin and socks.
  • J E Sanders, J M Greve, S B Mitchell, Santosh G Zachariah
  • Journal of rehabilitation research and…
  • 1998
Compressive stiffness (CS) of different supporting materials used in prosthetics and orthotics and their static coefficients of… (More)
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1989
1989
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.
Two patients with early onset Cockayne's syndrome are presented. In each case there was a striking failure of growth and… (More)
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1986
1986
Early events elicited by bombesin and structurally related peptides in quiescent Swiss 3T3 cells. I. Activation of protein kinase C and inhibition of epidermal growth factor binding
Addition of bombesin to quiescent cultures of Swiss 3T3 cells caused a rapid increase in the phosphorylation of an Mr 80,000… (More)
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