scholarly journals Sneddon Syndrome with Anti-Cardiolipin Antibody

2021 ◽  
Vol 39 (1) ◽  
pp. 48-50
Author(s):  
Chonghwee Lee ◽  
Hyukje Lee ◽  
Hyeryung Kwon ◽  
Hansol Im ◽  
Miyeon Yoon ◽  
...  
Keyword(s):  
Sneddon Syndrome

Sneddon Syndrome with or without Antiphospholipid Antibodies: A Comparative Study in 46 Patients

Medicine ◽  
1999 ◽  
Vol 78 (4) ◽  
pp. 209-219 ◽  
Author(s):  
Camille Francès ◽  
Thomas Papo ◽  
Bertrand Wechsler ◽  
Jean-Luc Laporte ◽  
Valérie Biousse ◽  
...  
Keyword(s):  
Comparative Study ◽  
Antiphospholipid Antibodies ◽  
Sneddon Syndrome

scholarly journals Cognitive and psychiatric changes as first clinical presentation in Sneddon syndrome

2018 ◽  
Author(s):  
Giorgio Fabiani ◽  
Raul Filho ◽  
Luis Sousa ◽  
Gelson Koppe ◽  
Zeferino Demartini Jr ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Sneddon Syndrome

scholarly journals Sneddon syndrome – imaging findings

2015 ◽  
Vol 74 (1) ◽  
pp. 83-84 ◽  
Author(s):  
Pedro Henrique Teixeira Junqueira ◽  
Paulo Puglia Jr ◽  
Lázaro Luís Faria do Amaral ◽  
Mauricio Hoshino
Keyword(s):  
Imaging Findings ◽  
Sneddon Syndrome

scholarly journals A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

2020 ◽  
Author(s):  
Elli Katharine Greisenegger ◽  
Sara Llufriu ◽  
Angel Chamorro ◽  
Alvaro Cervera ◽  
Adriano Jimenez-Escrig ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Underlying Disease ◽  
Allelic Loss ◽  
Pediatric Stroke ◽  
Loss Of Function ◽  
Whole Exome ◽  
Epidermal Growth ◽  
Epidermal Growth Factor Repeat ◽  
Homozygous Nonsense Mutation ◽  
Sneddon Syndrome

Abstract Sneddon syndrome is a rare disorder affecting small and medium-sized blood vessels that is characterized by the association of livedo reticularis and stroke. We performed whole-exome sequencing (WES) in 2 affected siblings of a consanguineous family with childhood-onset stroke and identified a homozygous nonsense mutation within the epidermal growth factor repeat (EGFr) 19 of NOTCH3, p.(Arg735Ter). WES of 6 additional cases with adult-onset stroke revealed 2 patients carrying heterozygous loss-of-function variants in putative NOTCH3 downstream genes, ANGPTL4, and PALLD. Our findings suggest that impaired NOTCH3 signaling is one underlying disease mechanism and that bi-allelic loss-of-function mutation in NOTCH3 is a cause of familial Sneddon syndrome with pediatric stroke.

scholarly journals Sneddon syndrome associated with Protein S deficiency

2012 ◽  
Vol 78 (3) ◽  
pp. 407 ◽  
Author(s):  
SerapGunes Bilgili ◽  
Temel Tombul ◽  
Refah Sayin ◽  
AyseSerap Karadag
Keyword(s):  
Protein S ◽  
Protein S Deficiency ◽  
S Deficiency ◽  
Sneddon Syndrome

Perioperative management of Sneddon syndrome during thyroidectomy

2008 ◽  
Vol 20 (6) ◽  
pp. 458-461 ◽  
Author(s):  
Sezgin Ulukaya ◽  
Ozer Makay ◽  
Gokhan Icoz ◽  
Fusun Demir ◽  
Taylan Sezer
Keyword(s):  
Perioperative Management ◽  
Sneddon Syndrome

scholarly journals Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide

2010 ◽  
Vol 112 (6) ◽  
pp. 544-547 ◽  
Author(s):  
Peter M. Hannon ◽  
Sheng-Han Kuo ◽  
Adriana M. Strutt ◽  
Michele K. York ◽  
Joseph S. Kass
Keyword(s):  
Neurological Symptoms ◽  
Emotional Status ◽  
Sneddon Syndrome

Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter

2000 ◽  
Vol 22 (6) ◽  
pp. 390-393 ◽  
Author(s):  
Antonia Parmeggiani ◽  
Annio Posar ◽  
Lucilla Badiali De Giorgi ◽  
Simonetta Sangiorgi ◽  
Mirella Mochi ◽  
...  
Keyword(s):  
White Matter ◽  
Cerebral White Matter ◽  
Arylsulfatase A ◽  
Sneddon Syndrome
Sign in / Sign up

Export Citation Format

Share Document