Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl

2020 ◽  
Vol 13 (6) ◽  
pp. 1096-1101
Author(s):  
Yusuke Hashimoto ◽  
Koji Yokoyama ◽  
Hideki Kumagai ◽  
Yuko Okada ◽  
Takanori Yamagata
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Smad4 Mutation

SMAD4 Mutation and Combined Juvenile Polyposis Syndrome/Hereditary Hemorrhagic Telangiectasia

2018 ◽  
Vol 113 (Supplement) ◽  
pp. S850
Author(s):  
Jack Scolaro ◽  
Deena Kapadia ◽  
Houssam Kharrat ◽  
Vani Thirumala ◽  
Seshadri Thirumala
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Smad4 Mutation

The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome

2012 ◽  
Vol 55 (8) ◽  
pp. 886-892 ◽  
Author(s):  
Margaret O’Malley ◽  
Lisa LaGuardia ◽  
Matthew F. Kalady ◽  
Joseph Parambil ◽  
Brandie Heald ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred

2012 ◽  
Vol 24 (8) ◽  
pp. 988-994 ◽  
Author(s):  
Verena Schwetz ◽  
Sabine Uhrig ◽  
Ekkehard Spuller ◽  
Andrea Deutschmann ◽  
Christoph Högenauer
Keyword(s):  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Mutation Carriers ◽  
Smad4 Mutation

Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due toSMAD4

2015 ◽  
Vol 167 (8) ◽  
pp. 1758-1762 ◽  
Author(s):  
Brandie Heald ◽  
Christina Rigelsky ◽  
Rocio Moran ◽  
Lisa LaGuardia ◽  
Margaret O'Malley ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals The prevalence of hereditary hemorrhagic telangiectasia in Juvenile Polyposis syndrome patients with SMAD4 mutations

2011 ◽  
Vol 9 (Suppl 1) ◽  
pp. O5 ◽  
Author(s):  
Margaret O’Malley ◽  
Lisa LaGuardia ◽  
Matthew Kalady ◽  
Joe Parambil ◽  
Brandie Leach ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

Juvenile Polyposis Syndrome, SMAD4 Mutations, and Hereditary Hemorrhagic Telangiectasia

2012 ◽  
Vol 54 (1) ◽  
pp. 120-122 ◽  
Author(s):  
Frank Schwenter ◽  
Felix Ratjen ◽  
Terri Berk ◽  
Steve Gallinger ◽  
Rob Gryfe ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome
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