Results 61 to 70 of about 82,723 (215)

GAPPS - Gastric Adenocarcinoma and Proximal Polyposis of the Stomach Syndrome in 8 Families Tested at Masaryk Memorial Cancer Institute - Prevention and Prophylactic Gastrectomies.

Klinicka onkologie, 2019
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare variant of familial adenomatous polyposis. It is an autosomal-dominant cancer-predisposition syndrome with massive polyposis of the stomach and a significant risk of gastric ...
L. Foretova, M. Navratilova, M. Svoboda, P. Grell, L. Němec, L. Sirotek, R. Obermannova, I. Novotný, M. Šachlová, P. Fabián, R. Kroupa, P. Vasickova, J. Hazova, E. Sťahlová, E. Macháčková   +14 more
semanticscholar   +1 more source

Avaliação endoscópica nasal de crianças e adolescentes com fibrose cística Nasal endoscopic evaluation of children and adolescents with cystic fibrosis

Brazilian Journal of Otorhinolaryngology, 2009
As principais manifestações otorrinolaringológicas da Fibrose Cística são a rinossinusite crônica e a polipose nasossinusal, com diferentes apresentações clínicas.
Letícia Paiva Franco, Paulo Augusto Moreira Camargos, Helena Maria Gonçalves Becker, Roberto Eustáquio Santos Guimarães   +3 more
doaj   +1 more source

Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis

American Journal of Human Genetics, 2016
In around 30% of families with colorectal adenomatous polyposis, no germline mutation in the previously-implicated genes APC, MUTYH, POLE, POLD1, or NTHL1 can be identified, although a hereditary etiology is likely.
Ronja Adam, I. Spier, Bixiao Zhao, M. Kloth, Jonathan Marquez, I. Hinrichsen, J. Kirfel, A. Tafazzoli, S. Horpaopan, S. Uhlhaas, D. Stienen, N. Friedrichs, J. Altmüller, A. Laner, S. Holzapfel, S. Peters, K. Kayser, H. Thiele, E. Holinski-Feder, G. Marra, G. Kristiansen, M. Nöthen, R. Büttner, G. Möslein, R. Betz, A. Brieger, R. Lifton, S. Aretz   +27 more
semanticscholar   +1 more source

The Evaluation of Vitamin D Deficiency in Patients with Nasal Polyposis

Otorhinolaryngology and Facial Plastic Surgery, 2020
Background: Despite performing surgical treatment, chronic rhinosinusitis coexisting with polyposis has recurrent episodes. Considering the strong association between nasal polyposis and asthma, the role of Vitamin D deficiency has been demonstrated in ...
Mahdi Khajavi, Shrin Golmohammadi, Mahbobe Oroei, Ali Asghar Peyvandi   +3 more
doaj   +1 more source

Practical management of polyposis syndromes

Frontline Gastroenterology, 2019
Hereditary bowel tumours are usually part of a distinct syndrome which require management of both intestinal and extra-intestinal disease. Polyposis syndromes include: Familial adenomatous polyposis, MUTYH-associated polyposis, Serrated polyposis ...
Roshani Patel, W. Hyer
semanticscholar   +1 more source

Genetic Testing of Japanese Patients with Serrated Polyposis Syndrome: A Multicentric Study

Journal of the Anus, Rectum and Colon
Objectives: Serrated polyposis syndrome (SPS) is a rare condition associated with an increased risk of colorectal cancer. However, the genetic basis of SPS in Japanese patients remains unclear.
Akinari Takao, Tatsuro Yamaguchi, Hidetaka Eguchi, Yasushi Okazaki, Hideki Ishikawa, Kiwamu Akagi, Hideyuki Ishida   +6 more
doaj   +1 more source

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas

Scientific Reports, 2019
The cancer-predisposing syndrome caused by biallelic mutations in NTHL1 may not be a solely colorectal cancer (CRC) and polyposis syndrome but rather a multi-tumor recessive disease.
S. Belhadj, I. Quintana, P. Mur, P. Muñoz-Torres, M. Alonso, M. Navarro, M. Terradas, V. Piñol, J. Brunet, V. Moreno, C. Lázaro, G. Capellá, L. Valle   +12 more
semanticscholar   +1 more source

High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

BMC Cancer, 2011
Background MUTYH-associated polyposis (MAP) is an autosomal recessive form of intestinal polyposis predisposing to colorectal carcinoma. High resolution melting analysis (HRMA) is a mutation scanning method that allows detection of heterozygous sequence ...
Sestini Roberta, Orlando Claudio, Alvau Antonio, Crucianelli Francesca, Tricarico Rossella, Tonelli Francesco, Valanzano Rosa, Genuardi Maurizio   +7 more
doaj   +1 more source

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

Genetics in Medicine, 2018
Some 10% of familial adenomatous polyposis (FAP) and 80% of attenuated polyposis (AFAP) cases remain molecularly unexplained. We scrutinized such cases by exome-wide and targeted methods to search for novel susceptibility genes.
A. Olkinuora, T. Nieminen, Emma Mårtensson, A. Rohlin, A. Ristimäki, L. Koskenvuo, A. Lepistö, Gustav Ekaterina Christos Theofanis Mef Åke Silander Kuchinskaya Aravidis Zagoras Nilbert Borg, Gustav Silander, Ekaterina Kuchinskaya, Christos Aravidis, T. Zagoras, M. Nilbert, Å. Borg, S. Gebre-Medhin, M. Nordling, P. Peltomäki   +16 more
semanticscholar   +1 more source

Lymphoid Polyposis Associated with Familial Polyposis and Gardnerʼs Syndrome

Annals of Surgery, 1974
This report describes a family with familial polyposis and lymphoid polyps in which a single member exhibits features of Gardner's Syndrome. A review of the literature pertaining to the simultaneous occurrence of lymphoid polyposis with Gardner's Syndrome and familial polyposis is presented. The importance of histologic diagnosis is stressed.
L N, Shull, C T, Fitts
openaire   +3 more sources