Works matching Hereditary polyposis syndromes

Results: 284

Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

Published in:

Colorectal Disease, 2010, v. 12, n. 6, p. 570, doi. 10.1111/j.1463-1318.2009.01931.x

By:

O'Riordan, J. M.;
O'Donoghue, D.;
Green, A.;
Keegan, D.;
Hawkes, L. A.;
Payne, S. J.;
Sheahan, K.;
Winter, D. C.

Publication type:

Article

Germline Bone Morphogenesis Protein Receptor 1A Mutation Causes Colorectal Tumorigenesis in Hereditary Mixed Polyposis Syndrome.

Published in:

American Journal of Gastroenterology (Springer Nature), 2009, v. 104, n. 12, p. 3027, doi. 10.1038/ajg.2009.542

By:

Peh Yean Cheah;
Yu Hui Wong;
Yuk Ping Chau;
Carol Loi;
Kiat Hon Lim;
Jit Fong Lim;
Poh Koon Koh;
Kong Weng Eu

Publication type:

Article

A prospective study of the clinical, genetic, screening, and pathologic features of a family with hereditary mixed polyposis syndrome

Published in:

American Journal of Gastroenterology (Springer Nature), 2003, v. 98, n. 10, p. 2317, doi. 10.1111/j.1572-0241.2003.07714.x

By:

Rozen, P.;
Samuel, Z.;
Brazowski, E.

Publication type:

Article

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.

Published in:

Nature Genetics, 2012, v. 44, n. 6, p. 699, doi. 10.1038/ng.2263

By:

Jaeger, Emma;
Leedham, Simon;
Lewis, Annabelle;
Segditsas, Stefania;
Becker, Martin;
Cuadrado, Pedro Rodenas;
Davis, Hayley;
Kaur, Kulvinder;
Heinimann, Karl;
Howarth, Kimberley;
East, James;
Taylor, Jenny;
Thomas, Huw;
Tomlinson, Ian

Publication type:

Article

The pathology of hereditary polyposis syndromes.

Published in:

Histopathology, 2015, v. 66, n. 1, p. 78, doi. 10.1111/his.12590

By:

Novelli, Marco

Publication type:

Article

Optical coherence tomography and angiography features of pigmented ocular fundus lesions in hereditary colonic polyposis syndrome.

Published in:

2022

By:

Sagar, Pradeep;
Divya, Pagidimarri;
Biswal, Suchitra;
Ravishankar, H;
Pawar, Rashmi;
Ravishankar, H N

Publication type:

journal article

Clinical Assessment and Genetic Testing for Hereditary Polyposis Syndromes in an Italian Cohort of Patients with Colorectal Polyps.

Published in:

Cancers, 2024, v. 16, n. 21, p. 3617, doi. 10.3390/cancers16213617

By:

Fasano, Candida;
Cariola, Filomena;
Forte, Giovanna;
Buonadonna, Antonia Lucia;
Sanese, Paola;
Manghisi, Andrea;
Lepore Signorile, Martina;
De Marco, Katia;
Grossi, Valentina;
Disciglio, Vittoria;
Simone, Cristiano

Publication type:

Article

Re-recognition of BMPR1A-related polyposis: beyond juvenile polyposis and hereditary mixed polyposis syndrome.

Published in:

Gastroenterology Report, 2023, v. 11, p. 1, doi. 10.1093/gastro/goac082

By:

Zhao, Zi-Ye;
Lei, Ye;
Wang, Zhao-Ming;
Han, Huan;
Xing, Jun-Jie;
Xu, Xiao-Dong;
Gao, Xian-Hua;
Zhang, Wei;
Yu, En-Da

Publication type:

Article

A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome.

Published in:

Japanese Journal of Clinical Oncology, 2020, v. 50, n. 7, p. 826, doi. 10.1093/jjco/hyaa059

By:

Miyahara, Yosuke;
Ishida, Hideyuki;
Kawabe, Koichi;
Eto, Hiroyuki;
Kasai, Toyotaka;
Ito, Tetsuya;
Kaneko, Kou;
Arai, Motohiro;
Kamae, Nao;
Momose, Shuji;
Eguchi, Hidetaka;
Okazaki, Yasushi

Publication type:

Article

Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis.

Published in:

2014

By:

Mazzucco, Sara;
Benini, Luigi;
Gallione, Carol;
D'Adamo, Pio;
Girelli, Domenico

Publication type:

Letter

Guidelines on Management of Hereditary Polyposis Syndromes in Pediatric Patients: Agreement, Disagreement and Where It Matters.

Published in:

Gastrointestinal Disorders, 2025, v. 7, n. 1, p. 1, doi. 10.3390/gidisord7010001

By:

Hudson, Taina;
Phen, Claudia;
Rojas, Isabel;
Cohen, Shlomi;
Hyer, Warren;
Attard, Thomas

Publication type:

Article

Capsule endoscopy in small-bowel surveillance of patients with hereditary polyposis syndromes.

Published in:

International Journal of Colorectal Disease, 2010, v. 25, n. 11, p. 1377, doi. 10.1007/s00384-010-0982-x

By:

Günther, Ute;
Bojarski, Christian;
Buhr, Heinz-Johannes;
Zeitz, Martin;
Heller, Frank

Publication type:

Article

Danish guidelines for management of non-APC-associated hereditary polyposis syndromes.

Published in:

Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00197-8

By:

Jelsig, Anne Marie;
Karstensen, John Gásdal;
Jespersen, Niels;
Ketabi, Zohreh;
Lautrup, Charlotte;
Rønlund, Karina;
Sunde, Lone;
Wadt, Karin;
Thorlacius-Ussing, Ole;
Qvist, Niels

Publication type:

Article

Feasibility and Diagnostic Utility of Video Capsule Endoscopy for the Detection of Small Bowel Polyps in Patients with Hereditary Polyposis Syndromes.

Published in:

American Journal of Gastroenterology (Springer Nature), 2005, v. 100, n. 1, p. 27, doi. 10.1111/j.1572-0241.2005.40102.x

By:

Schulmann, Karsten;
Hollerbach, Stephan;
Kraus, Katja;
Willert, Jörg;
Vogel, Tilman;
Möslein, Gabriela;
Pox, Christian;
Reiser, Markus;
Reinacher-Schick, Anke;
Schmiegel, Wolff

Publication type:

Article

Hereditary Hamartomatous Gastrointestinal Polyposis Syndrome.

Published in:

Acta Facultatis Medicae Naissensis, 2010, v. 27, n. 2, p. 93

By:

Živković, Vesna;
Pejović, Svetlana;
Nagorni, Aleksandar;
Petrović, Bratislav;
Petrović, Aleksandar;
Ilić, Ivan

Publication type:

Article

Mismatch repair and the hereditary non-polyposis colorectal cancer syndrome (HNPCC).

Published in:

2002

By:

Müller, Annegret;
Fishel, Richard

Publication type:

journal article

Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes–Considerations for Future Studies.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8757, doi. 10.3390/ijms21228757

By:

te Paske, Iris B. A. W.;
Ligtenberg, Marjolijn J. L.;
Hoogerbrugge, Nicoline;
de Voer, Richarda M.

Publication type:

Article

Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome.

Published in:

2008

By:

Vickaryous, N;
Polanco-Echeverry, G;
Morrow, S;
Suraweera, N;
Thomas, H;
Tomlinson, I;
Silver, A

Publication type:

journal article

SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience.

Published in:

International Journal of Colorectal Disease, 2020, v. 35, n. 10, p. 1963, doi. 10.1007/s00384-020-03670-3

By:

McDonald, Nicholas M.;
Ramos, Guilherme Piovezani;
Sweetser, Seth

Publication type:

Article

POPULATION-BASED SCREENING FOR HEREDITARY NON-POLYPOSIS COLORECTAL CANCER (LYNCH SYNDROME): THE WESTERN AUSTRALIAN APPROACH.

Published in:

2007

By:

ACOPETTA, BARRY;
LATELL, CAMERON

Publication type:

Editorial

Review article: detection and management of hereditary non-polyposis colorectal cancer (Lynch syndrome).

Published in:

Alimentary Pharmacology & Therapeutics, 2007, v. 26, p. 101, doi. 10.1111/j.1365-2036.2007.03492.x

By:

RAMSOEKH, D.;
VAN LEERDAM, M. E.;
WAGNER, A.;
KUIPERS, E. J.

Publication type:

Article

Distinct PTEN mutationalspectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomascompared to sporadic microsatellite unstable tumors.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 4, p. 445, doi. 10.1093/hmg/11.4.445

By:

Zhou, Xiao-Ping;
Kuismanen, Shannon;
Nystrom-Lahti, Minna;
Peltomaki, Païvi;
Eng, Charis

Publication type:

Article

Detection of DNA mismatch repair proteins in fresh human blood lymphocytes - towards a novel method for hereditary non-polyposis colorectal cancer (Lynch syndrome) screening.

Published in:: Journal of Experimental & Clinical Cancer Research (17569966), 2011, v. 30, n. 1, p. 100, doi. 10.1186/1756-9966-30-100
Publication type:: Article

Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report.

Published in:

2022

By:

Tao, Meng-Yu;
Wang, Kai-Yi;
Li, Xin;
Yu, Chen;
Wan, Qin-Si;
Shu, Xu;
Chen, You-Xiang;
Liao, Wang-Di

Publication type:

Case Study

Aberrant epithelial GREM1 expression initiates colonic tumorigenesis from cells outside the stem cell niche.

Published in:

Nature Medicine, 2015, v. 21, n. 1, p. 62, doi. 10.1038/nm.3750

By:

Davis, Hayley;
Irshad, Shazia;
Bansal, Mukesh;
Rafferty, Hannah;
Boitsova, Tatjana;
Bardella, Chiara;
Jaeger, Emma;
Lewis, Annabelle;
Freeman-Mills, Luke;
Giner, Francesc C;
Rodenas-Cuadrado, Pedro;
Mallappa, Sreelakshmi;
Clark, Susan;
Thomas, Huw;
Jeffery, Rosemary;
Poulsom, Richard;
Rodriguez-Justo, Manuel;
Novelli, Marco;
Chetty, Runjan;
Silver, Andrew

Publication type:

Article

A novel microdeletion syndrome with loss of theMSH2locus and hereditary non-polyposis colorectal cancer.

Published in:

Clinical Genetics, 2005, v. 67, n. 2, p. 178, doi. 10.1111/j.1399-0004.2004.00390.x

By:

Lucci-Cordisco, E.;
Zollino, M.;
Baglioni, S.;
Mancuso, I.;
Lecce, R.;
Gurrieri, F.;
Crucitti, A.;
Papi, L.;
Neri, G.;
Genuardi, M.

Publication type:

Article

Endoscopic Resection of a Large Duodenal Hamartoma Related to SMAD4-Associated Juvenile Polyposis/Hereditary Hemorrhagic Teleangiectasia Syndrome.

Published in:

2011

By:

Zimmer, Vincent;
Grobholz, Rainer;
Lammert, Frank;
Raedle, Jochen

Publication type:

Letter

Reply to "The classification of intestinal polyposis".

Published in:

Nature Genetics, 2013, v. 45, n. 1, p. 2, doi. 10.1038/ng.2475

By:

Tomlinson, Ian;
Jaeger, Emma;
Leedham, Simon;
Thomas, Huw

Publication type:

Article

Reduced expression of alanyl aminopeptidase is a robust biomarker of non‐familial adenomatous polyposis and non‐hereditary nonpolyposis colorectal cancer syndrome early‐onset colorectal cancer.

Published in:

Cancer Medicine, 2023, v. 12, n. 8, p. 10091, doi. 10.1002/cam4.5675

By:

Ha, Ye Jin;
Shin, Yun Jae;
Tak, Ka Hee;
Park, Jong Lyul;
Kim, Jeong Hwan;
Lee, Jong Lyul;
Yoon, Yong Sik;
Kim, Chan Wook;
Kim, Seon Young;
Kim, Jin Cheon

Publication type:

Article

Erratum to: Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes.

Published in:

2010

By:

Poletto, Erica D.;
Trinh, Angela M.;
Levin, Terry L.;
Tsirilakis, Kalliope;
Loizides, Anthony M.

Publication type:

Correction Notice

The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.

Published in:

2010

By:

Aretz S

Publication type:

Journal Article

TOWARDS A RATIONAL STRATEGY FOR THE SURVEILLANCE OF PATIENTS WITH LYNCH SYNDROME (HEREDITARY NON-POLYPOSIS COLON CANCER) FOR UPPER TRACT TRANSITIONAL CELL CARCINOMA.

Published in:

BJU International, 2010, v. 106, n. 3, p. 300, doi. 10.1111/j.1464-410X.2010.09443.x

By:

Acher, Peter;
Kiela, Geraldine;
Thomas, Kay;
O'Brien, Timothy

Publication type:

Article

Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia caused by the SMAD4 gene mutation in a paediatric patient - a case report and a review of the literature.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2021, v. 96, n. 1, p. 71, doi. 10.5114/POLP.2021.104832

By:

Kaps-Kopiec, Dominika;
Pławski, Andrzej;
Badura-Stronka, Magdalena;
Teisseyre, Mikołaj;
Dądalski, Maciej;
Cielecka-Kuszyk, Joanna;
Pawłowska, Joanna

Publication type:

Article

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1498

By:

Aagaard, Katrine S.;
Brusgaard, Klaus;
Miceikaite, Ieva;
Larsen, Martin J.;
Kjeldsen, Anette D.;
Lester, Emilie B.;
Ousager, Lilian B.;
Tørring, Pernille M.

Publication type:

Article

What is the hereditary non-polyposis colorectal cancer syndrome?

Published in:

Clinical & Translational Oncology, 2000, v. 2, n. 4, p. 191, doi. 10.1007/BF02979554

By:

Balmaña, Judith;
Brunet, Joan;
Pericay, Carlos;
Capellà, Gabriel;
Peinado, Miguel;
Blanco, Ignacio;
López, Juan;
Marcuello, Eugenio

Publication type:

Article

Microsatellite Instability in Benign Skin Lesions in Hereditary Non-Polyposis Colorectal Cancer Syndrome.

Published in:

Journal of Investigative Dermatology, 1999, v. 113, n. 6, p. 901, doi. 10.1046/j.1523-1747.1999.00788.x

By:

Swale, Victoria J.;
Quinn, Anthony G.;
Wheeler, James M.;
Beck, Nicholas E.;
Dove-Edwin, Isis;
Thomas, Huw J. W.;
Bodmer, Walter F.;
Bataille, Veronique A.

Publication type:

Article

Digital Clubbing in Hereditary Hemorrhagic Telangiectasia/Juvenile Polyposis Syndrome.

Published in:

Acta Dermatovenerologica Croatica, 2021, v. 29, n. 1, p. 56

By:

Mrzljak, Anna;
Popić, Jelena;
Bulić, Suzana Ožanić

Publication type:

Article

Preventive surgery for colon cancer in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer syndrome.

Published in:

Langenbeck's Archives of Surgery, 2003, v. 388, n. 1, p. 9, doi. 10.1007/s00423-003-0364-8

By:

Möslein, Gabriela;
Pistorius, Steffen;
Saeger, Hans-Detlev;
Schackert, Hans K.

Publication type:

Article

Case-control study of candidate gene methylation and adenomatous polyp formation.

Published in:

International Journal of Colorectal Disease, 2017, v. 32, n. 2, p. 183, doi. 10.1007/s00384-016-2688-1

By:

Alexander, M.;
Burch, J.;
Steck, S.;
Chen, C.-F.;
Hurley, T.;
Cavicchia, P.;
Shivappa, N.;
Guess, J.;
Zhang, H.;
Youngstedt, S.;
Creek, K.;
Lloyd, S.;
Jones, K.;
Hébert, J.

Publication type:

Article

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 11, p. 1303, doi. 10.1093/hmg/11.11.1303

By:

Kariola, Reetta;
Raevaara, Tiina E.;
Lönnqvist, Karin E.;
Nyström-Lahti, Minna

Publication type:

Article

Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome.

Published in:

International Journal of Cancer, 1997, v. 74, n. 5, p. 551, doi. 10.1002/(SICI)1097-0215(19971021)74:5<551::AID-IJC13>3.0.CO;2-9

By:

Aarnio, Markku;
Salovaara, Reijo;
Aaltonen, Lauri A.;
Mecklin, Jukka-Pekka;
Järvinen, Heikki J.

Publication type:

Article

Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (hnpcc) syndrome.

Published in:

International Journal of Cancer, 1995, v. 64, n. 6, p. 430, doi. 10.1002/ijc.2910640613

By:

Aarnio, Markku;
Mecklin, Jukka-Pekka;
Aaltonen, Lauri A.;
Nyström-Lahti, Minna;
Järvinen, Heikki J.

Publication type:

Article

Soft tissue sarcoma and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome: formulation of an hypothesis.

Published in:

Molecular Biology Reports, 2012, v. 39, n. 10, p. 9307, doi. 10.1007/s11033-012-1729-2

By:

Urso, E.;
Agostini, M.;
Pucciarelli, S.;
Bedin, C.;
D'angelo, E.;
Mescoli, C.;
Viel, A.;
Maretto, I.;
Mammi, I.;
Nitti, D.

Publication type:

Article

Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes.

Published in:

Genes, Chromosomes & Cancer, 2024, v. 63, n. 8, p. 1, doi. 10.1002/gcc.23263

By:

Bouras, Ahmed;
Fabre, Aurélie;
Zattara, Hélène;
Handallou, Sandrine;
Desseigne, Françoise;
Kientz, Caroline;
Prieur, Fabienne;
Peysselon, Magalie;
Legrand, Clémentine;
Calavas, Laura;
Saurin, Jean‐Christophe;
Wang, Qing

Publication type:

Article

Risk of cancer death in first-degree relatives of patients with hereditary non-polyposis cancer syndrome (Lynch type II): A study of 130 kindreds in the United Kingdom.

Published in:

British Journal of Surgery, 1990, v. 77, n. 12, p. 1367, doi. 10.1002/bjs.1800771216

By:

Itoh, H.;
Houlston, R. S.;
Harocopos, C.;
Slack, J.

Publication type:

Article

Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions.

Published in:

ANZ Journal of Surgery, 2017, v. 87, n. 12, p. 1006, doi. 10.1111/ans.13483

By:

Kravochuck, Sara E.;
Church, James M.

Publication type:

Article

Hereditary Polyposis Syndromes: Opportunities for early detection in individuals and families.

Published in:

Clinical Journal of Oncology Nursing, 2018, v. 22, n. 2, p. 151, doi. 10.1188/18.CJON.151-156

By:

Mahon, Suzanne M.

Publication type:

Article

Endometrial abnormalities in three sisters from a family with hereditary non-polyposis colorectal cancer syndrome.

Published in:

2003

By:

Fox, Robert

Publication type:

commentary

Endometrial abnormalities in three sisters from a family with hereditary non-polyposis colorectal cancer syndrome

Published in:: 2003
Publication type:: Letter

Endometrial abnormalities in three sisters from a family with hereditary non-polyposis colorectal cancer syndrome

Published in:

2002

By:

Baxter, Niki P.;
Duffy, Sean R.G.;
Sheridan, Eamonn

Publication type:

journal article