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Items: 1 to 20 of 212

1.
ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes
Sapna Syngal, Randall E. Brand, James M. Church, Francis M. Giardiello, Heather L. Hampel, Randall W. Burt
Am J Gastroenterol. Author manuscript; available in PMC 2015 Dec 30.
Published in final edited form as: Am J Gastroenterol. 2015 Feb; 110(2): 223–263. Published online 2015 Feb 3. doi: 10.1038/ajg.2014.435
PMCID:
PMC4695986
ArticlePDF–879K
2.
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
Anne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, Niels Qvist, Lise-Lotte Christensen, Charlotte Kvist Lautrup, Ken Ljungmann, Louise Torp Christensen, Karina Rønlund, Pernille Mathiesen Tørring, Birgitte Bertelsen, Lone Sunde, John Gásdal Karstensen
Fam Cancer. 2023; 22(4): 429–436. Published online 2023 Jun 24. doi: 10.1007/s10689-023-00338-z
PMCID:
PMC10542306
ArticlePDF–1013K
3.
Hamartomatous polyps: Diagnosis, surveillance, and management
Leva Gorji, Peter Albrecht
World J Gastroenterol. 2023 Feb 28; 29(8): 1304–1314. Published online 2023 Feb 28. doi: 10.3748/wjg.v29.i8.1304
PMCID:
PMC10011967
ArticlePDF–462K
4.
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Francesca Rebuzzi, Paola Ulivi, Gianluca Tedaldi
Int J Mol Sci. 2023 Feb; 24(3): 2137. Published online 2023 Jan 21. doi: 10.3390/ijms24032137
PMCID:
PMC9916931
ArticlePDF–439K
5.
Loss of bone morphogenetic protein signaling in fibroblasts results in CXCL12-driven serrated polyp development
Sarah Ouahoud, Barbara Florien Westendorp, Philip Willen Voorneveld, Subinuer Abudukelimu, Pim Johan Koelink, Elena Pascual Garcia, Jessica Flora Isabella Buuren, Tom Jacob Harryvan, Kristiaan Jan Lenos, Tom van Wezel, Johan Arnold Offerhaus, Arantza Fariña-Sarasqueta, Stijn Crobach, Marije Slingerland, James Christopher Henry Hardwick, Lukas Jacobus Antonius Christiaan Hawinkels
J Gastroenterol. 2023; 58(1): 25–43. Published online 2022 Nov 3. doi: 10.1007/s00535-022-01928-x
PMCID:
PMC9825358
ArticlePDF–20M
6.
Strong Hereditary Predispositions to Colorectal Cancer
Szymon Hryhorowicz, Marta Kaczmarek-Ryś, Emilia Lis-Tanaś, Jakub Porowski, Marcin Szuman, Natalia Grot, Alicja Kryszczyńska, Jacek Paszkowski, Tomasz Banasiewicz, Andrzej Pławski
Genes (Basel) 2022 Dec; 13(12): 2326. Published online 2022 Dec 10. doi: 10.3390/genes13122326
PMCID:
PMC9777620
ArticlePDF–1.0M
7.
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants
Andrea Mafficini, Lodewijk A. A. Brosens, Maria L. Piredda, Cristian Conti, Paola Mattiolo, Giulia Turri, Maria G. Mastrosimini, Sara Cingarlini, Stefano F. Crinò, Matteo Fassan, Paola Piccoli, Michele Simbolo, Alessia Nottegar, Rita T. Lawlor, Alfredo Guglielmi, Aldo Scarpa, Corrado Pedrazzani, Claudio Luchini
Fam Cancer. 2022; 21(4): 441–451. Published online 2022 Jan 25. doi: 10.1007/s10689-022-00289-x
PMCID:
PMC9636285
ArticlePDF–1.2M
8.
Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers
Guy Rosner, Yael Petel-Galil, Ido Laish, Zohar Levi, Revital Kariv, Hana Strul, Ophir Gilad, Nathan Gluck
Clin Transl Gastroenterol. 2022 Oct; 13(10): e00527. Published online 2022 Aug 31. doi: 10.14309/ctg.0000000000000527
PMCID:
PMC9624493
ArticlePDF–558K
9.
Phenotypic differences in Juvenile Polyposis Syndrome with or without a disease-causing SMAD4/BMPR1A variant
Suzanne P. MacFarland, Jessica E. Ebrahimzadeh, Kristin Zelley, Lubna Begum, Lee M. Bass, Randall E. Brand, Beth Dudley, Douglas S. Fishman, Amanda Ganzak, Eve Karloski, Alicia Latham, Xavier Llor, Sharon Plon, Mary K. Riordan, Sarah R. Scollon, Zsofia K. Stadler, Sapna Syngal, Chinedu Ukaegbu, Jennifer M. Weiss, Matthew B. Yurgelun, Garrett M. Brodeur, Petar Mamula, Bryson W. Katona
Cancer Prev Res (Phila) Author manuscript; available in PMC 2021 Oct 31.
Published in final edited form as: Cancer Prev Res (Phila). 2021 Feb; 14(2): 215–222. Published online 2020 Oct 23. doi: 10.1158/1940-6207.CAPR-20-0348
PMCID:
PMC8557953
ArticlePDF–588K
10.
SMAD4 Germline Pathogenic Variant-Related Gastric Juvenile Polyposis with Adenocarcinoma Treated with Laparoscopic Total Gastrectomy: A Case Report
Yuya Sakurai, Satoru Kikuchi, Kunitoshi Shigeyasu, Yoshihiko Kakiuchi, Takehiro Tanaka, Hibiki Umeda, Masaki Sakamoto, Sho Takeda, Shuya Yano, Mashu Futagawa, Fumino Kato, Reimi Sogawa, Hideki Yamamoto, Shinji Kuroda, Yoshitaka Kondo, Fuminori Teraishi, Hiroyuki Kishimoto, Masahiko Nishizaki, Shunsuke Kagawa, Akira Hirasawa, Toshiyoshi Fujiwara
Am J Case Rep. 2021; 22: e932241-1–e932241-5. Published online 2021 Jun 18. doi: 10.12659/AJCR.932241
PMCID:
PMC8218883
ArticlePDF–1.1M
11.
SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history
Wendy Chang, Patricia Renaut, Casper Pretorius
BMJ Case Rep. 2020; 13(12): e236855. Published online 2020 Dec 22. doi: 10.1136/bcr-2020-236855
PMCID:
PMC7757541
ArticlePDF–1.9M
12.
Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. Tørring
Mol Genet Genomic Med. 2020 Nov; 8(11): e1498. Published online 2020 Oct 15. doi: 10.1002/mgg3.1498
PMCID:
PMC7667351
ArticlePDF–967K
13.
Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report
Qing Liu, Mengling Liu, Tianshu Liu, Yiyi Yu
BMC Med Genet. 2020; 21: 196. Published online 2020 Oct 8. doi: 10.1186/s12881-020-01135-6
PMCID:
PMC7545562
ArticlePDF–788K
14.
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
Robert Blatter, Benjamin Tschupp, Stefan Aretz, Inge Bernstein, Chrystelle Colas, D. Gareth Evans, Maurizio Genuardi, Frederik J. Hes, Robert Hüneburg, Heikki Järvinen, Fiona Lalloo, Gabriela Moeslein, Laura Renkonen-Sinisalo, Nicoletta Resta, Isabel Spier, Dora Varvara, Hans Vasen, Andrew R. Latchford, Karl Heinimann
Genet Med. 2020; 22(9): 1524–1532. Published online 2020 May 13. doi: 10.1038/s41436-020-0826-1
PMCID:
PMC7462743
ArticlePDF–365K
15.
A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome
Yosuke Miyahara, Hideyuki Ishida, Koichi Kawabe, Hiroyuki Eto, Toyotaka Kasai, Tetsuya Ito, Kou Kaneko, Motohiro Arai, Nao Kamae, Shuji Momose, Hidetaka Eguchi, Yasushi Okazaki
Jpn J Clin Oncol. 2020 Jul; 50(7): 826–829. Published online 2020 May 7. doi: 10.1093/jjco/hyaa059
PMCID:
PMC7345204
ArticlePDF–407K
16.
Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review
Xian Hua Gao, Juan Li, Zi Ye Zhao, Xiao Dong Xu, Yi Qi Du, Hong Li Yan, Lian Jie Liu, Chen Guang Bai, Wei Zhang
BMC Gastroenterol. 2020; 20: 167. Published online 2020 Jun 1. doi: 10.1186/s12876-020-01238-7
PMCID:
PMC7268223
ArticlePDF–7.6M
17.
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
Sari Lieberman, Rachel Beeri, Tom Walsh, Menachem Schechter, Dan Keret, Elizabet Half, Suleyman Gulsuner, Ariela Tomer, Harold Jacob, Shlomi Cohen, Lina Basel-Salmon, Mahmud Mansur, Rachel Berger, Lior H. Katz, Eliahu Golomb, Tamar Peretz, Zohar Levy, Inbal Kedar, Mary-Claire King, Ephrat Levy-Lahad, Yael Goldberg
Clin Transl Gastroenterol. 2019 Jul; 10(7): e00054. Published online 2019 Jul 1. doi: 10.14309/ctg.0000000000000054
PMCID:
PMC6708668
ArticlePDF–344K
18.
BMPR1A mutation–positive juvenile polyposis syndrome and atrial septal defect: coincidence or association?
Rachel E Harris, Richard K Russell
BMJ Case Rep. 2019; 12(6): e229881. Published online 2019 Jun 21. doi: 10.1136/bcr-2019-229881
PMCID:
PMC6605934
ArticlePDF–155K
19.
Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes
Ophir Gilad, Guy Rosner, Naomi Fliss-Isakov, Sivan Aharon-Kaspi, Hana Strul, Nathan Gluck, Revital Kariv
Clin Transl Gastroenterol. 2019 May; 10(5): e00035. Published online 2019 May 17. doi: 10.14309/ctg.0000000000000035
PMCID:
PMC6602765
ArticlePDF–393K
20.
Bone morphogenetic protein receptor signal transduction in human disease
Maria Catalina Gomez‐Puerto, Prasanna Vasudevan Iyengar, Amaya García de Vinuesa, Peter ten Dijke, Gonzalo Sanchez‐Duffhues
J Pathol. 2019 Jan; 247(1): 9–20. Published online 2018 Nov 27. doi: 10.1002/path.5170
PMCID:
PMC6587955
ArticlePDF–1.0M

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