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Select item 46959861.

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

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Select item 101293552.

Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults―Secondary Publication

Takayuki Matsumoto, Junji Umeno, Keisuke Jimbo, Masami Arai, Itaru Iwama, Hiroshi Kashida, Takahiro Kudo, Koichi Koizumi, Yasushi Sato, Shigeki Sekine, Shinji Tanaka, Kohji Tanakaya, Kazuo Tamura, Keiji Hirata, Suguru Fukahori, Motohiro Esaki, Hideki Ishikawa, Takeo Iwama, Yasushi Okazaki, Yutaka Saito, Nariaki Matsuura, Michihiro Mutoh, Naohiro Tomita, Takashi Akiyama, Toshiki Yamamoto, Hideyuki Ishida, Yoshiko Nakayama

J Anus Rectum Colon. 2023; 7(2): 115–125. Published online 2023 Apr 25. doi: 10.23922/jarc.2023-002

PMCID:: PMC10129355

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Select item 100255673.

A case report of adult juvenile polyposis syndrome with SMAD4 pathogenic variant

Yutong Liu, Zeyu Wang, Zhongyu Zhang, Yuanyuan Sun, Yanyan Zhang, Jiamei Yang

Front Oncol. 2023; 13: 1114097. Published online 2023 Mar 6. doi: 10.3389/fonc.2023.1114097

PMCID:: PMC10025567

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Select item 98108334.

Juvenile polyposis syndrome: A case report

Edwin Mogere, Elijah Mwaura, Mark Waithaka, Victor Mutua, Maurice Mugao, Chris von Csefalvay, Dennis Mukamati

Clin Case Rep. 2023 Jan; 11(1): e6798. Published online 2023 Jan 3. doi: 10.1002/ccr3.6798

PMCID:: PMC9810833

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Select item 97930555.

Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report

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

Therap Adv Gastroenterol. 2022; 15: 17562848221142913. Published online 2022 Dec 22. doi: 10.1177/17562848221142913

PMCID:: PMC9793055

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Select item 96893796.

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

Caterina Micolonghi, Maria Piane, Aldo Germani, Soha Sadeghi, Fabio Libi, Camilla Savio, Marco Fabiani, Rita Mancini, Danilo Ranieri, Antonio Pizzuti, Vito Domenico Corleto, Pasquale Parisi, Vincenzo Visco, Giovanni Di Nardo, Simona Petrucci

Diagnostics (Basel) 2022 Nov; 12(11): 2684. Published online 2022 Nov 4. doi: 10.3390/diagnostics12112684

PMCID:: PMC9689379

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Select item 90226077.

A Rare Case of Juvenile Polyposis Syndrome Mimicking Ménétrier's Disease

Michelle Bernshteyn, Abdul Q Bhutta, Jozsef Bordas, Rohin Mehta, Muhammad Osman Arif

Cureus. 2022 Mar; 14(3): e23389. Published online 2022 Mar 22. doi: 10.7759/cureus.23389

PMCID:: PMC9022607

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Select item 89130188.

Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy

Lisa Dillon Bell, John A. Bernat, Riad Rahhal

Gastroenterology Res. 2022 Feb; 15(1): 33–38. Published online 2022 Jan 10. doi: 10.14740/gr1480

PMCID:: PMC8913018

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Select item 87721019.

Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background

Lior Haim Katz, Rachel Gingold-Belfer, Elez Vainer, Shani Hegger, Ido Laish, Estela Derazne, Ilana Weintraub, Gili Reznick-Levi, Yael Goldberg, Zohar Levi, Shlomi Cohen, Elizabeth E. Half

Hered Cancer Clin Pract. 2022; 20: 2. Published online 2022 Jan 20. doi: 10.1186/s13053-021-00207-9

PMCID:: PMC8772101

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Select item 855795310.

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

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Select item 775754111.

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

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Select item 773801712.

Importance of early detection of juvenile polyposis syndrome: A case report and literature review

Na Shen, Xiong Wang, Yanjun Lu, Fang Xiao, Juan Xiao

Medicine (Baltimore) 2020 Dec 11; 99(50): e23494. Published online 2020 Dec 11. doi: 10.1097/MD.0000000000023494

PMCID:: PMC7738017

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Select item 770415813.

Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease

Talal Almas, Salman Hussain, Reema Alsufyani, Hasan Alaeddin, Muhammad Kashif Khan

Cureus. 2020 Oct; 12(10): e11222. Published online 2020 Oct 28. doi: 10.7759/cureus.11222

PMCID:: PMC7704158

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Select item 766735114.

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

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Select item 754556215.

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

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Select item 746274316.

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

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Select item 726822317.

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

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Select item 707349218.

Juvenile Polyposis Syndrome in a Young Girl from Northern Tanzania

Jay Lodhia, David Msuya, Abdallah Msemo, Huda Akrabi, Patrick Amsi, Deborah Mchaile, Kondo Chilonga

Case Rep Surg. 2020; 2020: 1536090. Published online 2020 Mar 3. doi: 10.1155/2020/1536090

PMCID:: PMC7073492

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Select item 698249419.

Juvenile polyposis syndrome

Tasadooq Hussain, James M. Church

Clin Case Rep. 2020 Jan; 8(1): 92–95. Published online 2019 Dec 19. doi: 10.1002/ccr3.2616

PMCID:: PMC6982494

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Select item 670866820.

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

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