Works matching Juvenile polyposis syndrome

Results: 182

Carcinosarcoma with choriocarcinomatous and osteosarcomatous differentiation in a patient with juvenile polyposis syndrome.

Published in:

2015

By:

Parra-Medina, Rafael;
López Correa, Patricia;
Jiménez Moreno, Julian;
Moreno Lucero, Paula;
Yaspe, Edgardo;
Polo, Fernando

Publication type:

Case Study

Malignant tumors associated with juvenile polyposis syndrome in Japan.

Published in:

Surgery Today, 2018, v. 48, n. 3, p. 253, doi. 10.1007/s00595-017-1538-2

By:

Ishida, Hideyuki;
Ishibashi, Keiichiro;
Iwama, Takeo

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

A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.

Published in:

Case Reports in Gastrointestinal Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/140616

By:

Johansson, Joel;
Sahin, Christofer;
Pestoff, Rebecka;
Ignatova, Simone;
Forsberg, Pia;
Edsjö, Anders;
Ekstedt, Mattias;
Stenmark Askmalm, Marie

Publication type:

Article

Corrigendum to “Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene”.

Published in:

2017

By:

Ahmed, Amna;
Alsaleem, Badr

Publication type:

Correction Notice

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

Published in:

Frontiers in Oncology, 2023, v. 13, p. 1, doi. 10.3389/fonc.2023.1114097

By:

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

Publication type:

Article

A review of Juvenile Polyposis Syndrome.

Published in:

Journal of Gastroenterology & Hepatology, 2005, v. 20, n. 11, p. 1634, doi. 10.1111/j.1440-1746.2005.03865.x

By:

Chow, Elizabeth;
MacRae, Finlay

Publication type:

Article

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

Published in:

Pediatric Radiology, 2010, v. 40, n. 7, p. 1274, doi. 10.1007/s00247-009-1482-4

By:

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

Publication type:

Article

Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy.

Published in:

Journal of Surgery & Medicine (JOSAM), 2020, v. 4, n. 10, p. 906, doi. 10.28982/josam.729936

By:

Taşkın, idem Gülcü;
Beser, Ömer Faruk;
Kepil, Nuray;
Çetin, Sibel Erdamar;
Çokuğraş, Fügen Çullu;
Erkan, Tülay;
Kutlu, Tufan

Publication type:

Article

Identification of Coding Exon 3 Duplication in the BMPR1A Gene in a Patient with Juvenile Polyposis Syndrome.

Published in:

Japanese Journal of Clinical Oncology, 2014, v. 44, n. 10, p. 1004, doi. 10.1093/jjco/hyu111

By:

Yamaguchi, Junya;
Nagayama, Satoshi;
Chino, Akiko;
Sakata, Ai;
Yamamoto, Noriko;
Sato, Yuri;
Ashihara, Yuumi;
Kita, Mizuho;
Nomura, Sachio;
Ishikawa, Yuichi;
Igarashi, Masahiro;
Ueno, Masashi;
Arai, Masami

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 SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.

Published in:

Japanese Journal of Clinical Oncology, 2023, v. 53, n. 3, p. 275, doi. 10.1093/jjco/hyac189

By:

Kananazawa, Yoshikazu;
Yamada, Takeshi;
Yamaguchi, Tatsuro;
Saito, Yoshinobu;
Kakinuma, Daisuke;
Masuda, Yuka;
Ando, Fumihiko;
Ohashi, Ryuji;
Eguchi, Hidetaka;
Okazaki, Yasushi;
Ishida, Hideyuki;
Yoshida, Hiroshi

Publication type:

Article

Clinical and functional characterisation of the SMAD4 germline variant c.1035C > A in a family with juvenile polyposis syndrome by whole-exome sequencing.

Published in:

2023

By:

Dang, Yuan;
Xu, Qianhui;
Liu, Xiaofang;
Wang, Lie;
Lin, Chen

Publication type:

Case Study

Juvenile polyposis syndrome: A case report.

Published in:

2023

By:

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

Publication type:

Case Study

Juvenile polyposis syndrome with gastric and duodenal polyposis presenting with refractory anemia and protein-leakage gastroenteropathy in a patient with SMAD4 mutation: a case report.

Published in:

2024

By:

Nakamura, Kenya;
Kubota, Koji;
Shimizu, Akira;
Notake, Tsuyoshi;
Ikehara, Tomohiko;
Umemura, Kentaro;
Kamachi, Atsushi;
Goto, Takamune;
Tomida, Hidenori;
Takahashi, Yoshiyuki;
Nagaya, Tadanobu;
Umemura, Takeji;
Soejima, Yuji

Publication type:

Case Study

Juvenile polyposis syndrome with gastric and duodenal polyposis presenting with refractory anemia and protein-leakage gastroenteropathy in a patient with SMAD4 mutation: a case report.

Published in:

2024

By:

Nakamura, Kenya;
Kubota, Koji;
Shimizu, Akira;
Notake, Tsuyoshi;
Ikehara, Tomohiko;
Umemura, Kentaro;
Kamachi, Atsushi;
Goto, Takamune;
Tomida, Hidenori;
Takahashi, Yoshiyuki;
Nagaya, Tadanobu;
Umemura, Takeji;
Soejima, Yuji

Publication type:

Case Study

Gastrointestinal Bleeding in the Setting of Juvenile Polyposis Syndrome Due to SMAD4 Mutation.

Published in:

American Surgeon, 2023, v. 89, n. 7, p. 3328, doi. 10.1177/00031348231157898

By:

Smith, Paula Marincola;
Tan, Marcus C.

Publication type:

Article

JP-HHT phenotype in Danish patients with SMAD4 mutations.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 55, doi. 10.1111/cge.12693

By:

Jelsig, A. M.;
Tørring, P. M.;
Kjeldsen, A. D.;
Qvist, N.;
Bojesen, A.;
Jensen, U. B.;
Andersen, M. K.;
Gerdes, A. M.;
Brusgaard, K.;
Ousager, L. B.

Publication type:

Article

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01135-6

By:

Liu, Qing;
Liu, Mengling;
Liu, Tianshu;
Yu, Yiyi

Publication type:

Article

SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome.

Published in:

Hereditary Cancer in Clinical Practice, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s13053-023-00267-z

By:

Cao, Kimberley;
Plazzer, John-Paul;
Macrae, Finlay

Publication type:

Article

Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.

Published in:

Hereditary Cancer in Clinical Practice, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s13053-023-00255-3

By:

Papadopulos, M. E.;
Plazzer, J. P.;
Macrae, F. A.

Publication type:

Article

Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.

Published in:

Hereditary Cancer in Clinical Practice, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s13053-021-00207-9

By:

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

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

Massive gastric juvenile-type polyposis: a clinicopathological analysis of 22 cases.

Published in:

Histopathology, 2017, v. 70, n. 6, p. 918, doi. 10.1111/his.13149

By:

Gonzalez, Raul S;
Adsay, Volkan;
Graham, Rondell P;
Shroff, Stuti G;
Feely, Michael M;
Drage, Michael G;
Lewin, David N;
Swanson, Eric A;
Yantiss, Rhonda K;
Bağci, Pelin;
Krasinskas, Alyssa M

Publication type:

Article

Prevalence and Incidence of Peutz–Jeghers Syndrome and Juvenile Polyposis Syndrome in Japan: A Nationwide Epidemiological Survey in 2022.

Published in:

Journal of Gastroenterology & Hepatology, 2025, v. 40, n. 2, p. 473, doi. 10.1111/jgh.16839

By:

Matsubara, Yuri;
Nakamura, Yosikazu;
Nakayama, Yoshiko;
Yano, Tomonori;
Ishikawa, Hideki;
Kumagai, Hideki;
Umeno, Junji;
Uchida, Keiichi;
Jimbo, Keisuke;
Yamamoto, Toshiki;
Ishida, Hideyuki;
Suzuki, Okihide;
Okamoto, Koichi;
Kakuta, Fumihiko;
Koike, Yuhki;
Kawasaki, Yuko;
Sakamoto, Hirotsugu

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

A Case of Juvenile Polyposis Syndrome in a 13-year-old: A Case Report.

Published in:

Journal of the Nepal Medical Association, 2023, v. 61, n. 259, p. 274, doi. 10.31729/jnma.8073

By:

Bhandari, Abashesh;
Basnet, Bhupendra Kumar;
Chaudhary, Ashlesha;
Chaudhary, Aashutosh

Publication type:

Article

Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.

Published in:

2020

By:

Gao, Xian Hua;
Li, Juan;
Zhao, Zi Ye;
Xu, Xiao Dong;
Du, Yi Qi;
Yan, Hong Li;
Liu, Lian Jie;
Bai, Chen Guang;
Zhang, Wei

Publication type:

journal article

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

Published in:

Diagnostics (2075-4418), 2022, v. 12, n. 11, p. 2684, doi. 10.3390/diagnostics12112684

By:

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

Publication type:

Article

Clinical and Molecular Characterization of SMAD4 Splicing Variants in Patients with Juvenile Polyposis Syndrome.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7939, doi. 10.3390/ijms25147939

By:

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

Publication type:

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

FOCAD Indel in a Family With Juvenile Polyposis Syndrome.

Published in:

2022

By:

MacFarland, Suzanne P.;
Xie, Hongbo;
Dent, Maiah H.;
Greed, Bridgid;
Plon, Sharon E.;
Scollon, Sarah R.;
Brodeur, Garrett M.;
Howe, James R.

Publication type:

journal article

Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.

Published in:

2017

By:

Jackson, Samuel;
Villano, Nicholas;
Benhammou, Jihane;
Lewis, Michael;
Pisegna, Joseph;
Padua, David;
Jackson, Samuel B;
Villano, Nicholas P;
Benhammou, Jihane N;
Pisegna, Joseph R

Publication type:

journal article

Rare health conditions 21: Moebius syndrome, juvenile polyposis syndrome, Klippel-Trénaunay syndrome and Milroy disease.

Published in:

British Journal of Healthcare Assistants, 2019, v. 13, n. 3, p. 126, doi. 10.12968/bjha.2019.13.3.126

By:

Barber, Chris

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

Juvenile polyposis syndrome.

Published in:

Journal of Indian Association of Pediatric Surgeons, 2008, v. 13, n. 4, p. 128, doi. 10.4103/0971-9261.44762

By:

Upadhyaya, Vijai D.;
Gangopadhyaya, A. N.;
Sharma, S. P.;
Gopal, S. C.;
Gupta, D. K.;
Kumar, Vijayendra

Publication type:

Article

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

Published in:

Scandinavian Journal of Gastroenterology, 2016, v. 51, n. 9, p. 1118, doi. 10.1080/00365521.2016.1174880

By:

Jelsig, Anne Marie;
Brusgaard, Klaus;
Hansen, Tine Plato;
Qvist, Niels;
Larsen, Martin;
Bojesen, Anders;
Nielsen, Claus Buhl;
Ousager, Lilian Bomme

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

Juvenile Polyposis Syndrome in a Young Girl from Northern Tanzania.

Published in:

Case Reports in Surgery, 2020, p. 1, doi. 10.1155/2020/1536090

By:

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

Publication type:

Article

Genotype-defined cancer risk in juvenile polyposis syndrome.

Published in:

British Journal of Surgery, 2015, v. 102, n. 1, p. 114, doi. 10.1002/bjs.9693

By:

Aytac, E.;
Sulu, B.;
Heald, B.;
O'Malley, M.;
LaGuardia, L.;
Remzi, F. H.;
Kalady, M. F.;
Burke, C. A.;
Church, J. M.

Publication type:

Article

Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2024, v. 79, n. 1, p. 161, doi. 10.1002/jpn3.12257

By:

Cohen, Shlomi;
Yerushalmy‐Feler, Anat;
Rojas, Isabel;
Phen, Claudia;
Rudnick, David A.;
Flahive, Colleen B.;
Erdman, Steven H.;
Magen‐Rimon, Ramit;
Copova, Ivana;
Attard, Thomas;
Latchford, Andrew;
Hyer, Warren

Publication type:

Article

Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A.

Published in:

2007

By:

Kurland, Jayde E;
Beck, Stayce E;
Solomon, Carol J;
Brann, Oscar S;
Carethers, John M;
Huang, Sherry C

Publication type:

journal article

Juvenile Polyposis Syndrome.

Published in:

West Indian Medical Journal, 2010, v. 59, n. 3, p. 306

By:

Whittle, D. O.;
Lee, Michael G.;
Hanchard, B.

Publication type:

Article

Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene.

Published in:

Case Reports in Pediatrics, 2017, p. 1, doi. 10.1155/2017/5321860

By:

Ahmed, Amna;
Alsaleem, Badr

Publication type:

Article

Fatal colorectal cancer in juvenile polyposis syndrome.

Published in:

2002

By:

Hizawa, Kazuoki;
Sakamoto, Kiyoto;
Akagi, Kimihiro;
Kai, Hidenobu;
Yao, Takashi;
Matsumoto, Takayuki;
Iida, Mitsuo

Publication type:

Case Study

Juvenile polyposis syndrome.

Published in:

Clinical Case Reports, 2020, v. 8, n. 1, p. 92, doi. 10.1002/ccr3.2616

By:

Hussain, Tasadooq;
Church, James M.

Publication type:

Article

Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.

Published in:

Annals of Clinical Biochemistry, 2007, v. 44, n. 2, p. 159, doi. 10.1258/000456307780118181

By:

Hatch, Sarah L.;
Trewick, Anne L.;
Payne, Stewart J.

Publication type:

Article

Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23.

Published in:

Clinical Genetics, 2012, v. 81, n. 2, p. 110, doi. 10.1111/j.1399-0004.2011.01763.x

By:

Dahdaleh, FS;
Carr, JC;
Calva, D;
Howe, JR

Publication type:

Article

Mutations in DPC4 (SMAD4) Cause Juvenile Polyposis Syndrome, But Only Account for a Minority of Cases.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 12, p. 1907, doi. 10.1093/hmg/7.12.1907

By:

Houlston, Richard;
Bevan, Stephen;
Williams, Andrew;
Young, Joanne;
Dunlop, Malcolm;
Rozen, Paul;
Eng, Charis;
Markie, David;
Woodford-Richens, Kelly;
Rodriguez-Bigas, Miguel A.;
Leggett, Barbara;
Neale, Kay;
Phillips, Robin;
Sheridan, Eamon;
Hodgson, Shirley;
Iwama, Takeo;
Eccles, Diana;
Bodmer, Walter;
Tomlinson, Ian

Publication type:

Article

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 12, p. 1907, doi. 10.1093/hmg/7.12.1907

By:

Houlston, Richard;
Bevan, Stephen;
Williams, Andrew;
Young, Joanne;
Dunlop, Malcolm;
Rozen, Paul;
Eng, Charis;
Markie, David;
Woodford‐Richens, Kelly;
Rodriguez‐Bigas, Miguel A.;
Leggett, Barbara;
Neale, Kay;
Phillips, Robin;
Sheridan, Eamon;
Hodgson, Shirley;
Iwama, Takeo;
Eccles, Diana;
Bodmer, Walter;
Tomlinson, Ian

Publication type:

Article