PMC Articles for MedGen (Select 331400) - PMC

Select item 59168061.

Juvenile Idiopathic Arthritis Associated with Combined JP–HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4

Juliet Chhay Bishop, Jacquelyn Francis Britton, Anne M. Murphy, Sangeeta Sule, Sally Mitchell, Clifford Takemoto, Joseph M. Collaco, Wikrom Karnsakul, Carmelo Cuffari, Edith Dietz, Joann Bodurtha

J Pediatr Genet. 2018 Jun; 7(2): 78–82. Published online 2017 Dec 29. doi: 10.1055/s-0037-1609060

PMCID:: PMC5916806

Article PDF–262K

Select item 37191012.

Recurrent Gastrointestinal Hemorrhage in Treatment with Dasatinib in a Patient Showing SMAD4 Mutation with Acute Lymphoblastic Leukemia Philadelphia Positive and Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome

Chiara Sartor, Cristina Papayannidis, Maria Chiara Abbenante, Ilaria Iacobucci, Alessandro Broccoli, Claudia Venturi, Nicoletta Testoni, Anna Ferrari, Giovanni Martinelli

Hematol Rep. 2013 Jun 28; 5(2): 26–27. Published online 2013 Jul 3. doi: 10.4081/hr.2013.e7

PMCID:: PMC3719101

Article PDF–59K

Select item 67774563.

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

Xue-Yan Duan, Dong-chuan Guo, Ellen S. Regalado, Hong Shen, University of Washington Center for Mendelian Genomics, Joseph S. Coselli, Anthony L. Estrera, Hazim J. Safi, Michael J. Bamshad, Deborah A. Nickerson, Scott A. LeMaire, Julie De Backer, Dianna M. Milewicz

Eur J Hum Genet. 2019 Jul; 27(7): 1054–1060. Published online 2019 Feb 26. doi: 10.1038/s41431-019-0357-x

PMCID:: PMC6777456

Article PDF–998K

Select item 63951344.

Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm

Yasunori Inoguchi, Bunji Kaku, Naotaka Kitagawa, Shoji Katsuda

Intern Med. 2019 Feb 1; 58(3): 387–393. Published online 2018 Sep 12. doi: 10.2169/internalmedicine.1287-18

PMCID:: PMC6395134

Article PDF–2.2M

Select item 41255315.

Appreciating the broad clinical features of SMAD4 mutation carriers: a multi-center chart review

K.E. Wain, M.S. Ellingson, J. McDonald, A. Gammon, M. Roberts, P. Pichurin, I. Winship, D. Riegert-Johnson, J. N. Weitzel, N.M. Lindor

Genet Med. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Genet Med. 2014 Aug; 16(8): 588–593. Published online 2014 Feb 13. doi: 10.1038/gim.2014.5

PMCID:: PMC4125531

Article PDF–86K

Select item 38752956.

SMAD4 Haploinsufficiency Associates with Augmented Colonic Inflammation in Select Humans and Mice

Reka Szigeti, Stephanie A. Pangas, Dorottya Nagy-Szakal, Scot E. Dowd, Robert J. Shulman, Anthony P. Olive, Edwina J. Popek, Milton J. Finegold, Richard Kellermayer

Ann Clin Lab Sci. Author manuscript; available in PMC 2013 Dec 30.

Published in final edited form as: Ann Clin Lab Sci. 2012 Fall; 42(4): 401–408.

PMCID:: PMC3875295

Article PDF–791K

Select item 35355137.

Thoracic Aortic Disease in Two Patients with Juvenile Polyposis Syndrome and SMAD4 mutations

Polakit Teekakirikul, Dianna M. Milewicz, David T. Miller, Ronald V. Lacro, Ellen S. Regalado, Ana Maria Rosales, Daniel P. Ryan, Tomi L. Toler, Angela E. Lin

Am J Med Genet A. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Am J Med Genet A. 2013 Jan; 161(1): 185–191. Published online 2012 Dec 13. doi: 10.1002/ajmg.a.35659

PMCID:: PMC3535513

Article PDF–306K

Select item 26030358.

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

S A Abdalla, M Letarte

J Med Genet. 2006 Feb; 43(2): 97–110. doi: 10.1136/jmg.2005.030833

PMCID:: PMC2603035

Article

Select item 25631789.

SMAD4 mutations found in unselected HHT patients

C J Gallione, J A Richards, T G W Letteboer, D Rushlow, N L Prigoda, T P Leedom, A Ganguly, A Castells, J K Ploos van Amstel, C J J Westermann, R E Pyeritz, D A Marchuk

J Med Genet. 2006 Oct; 43(10): 793–797. Published online 2006 Apr 13. doi: 10.1136/jmg.2006.041517

PMCID:: PMC2563178

Article PDF–184K

Select item 1004491310.

Jellyfish Peptide as an Alternative Source of Antioxidant

Lichao Teng, Xueqin Wang, Huahua Yu, Rongfeng Li, Hao Geng, Ronge Xing, Song Liu, Pengcheng Li

Antioxidants (Basel) 2023 Mar; 12(3): 742. Published online 2023 Mar 17. doi: 10.3390/antiox12030742

PMCID:: PMC10044913

Article PDF–3.9M

Select item 979305511.

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

Article PDF–978K

Select item 819300512.

Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene

Ben Kang, Su-Kyeong Hwang, Sujin Choi, Eun Soo Kim, Sang Yub Lee, Chang-Seok Ki, Eun-Hae Cho, Ji-Hyuk Lee, Byung-Ho Choe

Transl Pediatr. 2021 May; 10(5): 1369–1376. doi: 10.21037/tp-21-12

PMCID:: PMC8193005

Article PDF–2.5M

Select item 766735113.

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

Article PDF–967K

Select item 486780714.

Clinical and genetic challenges in a family with history of childhood polyp, aortopathy, and clinical diagnosis of hereditary hemorrhagic teleangiectasia (HHT)

Tanya Kadiyska, Alexander Nossikoff, Pencho Kratunkov, Mary Hachmerian, Ludmila Angelova

Ann Pediatr Cardiol. 2016 May-Aug; 9(2): 176–178. doi: 10.4103/0974-2069.180674

PMCID:: PMC4867807

Article PDF–440K

Select item 1054379915.

Executive summary of the 14th HHT international scientific conference

Roxana Ola, Josefien Hessels, Adrienne Hammill, Cassi Friday, Marianne Clancy, Hanny Al-Samkari, Stryder Meadows, Vivek Iyer, Rosemary Akhurst

Angiogenesis. 2023; 26(Suppl 1): 27–37. Published online 2023 Sep 11. doi: 10.1007/s10456-023-09886-5

PMCID:: PMC10543799

Article PDF–833K

Select item 775754116.

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

Article PDF–1.9M

Select item 746274317.

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

Article PDF–365K

Select item 564126418.

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

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

Dig Dis Sci. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Dig Dis Sci. 2017 Oct; 62(10): 2623–2630. Published online 2017 Aug 23. doi: 10.1007/s10620-017-4719-3

PMCID:: PMC5641264

Article PDF–754K

Select item 369816319.

HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis

Andreas Lux, Ralf Müller, Mark Tulk, Carla Olivieri, Roberto Zarrabeita, Theresia Salonikios, Bernhard Wirnitzer

Orphanet J Rare Dis. 2013; 8: 94. Published online 2013 Jun 27. doi: 10.1186/1750-1172-8-94

PMCID:: PMC3698163

Article PDF–1.6M

Select item 275217620.

High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

S Aretz, D Stienen, S Uhlhaas, M Stolte, M M Entius, S Loff, W Back, A Kaufmann, K‐M Keller, S H Blaas, R Siebert, S Vogt, S Spranger, E Holinski‐Feder, L Sunde, P Propping, W Friedl

J Med Genet. 2007 Nov; 44(11): 702–709. Published online 2007 Sep 14. doi: 10.1136/jmg.2007.052506

PMCID:: PMC2752176

Article PDF–524K

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