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Items: 1 to 20 of 22

1.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
ArticlePubReaderPDF–776KCite
2.
mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion
Henry Taylor, Dilay Yerlioglu, Claudia Phen, Antje Ballauff, Natalia Nedelkopoulou, Isabel Spier, Inés Loverdos, Veronica B Busoni, Jürgen Heise, Peter Dale, Tim de Meij, Kevin Sweet, Marta C Cohen, Victor L Fox, Emmanuel Mas, Stefan Aretz, Charis Eng, Stephan Buderus, Mike Thomson, Isabel Rojas, Holm H Uhlig
Hum Mol Genet. 2021 Jul 15; 30(14): 1273–1282. Published online 2021 Apr 2. doi: 10.1093/hmg/ddab094
PMCID:
PMC8804886
ArticlePubReaderPDF–1.1MCite
3.
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
ArticlePubReaderPDF–588KCite
4.
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
ArticlePubReaderPDF–365KCite
5.
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
ArticlePubReaderPDF–407KCite
6.
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber
Mol Genet Genomic Med. 2019 Nov; 7(11): e969. Published online 2019 Sep 7. doi: 10.1002/mgg3.969
PMCID:
PMC6825850
ArticlePubReaderPDF–1.6MCite
7.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
ArticlePubReaderPDF–960KCite
8.
Overlap of Juvenile Polyposis Syndrome and Cowden Syndrome Due to De Novo Chromosome 10 Deletion Involving BMPR1A and PTEN: Implications for Treatment and Surveillance
Adebisi Alimi, Lauren A. Weeth-Feinstein, Amy Stettner, Freddy Caldera, Jennifer M. Weiss
Am J Med Genet A. Author manuscript; available in PMC 2016 Jun 1.
Published in final edited form as: Am J Med Genet A. 2015 Jun; 167(6): 1305–1308. Published online 2015 Apr 5. doi: 10.1002/ajmg.a.36876
PMCID:
PMC4449295
ArticlePubReaderPDF–766KCite
9.
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
ArticlePubReaderPDF–86KCite
10.
SMAD4 Loss triggers the phenotypic changes of pancreatic ductal adenocarcinoma cells
Yu-Wen Chen, Pi-Jung Hsiao, Ching-Chieh Weng, Kung-Kai Kuo, Tzu-Lei Kuo, Deng-Chyang Wu, Wen-Chun Hung, Kuang-Hung Cheng
BMC Cancer. 2014; 14: 181. Published online 2014 Mar 14. doi: 10.1186/1471-2407-14-181
PMCID:
PMC4007528
ArticlePubReaderPDF–3.0MCite
11.
BMPR1A Mutations in Juvenile Polyposis Affect Cellular Localization
James R. Howe, Fadi S. Dahdaleh, Jennifer C. Carr, Donghong Wang, Scott K. Sherman, James R. Howe
J Surg Res. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: J Surg Res. 2013 Oct; 184(2): 739–745. Published online 2013 Feb 1. doi: 10.1016/j.jss.2013.01.015
PMCID:
PMC3683109
ArticlePubReaderPDF–2.9MCite
12.
Brain Arteriovenous Malformations associated with Hereditary Hemorrhagic Telangiectasia: Gene-Phenotype Correlations
Takeo Nishida, Marie E. Faughnan, Timo Krings, Murali Chakinala, James R. Gossage, William L. Young, Helen Kim, Tony Pourmohamad, Katharine J. Henderson, Stacy D. Schrum, Melissa James, Nancy Quinnine, Aditya Bharatha, Karel G. terBrugge, Robert I. White, Jr.
Am J Med Genet A. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Am J Med Genet A. 2012 Nov; 0(11): 2829–2834. Published online 2012 Sep 18. doi: 10.1002/ajmg.a.35622
PMCID:
PMC3610331
ArticlePubReaderPDF–86KCite
13.
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
ArticlePubReaderPDF–306KCite
14.
Germline Mutations in SMAD4 Disrupt Bone Morphogenetic Protein Signaling
Jennifer C. Carr, Fadi S. Dahdaleh, Donghong Wang, James R. Howe
J Surg Res. Author manuscript; available in PMC 2013 May 15.
Published in final edited form as: J Surg Res. 2012 May 15; 174(2): 211–214. Published online 2011 Nov 30. doi: 10.1016/j.jss.2011.11.008
PMCID:
PMC3418515
ArticlePubReaderPDF–650KCite
15.
Juvenile Polyposis and Other Intestinal Polyposis Syndromes with Microdeletions of Chromosome 10q22-23
Fadi S. Dahdaleh, Jennifer C. Carr, Daniel Calva, James R. Howe
Clin Genet. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Clin Genet. 2012 Feb; 81(2): 110–116. Published online 2011 Sep 6. doi: 10.1111/j.1399-0004.2011.01763.x
PMCID:
PMC3236803
ArticlePubReaderPDF–476KCite
16.
Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis
Daniel Calva-Cerqueira, Fadi S. Dahdaleh, George Woodfield, Sathivel Chinnathambi, Peter L. Nagy, Joy Larsen-Haidle, Ronald J. Weigel, James R. Howe
Hum Mol Genet. 2010 Dec 1; 19(23): 4654–4662. Published online 2010 Sep 14. doi: 10.1093/hmg/ddq396
PMCID:
PMC2972697
ArticlePubReaderPDF–491KCite
17.
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
ArticlePubReaderPDF–524KCite
18.
Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high‐density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function
X Cao, K W Eu, M P Kumarasinghe, H H Li, C Loi, P Y Cheah
J Med Genet. 2006 Mar; 43(3): e13. doi: 10.1136/jmg.2005.034827
PMCID:
PMC2563243
ArticlePubReaderPDF–560KCite
19.
Risk of colorectal cancer in juvenile polyposis
Lodewijk A A Brosens, Arnout van Hattem, Linda M Hylind, Christine Iacobuzio‐Donahue, Katharine E Romans, Jennifer Axilbund, Marcia Cruz‐Correa, Anne C Tersmette, G Johan A Offerhaus, Francis M Giardiello
Gut. 2007 Jul; 56(7): 965–967. Published online 2007 Feb 15. doi: 10.1136/gut.2006.116913
PMCID:
PMC1994351
ArticlePubReaderPDF–201KCite
20.
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations
J Howe, M Sayed, A Ahmed, J Ringold, J Larsen-Haidle, A Merg, F Mitros, C Vaccaro, G Petersen, F Giardiello, S Tinley, L Aaltonen, H Lynch
J Med Genet. 2004 Jul; 41(7): 484–491. doi: 10.1136/jmg.2004.018598
PMCID:
PMC1735829
SummaryPDF–254KCite

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