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There are 21602 results for: content related to: ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis

  1. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 333–339, Carol Gallione, Arthur S. Aylsworth, Jill Beis, Terri Berk, Barbara Bernhardt, Robin D. Clark, Carol Clericuzio, Cesare Danesino, Joanne Drautz, Jeffrey Fahl, Zheng Fan, Marie E. Faughnan, Arupa Ganguly, John Garvie, Katharine Henderson, Usha Kini, Tracey Leedom, Mark Ludman, Andreas Lux, Melissa Maisenbacher, Sara Mazzucco, Carla Olivieri, Johannes K. Ploos van Amstel, Nadia Prigoda-Lee, Reed E. Pyeritz, Willie Reardon, Kirk Vandezande, J. Deane Waldman, Robert I. White Jr., Charles A. Williams and Douglas A. Marchuk

    Article first published online : 25 JAN 2010, DOI: 10.1002/ajmg.a.33206

  2. Genetic conditions associated with intestinal juvenile polyps

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 129C, Issue 1, 15 August 2004, Pages: 44–55, Anders Merg and James R. Howe

    Article first published online : 6 JUL 2004, DOI: 10.1002/ajmg.c.30020

  3. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12269

  4. JP–HHT phenotype in Danish patients with SMAD4 mutations

    Clinical Genetics

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

    Article first published online : 21 DEC 2015, DOI: 10.1111/cge.12693

  5. Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations

    Clinical Genetics

    Volume 69, Issue 3, March 2006, Pages: 239–245, L-E Wehner, BJ Folz, L Argyriou, S Twelkemeyer, U Teske, UW Geisthoff, JA Werner, W Engel and K Nayernia

    Article first published online : 12 JAN 2006, DOI: 10.1111/j.1399-0004.2006.00574.x

  6. BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 19, 1 October 2008, Pages: 2551–2556, Christina M. Rigelsky, Constance Jennings, Rainer Lehtonen, Omar A. Minai, Charis Eng and Micheala A. Aldred

    Article first published online : 15 SEP 2008, DOI: 10.1002/ajmg.a.32468

  7. Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1758–1762, Brandie Heald, Christina Rigelsky, Rocio Moran, Lisa LaGuardia, Margaret O'Malley, Carol A. Burke and Kenneth Zahka

    Article first published online : 30 APR 2015, DOI: 10.1002/ajmg.a.37093

  8. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2829–2834, 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 and Robert I. White Jr

    Article first published online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35622

  9. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis

    Clinical Genetics

    Volume 79, Issue 4, April 2011, Pages: 335–344, J McDonald, K Damjanovich, A Millson, W Wooderchak, JM Chibuk, DA Stevenson, F Gedge and P Bayrak-Toydemir

    Article first published online : 16 DEC 2010, DOI: 10.1111/j.1399-0004.2010.01596.x

  10. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 74, Issue 2, August 2008, Pages: 171–177, K Brakensiek, H Frye-Boukhriss, M Mälzer, M Abramowicz, MJ Bahr, N Von Beckerath, C Bergmann, M Caselitz, E Holinski-Feder, P Muschke, K Oexle, G Strobl-Wildemann, G Wolff, EA El-Harith and M Stuhrmann

    Article first published online : 21 MAY 2008, DOI: 10.1111/j.1399-0004.2008.01029.x

  11. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 20, 15 October 2006, Pages: 2155–2162, Pinar Bayrak-Toydemir, Jamie McDonald, Nurten Akarsu, Reha M. Toydemir, Fernanda Calderon, Timur Tuncali, Wei Tang, Franklin Miller and Rong Mao

    Article first published online : 12 SEP 2006, DOI: 10.1002/ajmg.a.31450

  12. You have free access to this content
    Hereditary haemorrhagic telangiectasia

    Haemophilia

    Volume 14, Issue 6, November 2008, Pages: 1269–1280, A. A. SHARATHKUMAR and A. SHAPIRO

    Article first published online : 30 OCT 2008, DOI: 10.1111/j.1365-2516.2008.01774.x

  13. Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia–associated pulmonary hypertension

    European Journal of Clinical Investigation

    Volume 43, Issue 10, October 2013, Pages: 1016–1024, Yan-Jun Chen, Qing-Hui Yang, Dong Liu, Qian-Qian Liu, Mélanie Eyries, Liang Wen, Wen-Hui Wu, Xin Jiang, Ping Yuan, Rui Zhang, Florent Soubrier and Zhi-Cheng Jing

    Article first published online : 6 AUG 2013, DOI: 10.1111/eci.12138

  14. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family

    Clinical Genetics

    Volume 78, Issue 5, November 2010, Pages: 484–489, W Wooderchak, F Gedge, M McDonald, P Krautscheid, X Wang, J Malkiewicz, CJ Bukjiok, T Lewis and P Bayrak-Toydemir

    Article first published online : 27 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01418.x

  15. You have free access to this content
    Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

    Journal of Thrombosis and Haemostasis

    Volume 8, Issue 7, July 2010, Pages: 1447–1456, S. DUPUIS-GIROD, S. BAILLY and H. PLAUCHU

    Article first published online : 19 MAR 2010, DOI: 10.1111/j.1538-7836.2010.03860.x

  16. Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 5, 1 March 2006, Pages: 463–470, Pınar Bayrak-Toydemir, Jamie McDonald, Boaz Markewitz, Susan Lewin, Franklin Miller, Lan-Szu Chou, Friederike Gedge, Wei Tang, Hillary Coon and Rong Mao

    Article first published online : 6 FEB 2006, DOI: 10.1002/ajmg.a.31101

  17. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 185–191, Polakit Teekakirikul, Dianna M. Milewicz, David T. Miller, Ronald V. Lacro, Ellen S. Regalado, Ana Maria Rosales, Daniel P. Ryan, Tomi L. Toler and Angela E. Lin

    Article first published online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35659

  18. A family with juvenile polyposis linked to the BMPR1A locus: Cryptic mutation or closely linked gene?

    Journal of Gastroenterology and Hepatology

    Volume 22, Issue 12, December 2007, Pages: 2292–2297, Elizabeth Chow, Lara Lipton, Luis G Carvajal-Carmona, Gordon Arthur, Prithi Bhathal, Gurjeet Kaur, Emma Jaeger, Kelly Woodford-Richens, Kimberley Howarth, Ian Tomlinson and Finlay Macrae

    Article first published online : 15 JUN 2007, DOI: 10.1111/j.1440-1746.2007.04989.x

  19. The ACVRL1 c.314—35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations

    American Journal of Medical Genetics Part A

    Volume 167, Issue 6, June 2015, Pages: 1262–1267, Ludmila Pawlikowska, Jeffrey Nelson, Diana E. Guo, Charles E. McCulloch, Michael T. Lawton, William L. Young, Helen Kim, Marie E. Faughnan and the Brain Vascular Malformation Consortium HHT Investigator Group

    Article first published online : 2 APR 2015, DOI: 10.1002/ajmg.a.36936

  20. You have free access to this content
    Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers

    Journal of Thrombosis and Haemostasis

    Volume 5, Issue 6, June 2007, Pages: 1149–1157, C. SABBÀ, G. PASCULLI, G. M. LENATO, P. SUPPRESSA, P. LASTELLA, M. MEMEO, F. DICUONZO and G. GUANTI

    Article first published online : 21 MAR 2007, DOI: 10.1111/j.1538-7836.2007.02531.x