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There are 17711 results for: content related to: Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations

  1. 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

    Version of Record online : 3 OCT 2013, DOI: 10.1111/cge.12269

  2. 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

    Version of Record online : 15 SEP 2008, DOI: 10.1002/ajmg.a.32468

  3. 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

    Version of Record online : 6 FEB 2006, DOI: 10.1002/ajmg.a.31101

  4. 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

    Version of Record online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35622

  5. 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

    Version of Record online : 2 APR 2015, DOI: 10.1002/ajmg.a.36936

  6. 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

    Version of Record online : 21 MAY 2008, DOI: 10.1111/j.1399-0004.2008.01029.x

  7. Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1269–1278, Amy Østertun Geirdal, Sinan Dheyauldeen, Gregor Bachmann-Harildstad and Ketil Heimdal

    Version of Record online : 23 APR 2012, DOI: 10.1002/ajmg.a.35309

  8. You have free access to this content
    Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences


    Volume 48, Issue 5, November 2008, Pages: 1570–1576, Rodica Gincul, Gaetan Lesca, Bénédicte Gelas-Dore, Nathalie Rollin, Martine Barthelet, Sophie Dupuis-Girod, Franck Pilleul, Sophie Giraud, Henri Plauchu and Jean-Christophe Saurin

    Version of Record online : 9 JUL 2008, DOI: 10.1002/hep.22514

  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

    Version of Record online : 16 DEC 2010, DOI: 10.1111/j.1399-0004.2010.01596.x

  10. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension

    Clinical Genetics

    Volume 82, Issue 2, August 2012, Pages: 173–179, M Eyries, F Coulet, B Girerd, D Montani, M Humbert, P Lacombe, T Chinet, L Gouya, J Roume, MM Axford, CE Pearson and F Soubrier

    Version of Record online : 13 JUL 2011, DOI: 10.1111/j.1399-0004.2011.01727.x

  11. Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 461–466, Marco W.F. van Gent, Sebastiaan Velthuis, Martijn C. Post, Repke J. Snijder, Cornelis J.J. Westermann, Tom G.W. Letteboer and Johannes J. Mager

    Version of Record online : 8 FEB 2013, DOI: 10.1002/ajmg.a.35715

  12. 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

    Version of Record online : 30 APR 2015, DOI: 10.1002/ajmg.a.37093

  13. Hereditary haemorrhagic telangiectasia, an Australian cohort: clinical and investigative features

    Internal Medicine Journal

    Volume 44, Issue 7, July 2014, Pages: 639–644, M. Salaria, J. Taylor, M. Bogwitz and I. Winship

    Version of Record online : 7 JUL 2014, DOI: 10.1111/imj.12457

  14. Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1

    Clinical Genetics

    Volume 89, Issue 2, February 2016, Pages: 182–186, K. Heimdal, B. Dalhus, O.K. Rødningen, M. Kroken, K. Eiklid, S. Dheyauldeen, T. Røysland, R. Andersen and M.A. Kulseth

    Version of Record online : 5 JUN 2015, DOI: 10.1111/cge.12612

  15. Genotype–phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 21, 1 November 2008, Pages: 2733–2739, Tom G.W. Letteboer, Hans-Jurgen Mager, Repke J. Snijder, Dick Lindhout, Hans-Kristian Ploos van Amstel, Pieter Zanen and Kees J.J. Westermann

    Version of Record online : 1 OCT 2008, DOI: 10.1002/ajmg.a.32243

  16. Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers

    Pediatric Pulmonology

    Nurcan Soysal, Mélanie Eyries, Suzanne Verlhac, Virginie Escabasse, Natascha Remus, Aline Tamalet, Jean-Yves Rioux, Stéphanie Franchi-Abella, Manuela Vasile, Sarah Robert, Céline Delestrain, Isabelle Hau, Hubert Ducou-Le Pointe, Florent Soubrier, Marie-France Carette and Ralph Epaud

    Version of Record online : 6 FEB 2017, DOI: 10.1002/ppul.23649

  17. You have free access to this content
    Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

    Human Mutation

    Volume 27, Issue 6, June 2006, Page: 598, Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, Stéphane Pinson, Marie-Jeanne Marion, Emmanuel Babin, Brigitte Gilbert-Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu, Thierry Frébourg, Alain Calender and Sophie Giraud

    Version of Record online : 16 MAY 2006, DOI: 10.1002/humu.9421

  18. 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

    Version of Record online : 12 SEP 2006, DOI: 10.1002/ajmg.a.31450

  19. 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

    Version of Record online : 6 AUG 2013, DOI: 10.1111/eci.12138

  20. 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

    Version of Record online : 27 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01418.x