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There are 7138 results for: content related to: Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation

  1. Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists

    Clinical Genetics

    Volume 81, Issue 1, January 2012, Pages: 38–46, C Mongin, F Coulet, JH Lefevre, C Colas, M Svrcek, M Eyries, Y Lahely, J-F Fléjou, F Soubrier and Y Parc

    Article first published online : 4 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01676.x

  2. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis

    Clinical Genetics

    Volume 75, Issue 1, January 2009, Pages: 79–85, D Calva-Cerqueira, S Chinnathambi, B Pechman, J Bair, J Larsen-Haidle and JR Howe

    Article first published online : 24 SEP 2008, DOI: 10.1111/j.1399-0004.2008.01091.x

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

    Clinical Genetics

    Volume 81, Issue 2, February 2012, Pages: 110–116, FS Dahdaleh, JC Carr, D Calva and JR Howe

    Article first published online : 6 SEP 2011, DOI: 10.1111/j.1399-0004.2011.01763.x

  4. You have free access to this content
    Genotype-defined cancer risk in juvenile polyposis syndrome

    British Journal of Surgery

    Volume 102, Issue 1, January 2015, Pages: 114–118, E. Aytac, B. Sulu, B. Heald, M. O'Malley, L. LaGuardia, F. H. Remzi, M. F. Kalady, C. A. Burke and J. M. Church

    Article first published online : 12 NOV 2014, DOI: 10.1002/bjs.9693

  5. Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2

    Clinical Genetics

    Volume 78, Issue 2, August 2010, Pages: 162–168, S Alliman, J Coppinger, J Marcadier, H Thiese, P Brock, S Shafer, C Weaver, A Asamoah, K Leppig, S Dyack, B Morash, R Schultz, BS Torchia, AN Lamb and BA Bejjani

    Article first published online : 9 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01373.x

  6. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

    Clinical Genetics

    Volume 74, Issue 2, August 2008, Pages: 145–154, FH Menko, CMF Kneepkens, N De Leeuw, EAJ Peeters, L Van Maldergem, EJ Kamsteeg, R Davidson, L Rozendaal, CA Lasham, CMP Peeters-Scholte, MC Jansweijer, Y Hilhorst-Hofstee, JJP Gille, YM Heins, AWM Nieuwint and EA Sistermans

    Article first published online : 28 MAY 2008, DOI: 10.1111/j.1399-0004.2008.01026.x

  7. Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension

    Clinical Genetics

    Volume 77, Issue 3, March 2010, Pages: 280–286, R Hamid, LK Hedges, E Austin, JA Phillips III, JE Loyd and JD Cogan

    Article first published online : 20 JAN 2010, DOI: 10.1111/j.1399-0004.2009.01311.x

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    Conditional deletion of Bmpr1a in differentiated osteoclasts increases osteoblastic bone formation, increasing volume of remodeling bone in mice

    Journal of Bone and Mineral Research

    Volume 26, Issue 10, October 2011, Pages: 2511–2522, Mina Okamoto, Junko Murai, Yuuki Imai, Daisuke Ikegami, Nobuhiro Kamiya, Shigeaki Kato, Yuji Mishina, Hideki Yoshikawa and Noriyuki Tsumaki

    Article first published online : 21 SEP 2011, DOI: 10.1002/jbmr.477

  9. Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 2, 1 October 2005, Pages: 113–117, Adriana Handra-Luca, Christel Condroyer, Céline de Moncuit, Maryline Tepper, Jean-François Fléjou, Gilles Thomas and Sylviane Olschwang

    Article first published online : 8 SEP 2005, DOI: 10.1002/ajmg.a.30897

  10. 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

  11. You have free access to this content
    Bone morphogenetic protein signaling is required in the dorsal neural folds before neurulation for the induction of spinal neural crest cells and dorsal neurons

    Developmental Dynamics

    Volume 240, Issue 4, April 2011, Pages: 755–765, Rolf W. Stottmann and John Klingensmith

    Article first published online : 10 MAR 2011, DOI: 10.1002/dvdy.22579

  12. The brachydactylies: a molecular disease family

    Clinical Genetics

    Volume 76, Issue 2, August 2009, Pages: 123–136, S Mundlos

    Article first published online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01238.x

  13. 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

    Article first published online : 13 JUL 2011, DOI: 10.1111/j.1399-0004.2011.01727.x

  14. You have free access to this content
    Wnt inhibitors Dkk1 and Sost are downstream targets of BMP signaling through the type IA receptor (BMPRIA) in osteoblasts

    Journal of Bone and Mineral Research

    Volume 25, Issue 2, February 2010, Pages: 200–210, Nobuhiro Kamiya, Tatsuya Kobayashi, Yoshiyuki Mochida, Paul B Yu, Mitsuo Yamauchi, Henry M Kronenberg and Yuji Mishina

    Article first published online : 14 DEC 2009, DOI: 10.1359/jbmr.090806

  15. Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

    Clinical Genetics

    Volume 81, Issue 6, June 2012, Pages: 542–554, M Iascone, R Ciccone, L Galletti, D Marchetti, F Seddio, AR Lincesso, L Pezzoli, A Vetro, D Barachetti, L Boni, D Federici, AM Soto, JV Comas, P Ferrazzi and O Zuffardi

    Article first published online : 25 APR 2011, DOI: 10.1111/j.1399-0004.2011.01674.x

  16. You have free access to this content
    Bone Morphogenetic Protein Signaling Inhibits Hair Follicle Anagen Induction by Restricting Epithelial Stem/Progenitor Cell Activation and Expansion

    STEM CELLS

    Volume 24, Issue 12, December 2006, Pages: 2826–2839, Jiwang Zhang, Xi C. He, Wei-Gang Tong, Teri Johnson, Leanne M. Wiedemann, Yuji Mishina, Jian Q. Feng and Linheng Li

    Article first published online : 7 SEP 2006, DOI: 10.1634/stemcells.2005-0544

  17. Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 73, Issue 4, April 2008, Pages: 320–330, M Shoukier, U Teske, A Weise, W Engel and L Argyriou

    Article first published online : 26 FEB 2008, DOI: 10.1111/j.1399-0004.2008.00968.x

  18. Dual requirement of ectodermal Smad4 during AER formation and termination of feedback signaling in mouse limb buds

    genesis

    Volume 51, Issue 9, September 2013, Pages: 660–666, Jean-Denis Benazet and Rolf Zeller

    Article first published online : 16 JUL 2013, DOI: 10.1002/dvg.22412

  19. History of genetics through philately – deafness

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 417–420, SM Nikkel and AE Chudley

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600603.x

  20. Landmarks in genetics through philately: the tools used by dysmorphologists

    Clinical Genetics

    Volume 63, Issue 2, February 2003, Pages: 105–108, AE Chudley

    Article first published online : 10 MAR 2003, DOI: 10.1034/j.1399-0004.2003.00030.x