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There are 20825 results for: content related to: Camurati–engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene

  1. You have free access to this content
    The Mechanistic Basis for Sexual Dysfunction in Male Transforming Growth Factor β1 Null Mutant Mice

    Journal of Andrology

    Volume 31, Issue 2, March-April 2010, Pages: 95–107, W. V. Ingman, L. M. McGrath, W. G. Breed, I. F. Musgrave, R. L. Robker and S. A. Robertson

    Version of Record online : 2 JAN 2013, DOI: 10.2164/jandrol.108.006569

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    Fragile X syndrome: From protein function to therapy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2809–2821, Claudia Bagni and Ben A. Oostra

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36241

  3. Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  4. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  5. Embryonic left–right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3095–3114, Kun Ma

    Version of Record online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  6. Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2276–2286, Morten Herlin, Allan T. Højland and Michael B. Petersen

    Version of Record online : 26 JUN 2014, DOI: 10.1002/ajmg.a.36652

  7. Association studies of transforming growth factor-β1 and Alzheimer's disease

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 139B, Issue 1, 5 November 2005, Pages: 38–41, M.R. Dickson, R.T. Perry, H. Wiener and R.C.P. Go

    Version of Record online : 4 AUG 2005, DOI: 10.1002/ajmg.b.30218

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    Type 1 T Helper Cells Induce the Accumulation of Myeloid-Derived Suppressor Cells in the Inflamed Tgfb1 Knockout Mouse Liver

    Hepatology

    Volume 52, Issue 4, October 2010, Pages: 1350–1359, James G. Cripps, Jing Wang, Ann Maria, Ian Blumenthal and James D. Gorham

    Version of Record online : 29 JUL 2010, DOI: 10.1002/hep.23841

  9. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2989–3004, Marco Castori, Silvia Morlino, Claudia Celletti, Giulia Ghibellini, Michela Bruschini, Paola Grammatico, Carlo Blundo and Filippo Camerota

    Version of Record online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

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    Annals of morphology. Atavisms: Phylogenetic lazarus?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2822–2835, Ginevra Zanni and John M. Opitz

    Version of Record online : 8 OCT 2013, DOI: 10.1002/ajmg.a.36234

  11. Autism and epistemology IV: Does autism need a theory of mind?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2464–2480, Gene S. Fisch

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36135

  12. Angelman syndrome in adulthood

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 331–344, Anna M. Larson, Julianna E. Shinnick, Elias A. Shaaya, Elizabeth A. Thiele and Ronald L. Thibert

    Version of Record online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36864

  13. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1882–1896, Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover and Catherine E. Keegan

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36018

  14. Etiologies of uterine malformations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2141–2172, Adeline Jacquinet, Debra Millar and Anna Lehman

    Version of Record online : 8 JUN 2016, DOI: 10.1002/ajmg.a.37775

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    Solving the puzzle of spinal muscular atrophy: What are the missing pieces?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2836–2845, Francesco Danilo Tiziano, Judith Melki and Louise R. Simard

    Version of Record online : 3 OCT 2013, DOI: 10.1002/ajmg.a.36251

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    Historical perspective on developmental concepts and terminology

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2711–2725, John M. Opitz and Giovanni Neri

    Version of Record online : 10 OCT 2013, DOI: 10.1002/ajmg.a.36244

  17. ADAM “sequence” part II: Hypothesis and speculation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 478–503, John M. Opitz, Dennis R. Johnson and Enid F. Gilbert-Barness

    Version of Record online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36937

  18. Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2775–2792, Judith G. Hall

    Version of Record online : 26 AUG 2014, DOI: 10.1002/ajmg.a.36731

  19. Novel alleles of the transforming growth factor β-1 regulatory region and exon 1

    Tissue Antigens

    Volume 85, Issue 6, June 2015, Pages: 484–491, E. Arrieta-Bolaños, J. A. Madrigal and B. E. Shaw

    Version of Record online : 24 MAR 2015, DOI: 10.1111/tan.12555

  20. Epidemiology of fragile X syndrome: A systematic review and meta-analysis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1648–1658, Jessica Hunter, Oliver Rivero-Arias, Angel Angelov, Edward Kim, Iain Fotheringham and Jose Leal

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.a.36511