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There are 6062 results for: content related to: Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS 2 Mutations

  1. Short trunk stature, brachydactyly, and platyspondyly in three sibs: A new form of brachyolmia or a new skeletal dysplasia?

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 3, 15 June 2003, Pages: 375–380, Beyhan Tüysüz and Savaş Üngür

    Version of Record online : 18 APR 2003, DOI: 10.1002/ajmg.a.20125

  2. Two sibs with brachyolmia type Hobaek: Five year follow-up through puberty

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 1, 1 January 2003, Pages: 80–84, Joe J. Hoo and Michael Oliphant

    Version of Record online : 30 AUG 2002, DOI: 10.1002/ajmg.a.10875

  3. A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly

    Clinical Genetics

    Volume 49, Issue 1, January 1996, Pages: 2–5, Alain Verloes, Paul Jamblin, Lucien Koulischer and Jean-Pierre Bourguignon

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1996.tb04315.x

  4. Brachyolmia and spinal stenosis

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 2, 15 July 2003, Pages: 272–275, Masza Mukamel, Boaz Karmazyn, Liat de Vries, Gadi Horev and Mordechai Shohat

    Version of Record online : 8 APR 2003, DOI: 10.1002/ajmg.a.20204

  5. Spondyloenchondrodysplasia: Clinical variability in three cases

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 2, 15 July 2004, Pages: 185–189, Beyhan Tüysüz, Müjde Arapoglu and Savaş Üngür

    Version of Record online : 21 APR 2004, DOI: 10.1002/ajmg.a.30078

  6. Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1635–1641, Giedre Grigelioniene, Stefan Geiberger, Eva Horemuzova, Eva Moström, Nina Jäntti, Lo Neumeyer, Eva Åström, Magnus Nordenskjöld, Ann Nordgren and Outi Mäkitie

    Version of Record online : 26 MAR 2014, DOI: 10.1002/ajmg.a.36502

  7. Brachyolmia, recessive type (Hobaek): A clinical, radiographic, and histochemical study

    American Journal of Medical Genetics

    Volume 16, Issue 2, October 1983, Pages: 201–211, Dr. William A. Horton, Leonard O. Langer, Debra L. Collins and Carmen Dwyer

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320160210

  8. Studies of microcephalic primordial dwarfism III: An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles—osteodysplastic primordial dwarfism type III

    American Journal of Medical Genetics

    Volume 12, Issue 1, May 1982, Pages: 37–42, Prof. Dr. F. Majewski, M. Stoeckenius, H. Kemperdick and John M. Opitz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320120105

  9. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 1, 15 February 2005, Pages: 61–67, Andreas Zankl, Luitgard Neumann, Jaako Ignatius, Peter Nikkels, Connie Schrander-Stumpel, Geert Mortier, Heymut Omran, Michael Wright, Katja Hilbert, Luisa Bonafé, Juergen Spranger, Bernhard Zabel and Andrea Superti-Furga

    Version of Record online : 10 JAN 2005, DOI: 10.1002/ajmg.a.30531

  10. Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dysplasia

    Clinical Genetics

    Volume 56, Issue 1, July 1999, Pages: 71–76, André Mégarbané, Fady A. Haddad, Soha Haddad-Zebouni, Mitri Achram, Georg Eich, Martine Le Merrer and Andrea Superti-Furga

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560110.x

  11. Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 532–534, D.R. Bertola, R. Antequera, M.J. Rodovalho, R.S. Honjo, L.M.J. Albano, I.M. Furquim, L.A. Oliveira and C.A. Kim

    Version of Record online : 11 FEB 2009, DOI: 10.1002/ajmg.a.32661

  12. Sib pair with previously unreported skeletal dysplasia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 22, 15 November 2008, Pages: 2916–2919, André Mégarbané, Rawane Dagher and Imad Melki

    Version of Record online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32540

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    Clinical and radiographic delineation of odontochondrodysplasia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 6, 15 March 2008, Pages: 770–778, Sheila Unger, Franco Antoniazzi, Milena Brugnara, Yasemin Alanay, Ahmet Caglayan, Katherine Lachlan, Shiro Ikegawa, Gen Nishimura, Bernhard Zabel, Jürgen Spranger and Andrea Superti-Furga

    Version of Record online : 1 FEB 2008, DOI: 10.1002/ajmg.a.32214

  14. Unclassified Osteochondrodystrophies with Extreme Platyspondyly (Report of two cases)

    Australasian Radiology

    Volume 32, Issue 2, May 1988, Pages: 263–268, K. KOZLOWSKI, J. SCOUGALL and A. HOCKEY

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1440-1673.1988.tb02734.x

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    Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 1004–1008, Julie Jurgens, Nara Sobreira, Peggy Modaff, Catherine A. Reiser, Soo Hyun Seo, Moon-Woo Seong, Sung Sup Park, Ok Hwa Kim, Tae-Joon Cho and Richard M. Pauli

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22839

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    X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Pages: 307–312, Nicolas Chassaing, Virginie Siani, Dominique Carles, Anne Lise Delezoide, Eve Marie Alberti, Jacques Battin, Jean François Chateil, Brigitte Gilbert-Dussardier, Isabelle Coupry, Benoit Arveiler, Robert Saura and Didier Lacombe

    Version of Record online : 6 JUL 2005, DOI: 10.1002/ajmg.a.30570

  17. Generalized enchondromatosis in a boy with only platyspondyly in the father

    American Journal of Medical Genetics

    Volume 38, Issue 4, 15 March 1991, Pages: 588–592, Dr. Fahed Halal and E. Michel Azouz

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320380418

  18. Brachyolmia: Radiographic and genetic evidence of heterogeneity

    American Journal of Medical Genetics

    Volume 33, Issue 2, June 1989, Pages: 209–219, M. Shohat, R. Lachman, H. E. Gruber and D. L. Rimoin

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320330214

  19. New form of platyspondylic lethal chondrodysplasia

    American Journal of Medical Genetics

    Volume 66, Issue 4, 30 December 1996, Pages: 464–467, Kazuhiro Akaba, Gen Nishimura, Motoya Hashimoto, Takashi Wakabayashi, Hiroshi Kanasugi and Kiyoshi Hayasaka

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19961230)66:4<464::AID-AJMG16>3.0.CO;2-S

  20. No skeletal dysplasia in the nariokotome boy KNM-WT 15000 (homo erectus)—A reassessment of congenital pathologies of the vertebral column

    American Journal of Physical Anthropology

    Volume 150, Issue 3, March 2013, Pages: 365–374, Regula Schiess and Martin Haeusler

    Version of Record online : 3 JAN 2013, DOI: 10.1002/ajpa.22211