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There are 16448 results for: content related to: Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child

  1. Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings

    American Journal of Medical Genetics

    Volume 113, Issue 4, 15 December 2002, Pages: 351–361, Alison M. Elliott, John M. Graham Jr., Cynthia J.R. Curry, Tuya Pal, David L. Rimoin and Ralph S. Lachman

    Version of Record online : 2 OCT 2002, DOI: 10.1002/ajmg.b.10656

  2. Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood

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

    Volume 169, Issue 4, December 2015, Pages: 314–327, Lucas M. Bronicki, Roger E. Stevenson and Jürgen W. Spranger

    Version of Record online : 4 NOV 2015, DOI: 10.1002/ajmg.c.31466

  3. You have free access to this content
    Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

    Journal of Bone and Mineral Research

    Volume 26, Issue 5, May 2011, Pages: 920–933, Michael P Whyte, William G Totty, Deborah V Novack, Xiafang Zhang, Deborah Wenkert and Steven Mumm

    Version of Record online : 3 MAY 2011, DOI: 10.1002/jbmr.283

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    Lower fracture risk in older men with higher sclerostin concentration: A prospective analysis from the MINOS study

    Journal of Bone and Mineral Research

    Volume 28, Issue 4, April 2013, Pages: 855–864, Pawel Szulc, Cindy Bertholon, Olivier Borel, Francois Marchand and Roland Chapurlat

    Version of Record online : 18 MAR 2013, DOI: 10.1002/jbmr.1823

  5. Hand involvement in Schmid metaphyseal chondrodysplasia

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 2, 15 January 2005, Pages: 191–193, Alison M. Elliott, Fiona M. Field, David L. Rimoin and Ralph S. Lachman

    Version of Record online : 2 DEC 2004, DOI: 10.1002/ajmg.a.30433

  6. Severe neonatal spondylometaphyseal dysplasia in two siblings

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2166–2172, Malwina Czarny-Ratajczak, Krystyna Chrzanowska, Tadeusz Bieganski, Jerzy Sulko, Dobromila Baranska, Beata Kocyla-Karczmarewicz, Lukasz Kuszel, Lucjusz Jakubowski, Kryspin Niedzielski and Kazimierz Kozlowski

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33016

  7. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1381–1386, Aritoshi Iida, Pelin Özlem Simsek-Kiper, Shuji Mizumoto, Touma Hoshino, Nursel Elcioglu, Eva Horemuzova, Stefan Geiberger, Gozde Yesil, Hülya Kayserili, Gülen Eda Utine, Koray Boduroglu, Shigehiko Watanabe, Hirofumi Ohashi, Yasemin Alanay, Kazuyuki Sugahara, Gen Nishimura and Shiro Ikegawa

    Version of Record online : 26 JUL 2013, DOI: 10.1002/humu.22377

  8. Prenatal diagnosis of boomerang dysplasia

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 2, 1 October 2003, Pages: 148–154, Marja W. Wessels, Nicolette S. Den Hollander, Ronald R. De Krijger, Luisa Bonifé, Andrea Superti-Furga, Peter G. Nikkels and Patrick J. Willems

    Version of Record online : 18 JUL 2003, DOI: 10.1002/ajmg.a.20239

  9. The Erlenmeyer flask bone deformity in the skeletal dysplasias

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1334–1345, Maha A. Faden, Deborah Krakow, Fatih Ezgu, David L. Rimoin and Ralph S. Lachman

    Version of Record online : 14 MAY 2009, DOI: 10.1002/ajmg.a.32253

  10. Skeletal Dysplasias, Chondrodysplasias: Disorders of Cartilage Matrix Proteins

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    William A. Horton, Jacqueline T. Hecht, Pages: 909–937, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch23(ii)

  11. Craniometadiaphyseal dysplasia, wormian bone type

    American Journal of Medical Genetics

    Volume 77, Issue 3, 18 May 1998, Pages: 241–245, Jose M. Santolaya, Christine M. Hall, Sixto García-Miñaur and Alfonso Delgado

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980518)77:3<241::AID-AJMG10>3.0.CO;2-G

  12. Camurati-Engelmann disease type II: Progressive diaphyseal dysplasia with striations of the bones

    American Journal of Medical Genetics

    Volume 107, Issue 1, 1 January 2002, Pages: 5–11, Gen Nishimura, Hitoshi Nishimura, Yoko Tanaka, Yoshio Makita, Shiro Ikegawa, Mohsen Ghadami, Akira Kinoshita and Norio Niikawa

    Version of Record online : 25 OCT 2001, DOI: 10.1002/ajmg.10079

  13. Osteomyelitis Associated With Disseminated Blastomycosis in Nine Dogs

    Veterinary Radiology

    Volume 20, Issue 3-6, May 1979, Pages: 124–134, R. E. Roberts

    Version of Record online : 19 MAY 2005, DOI: 10.1111/j.1740-8261.1979.tb01190.x

  14. Progressive hip joint subluxation in Saul-Wilson syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2834–2838, Yasutsugu Chinen, Takuya Kaneshi, Takeshi Kamiya, Kenichiro Hata, Gen Nishimura and Tadashi Kaname

    Version of Record online : 4 AUG 2015, DOI: 10.1002/ajmg.a.37278

  15. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Pages: 287–295, J. Spranger, B.D. Hall, B. Häne, A. Srivastava and R. E. Stevenson

    Version of Record online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<287::AID-AJMG5>3.0.CO;2-G

  16. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia

    American Journal of Medical Genetics

    Volume 95, Issue 5, 18 December 2000, Pages: 482–491, Paula Iughetti, Luis Garcia Alonso, William Wilcox, Nivaldo Alonso and Maria Rita Passos-Bueno

    Version of Record online : 2 JAN 2001, DOI: 10.1002/1096-8628(20001218)95:5<482::AID-AJMG14>3.0.CO;2-X

  17. Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 4, 1 November 2005, Pages: 379–383, K. Szczaluba, K. Hilbert, E. Obersztyn, B. Zabel, T. Mazurczak and K. Kozlowski

    Version of Record online : 12 OCT 2005, DOI: 10.1002/ajmg.a.30969

  18. Kenny–Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant

    American Journal of Medical Genetics

    Volume 42, Issue 1, 1 January 1992, Pages: 112–116, M.D. P. Franceschini, A. Testa, G. Bogetti, E. Girardo, A. Guala, G. Lopez-Bell, G. Buzio, E. Ferrario and E. Piccato

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320420123

  19. Sclerosing Bone Dysplasia from 16th Century Sardinia (Italy): A Possible Case of Camurati–Engelmann Disease

    International Journal of Osteoarchaeology

    V. Giuffra, A. Montella, R. Bianucci, M. Milanese, E. Tognotti, D. Caramella, G. Fornaciari and P. Bandiera

    Version of Record online : 17 AUG 2015, DOI: 10.1002/oa.2484

  20. Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 2, 1 March 2003, Pages: 147–153, Gen Nishimura, Tomomi Honma, Takashi Shiihara, Noriyo Manabe, Eiji Nakajima, Masanori Adachi, Makoto Mikawa, Yoshimitsu Fukushima and Shiro Ikegawa

    Version of Record online : 18 SEP 2002, DOI: 10.1002/ajmg.a.10927