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There are 36907 results for: content related to: Marked variability in the radiographic features of cartilage-hair hypoplasia: Case report and review of the literature

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    RMRP mutations in cartilage-hair hypoplasia

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2121–2130, Pia Hermanns, Alyssa Tran, Elda Munivez, Susan Carter, Bernhard Zabel, Brendan Lee and Jules G. Leroy

    Article first published online : 12 JUL 2006, DOI: 10.1002/ajmg.a.31331

  2. Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 2013–2017, Alireza Baradaran-Heravi, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F. Boerkoel and Ilkka Kaitila

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32406

  3. Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2370–2375, Mervi Taskinen, Annamari Ranki, Eero Pukkala, Leila Jeskanen, Ilkka Kaitila and Outi Mäkitie

    Article first published online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32478

  4. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

    Clinical Genetics

    Volume 61, Issue 2, February 2002, Pages: 146–151, L Bonafé, K Schmitt, G Eich, A Giedion and A Superti-Furga

    Article first published online : 3 APR 2002, DOI: 10.1034/j.1399-0004.2002.610210.x

  5. The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

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

    Volume 121C, Issue 1, 15 August 2003, Pages: 81–83, Maaret Ridanpää, Pawan Jain, Victor A. Mckusick, Clair A. Francomano and Ilkka Kaitila

    Article first published online : 23 JUN 2003, DOI: 10.1002/ajmg.c.20006

  6. The natural history of severe anemia in cartilage-hair hypoplasia

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 1, 15 September 2005, Pages: 35–40, Marc S. Williams, Robert S. Ettinger, Pia Hermanns, Brendan Lee, Göran Carlsson, Mervi Taskinen and Outi Mäkitie

    Article first published online : 11 AUG 2005, DOI: 10.1002/ajmg.a.30902

  7. RNase MRP and disease

    Wiley Interdisciplinary Reviews: RNA

    Volume 1, Issue 1, July/August 2010, Pages: 102–116, Sandy Mattijssen, Tim J. M. Welting and Ger J. M. Pruijn

    Article first published online : 6 MAY 2010, DOI: 10.1002/wrna.9

  8. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 22, 15 November 2007, Pages: 2675–2681, Eiji Nakashima, Joseph R. Tran, Tim J.M. Welting, Ger J.M. Pruijn, Yuichiro Hirose, Gen Nishimura, Hirofumi Ohashi, Shepherd H. Schurman, Jun Cheng, Fabio Candotti, Ramaiah Nagaraja, Shiro Ikegawa and David Schlessinger

    Article first published online : 15 OCT 2007, DOI: 10.1002/ajmg.a.32053

  9. RMRP mutations in Japanese patients with cartilage-hair hypoplasia

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 3, 15 December 2003, Pages: 253–256, Eiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, Toshikazu Onishi, Junwei Zhang, Hirofumi Ohashi, Gen Nishimura and Shiro Ikegawa

    Article first published online : 13 MAY 2003, DOI: 10.1002/ajmg.a.20281

  10. Radiologic changes in infancy in McKusick cartilage hair hypoplasia

    American Journal of Medical Genetics

    Volume 86, Issue 4, 8 October 1999, Pages: 312–315, Ronald B.J. Glass and Cynthia J. Tifft

    Article first published online : 22 SEP 1999, DOI: 10.1002/(SICI)1096-8628(19991008)86:4<312::AID-AJMG2>3.0.CO;2-8

  11. Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers

    Prenatal Diagnosis

    Volume 15, Issue 2, February 1995, Pages: 135–140, Tuija Sulisalo, David Sillence, Meredith Wilson, Markku Ryynänen and Ilkka Kaitila

    Article first published online : 14 DEC 2005, DOI: 10.1002/pd.1970150205

  12. Anaemia and macrocytosis—unrecognized features in cartilage-hair hypoplasia

    Acta Paediatrica

    Volume 81, Issue 12, December 1992, Pages: 1026–1029, O Mäkitie, J Rajantie and I Kaitila

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1992.tb12168.x

  13. Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene

    Prenatal Diagnosis

    Volume 26, Issue 11, November 2006, Pages: 1018–1020, Albert C. F. Lam, Daniel H. C. Chan, Tony M. F. Tong, Mary H. Y. Tang, Steven Y. F. Lo, Ivan F. M. Lo and Stephen T. S. Lam

    Article first published online : 30 AUG 2006, DOI: 10.1002/pd.1547

  14. Genetics and Genodermatoses

    Rook's Textbook of Dermatology, Eighth Edition

    A. D. Irvine, J. E. Mellerio, Pages: 1–97, 2010

    Published Online : 6 MAY 2010, DOI: 10.1002/9781444317633.ch15

  15. 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)

  16. Aminophylline versus caffeine citrate

    Acta Paediatrica

    Volume 84, Issue 10, October 1995, Page: 1099,

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1995.tb13502.x

  17. Non-alcoholic steatohepatitis in a child with cartilage-hair hypoplasia syndrome

    Hepatology Research

    Volume 37, Issue 11, November 2007, Pages: 984–987, Inderpal Randhawa, Donald Janner, Craig Zuppan and George Yanni

    Article first published online : 30 JUN 2007, DOI: 10.1111/j.1872-034X.2007.00153.x

  18. A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1865–1870, André Mégarbané, Eliane Chouery and Ismat Ghanem

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32390

  19. Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations—findings in 10 patients

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 241–248, Outi Mäkitie, Miki Susic, Leanne Ward, Catherine Barclay, Francis H. Glorieux and William G. Cole

    Article first published online : 8 AUG 2005, DOI: 10.1002/ajmg.a.30855

  20. Skeletal Dysplasias Related to Defects in Sulfate Metabolism

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

    Peter M. Royce, Beat Steinmann, Pages: 939–960, 2003

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

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