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There are 51093 results for: content related to: Marked variability in the radiographic features of cartilage-hair hypoplasia: Case report and review of the literature

  1. You have free access to this content
    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

    Version of Record online : 12 JUL 2006, DOI: 10.1002/ajmg.a.31331

  2. 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

    Version of Record online : 6 MAY 2010, DOI: 10.1002/wrna.9

  3. 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

    Version of Record online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32406

  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

    Version of Record online : 3 APR 2002, DOI: 10.1034/j.1399-0004.2002.610210.x

  5. 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

    Version of Record online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32478

  6. 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

    Version of Record online : 23 JUN 2003, DOI: 10.1002/ajmg.c.20006

  7. 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

    Version of Record online : 11 AUG 2005, DOI: 10.1002/ajmg.a.30902

  8. Cartilage-hair hypoplasia with normal height in childhood—4 patients with a unique genotype

    Clinical Genetics

    Volume 92, Issue 2, August 2017, Pages: 204–207, P. Klemetti, H. Valta, S. Kostjukovits, M. Taskinen, S. Toiviainen-Salo and O. Mäkitie

    Version of Record online : 19 MAR 2017, DOI: 10.1111/cge.12969

  9. Treatment of cartilage–hair hypoplasia with recombinant human growth hormone

    Pediatrics International

    Volume 55, Issue 6, December 2013, Pages: e162–e164, Monika Obara-Moszynska, Weronika Wielanowska, Aleksandra Rojek, Danuta Wolnik-Brzozowska and Marek Niedziela

    Version of Record online : 11 DEC 2013, DOI: 10.1111/ped.12215

  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

    Version of Record 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

    Version of Record online : 14 DEC 2005, DOI: 10.1002/pd.1970150205

  12. 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

    Version of Record online : 13 MAY 2003, DOI: 10.1002/ajmg.a.20281

  13. You have full text access to this OnlineOpen article
    Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency

    American Journal of Medical Genetics Part A

    Volume 173, Issue 2, February 2017, Pages: 537–540, Inma Castilla-Cortázar, Julieta Rodríguez De Ita, Irene Martín-Estal, Fabiola Castorena, Gabriel A. Aguirre, Rocío García de la Garza and Martha I. Elizondo

    Version of Record online : 14 NOV 2016, DOI: 10.1002/ajmg.a.38052

  14. 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

    Version of Record online : 15 OCT 2007, DOI: 10.1002/ajmg.a.32053

  15. 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

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1992.tb12168.x

  16. 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

    Version of Record online : 30 AUG 2006, DOI: 10.1002/pd.1547

  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

    Version of Record online : 30 JUN 2007, DOI: 10.1111/j.1872-034X.2007.00153.x

  18. Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: Preliminary results

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 1, 15 September 2005, Pages: 66–67, Marc S. Williams and Pia Hermanns

    Version of Record online : 8 AUG 2005, DOI: 10.1002/ajmg.a.30903

  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

    Version of Record online : 8 AUG 2005, DOI: 10.1002/ajmg.a.30855

  20. You have free access to this content
    Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID)

    Clinical & Experimental Immunology

    Volume 102, Issue 1, October 1995, Pages: 6–10, E. CASTIGLI, A.-M. IRANI, R. S. GEHA and T. CHATILA

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1365-2249.1995.tb06628.x