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There are 2631 results for: content related to: ‘POP’! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing

  1. 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

  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. 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

  4. 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

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

  5. Marked variability in the radiographic features of cartilage-hair hypoplasia: Case report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2911–2916, Andrea Kwan, M.A. Manning, Linda K. Zollars and H. Eugene Hoyme

    Article first published online : 14 SEP 2012, DOI: 10.1002/ajmg.a.35604

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    Pathogenic variants in non-protein-coding sequences

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 422–428, P Makrythanasis and SE Antonarakis

    Article first published online : 23 SEP 2013, DOI: 10.1111/cge.12272

  7. 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

  8. 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

  9. 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

    Article first published online : 8 AUG 2005, DOI: 10.1002/ajmg.a.30903

  10. 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

  11. Schizosaccharomyces pombe RNase MRP RNA is homologous to metazoan RNase MRP RNAs and may provide clues to interrelationships between RNase MRP and RNase P

    Yeast

    Volume 11, Issue 13, October 1995, Pages: 1249–1264, Janet L. Paluh and David A. Clayton

    Article first published online : 29 JAN 2004, DOI: 10.1002/yea.320111305

  12. 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

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    Pop3p is essential for the activity of the RNase MRP and RNase P ribonucleoproteins in vivo

    The EMBO Journal

    Volume 16, Issue 2, January 15, 1997, Pages: 417–429, Bernhard Dichtl and David Tollervey

    Article first published online : 15 JAN 1997, DOI: 10.1093/emboj/16.2.417

  14. 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

  15. 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

  16. RMRP mutations in hematological disorders

    Clinical Genetics

    Volume 71, Issue 5, May 2007, Pages: 468–470, SA Graf, RT Calado, S Kajigaya and NS Young

    Article first published online : 5 APR 2007, DOI: 10.1111/j.1399-0004.2007.00776.x

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    Ribonucleases P/MRP and the Expanding Ribonucleoprotein World

    IUBMB Life

    Volume 64, Issue 6, June 2012, Pages: 521–528, Aaron Hernandez-Cid, Sergio Aguirre-Sampieri, Adelaida Diaz-Vilchis and Alfredo Torres-Larios

    Article first published online : 18 MAY 2012, DOI: 10.1002/iub.1052

  18. International nosology and classification of constitutional disorders of bone (2001)

    American Journal of Medical Genetics

    Volume 113, Issue 1, 15 November 2002, Pages: 65–77, Christine M. Hall

    Article first published online : 29 AUG 2002, DOI: 10.1002/ajmg.10828

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    Architecture and Function of the Human Endonucleases RNase P and RNase MRP

    IUBMB Life

    Volume 49, Issue 4, April 2000, Pages: 265–272, Hans Van Eenennaam, Nayef Jarrous, Walther J. van Venrooij and Ger J. M. Pruijn

    Article first published online : 18 JAN 2008, DOI: 10.1080/15216540050033113

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    Ribosomal dysfunction and inherited marrow failure

    British Journal of Haematology

    Volume 141, Issue 3, May 2008, Pages: 376–387, Karthik A. Ganapathi and Akiko Shimamura

    Article first published online : 9 APR 2008, DOI: 10.1111/j.1365-2141.2008.07095.x