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There are 23040 results for: content related to: Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

  1. Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1550–1554, Bertrand Isidor, Sabine Baron, Philippe Khau van Kien, Anne-Marie Bertrand, Albert David and Martine Le Merrer

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33397

  2. Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: Report of a new case without nephronophtisis

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 788–792, Bertrand Isidor, Martine Le Merrer, Emmanuelle Ramos, Sabine Baron and Albert David

    Version of Record online : 13 MAY 2008, DOI: 10.1002/ajmg.a.32343

  3. Endochondral gigantism: A newly recognized skeletal dysplasia with pre- and postnatal overgrowth and endocrine abnormalities

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1868–1875, Heinrich Schmidt, Birgit Kammer, Monika Grasser, Angelika Enders, Imma Rost and Wieland Kiess

    Version of Record online : 6 JUL 2007, DOI: 10.1002/ajmg.a.31839

  4. Spondylometaphyseal dysplasia with cone-rod dystrophy

    American Journal of Medical Genetics Part A

    Volume 155, Issue 4, April 2011, Pages: 845–849, Hiroshi Kitoh, Hiroshi Kaneko, Mineo Kondo, Toshiyuki Yamamoto, Naoki Ishiguro and Gen Nishimura

    Version of Record online : 15 MAR 2011, DOI: 10.1002/ajmg.a.33898

  5. Spondylometaphyseal dysplasia with cone-rod dystrophy

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 3, 1 September 2004, Pages: 265–276, Brent A. Walters, Michael L. Raff, James Ver Hoeve, Rachel Tesser, Leonard O. Langer, Thomas D. France, Ian A. Glass and Richard M. Pauli

    Version of Record online : 21 JUL 2004, DOI: 10.1002/ajmg.a.30145

  6. Axial spondylometaphyseal dysplasia: Additional reports

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2521–2528, Shigeru Suzuki, Ok-Hwa Kim, Yoshio Makita, Tetsuya Saito, Gye-Yeon Lim, Tae-Joon Cho, Abdulrahman Al-Swaid, Shatha Alrasheed, Eiad Sadoon, Osamu Miyazaki, Sachiko Nishina, Andrea Superti-Furga, Sheila Unger, Kenji Fujieda, Shiro Ikegawa and Gen Nishimura

    Version of Record online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34192

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    A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 14, 15 July 2006, Pages: 1491–1496, André Mégarbané, Ismat Ghanem, Naji Waked and Fernand Dagher

    Version of Record online : 12 JUN 2006, DOI: 10.1002/ajmg.a.31316

  8. Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1158–1165, Marco T. Páez, Toshiyuki Yamamoto, Ken-ichi Hayashi, Toshiyuki Yasuda, Naoki Harada, Naomichi Matsumoto, Kenji Kurosawa, Yoshiyuki Furutani, Shuichi Asakawa, Nobuyoshi Shimizu and Rumiko Matsuoka

    Version of Record online : 4 APR 2008, DOI: 10.1002/ajmg.a.32205

  9. Pure segmental trisomy 1q42-qter in a boy with a severe phenotype

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 19, 1 October 2007, Pages: 2339–2342, Antonio Percesepe, Licia Lugli, Mauro Pierluigi, Simona Cavani, Michela Malacarne, Maria Federica Roversi, Fabrizio Ferrari and Antonino Forabosco

    Version of Record online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31890

  10. Fetal intracranial calcification: Pseudo-TORCH phenotype and discussion of related phenotypes

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 930–937, Akhil Muralidhar Kulkarni, Shankar Baskar, Muralidhar Laxmanrao Kulkarni, Abhishek Jayateerth Kulkarni, Amit Vasanth Mahuli, Suhasini Vittalrao and Preethi Muralidar Kulkarni

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33358

  11. Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 3, 15 June 2005, Pages: 328–332, Robert A. Saul, Virginia Proud, Harold A. Taylor, Jules G. Leroy and Jurgen Spranger

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30716

  12. Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2753–2761, Maryam Zarghooni and Sarma S.R. Dittakavi

    Version of Record online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33134

  13. Metabolic and molecular basis of peroxisomal disorders: A review

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 4, 1 May 2004, Pages: 355–375, Ronald J.A. Wanders

    Version of Record online : 14 APR 2004, DOI: 10.1002/ajmg.a.20661

  14. You have free access to this content
    Nosology and classification of genetic skeletal disorders: 2006 revision

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 1, 1 January 2007, Pages: 1–18, Andrea Superti-Furga and Sheila Unger

    Version of Record online : 21 NOV 2006, DOI: 10.1002/ajmg.a.31483

  15. Nosology and classification of genetic skeletal disorders: 2015 revision

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 2869–2892, Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen Spranger, Andrea Superti-Furga, Matthew Warman and Sheila Unger

    Version of Record online : 23 SEP 2015, DOI: 10.1002/ajmg.a.37365

  16. Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 22, 15 November 2008, Pages: 2929–2936, Ghada M.H. Abdel-Salam, Maha S. Zaki, Sahar N. Saleem and Khaled R. Gaber

    Version of Record online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32549

  17. CHARGE syndrome: Relations between behavioral characteristics and medical conditions

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 8, 15 April 2006, Pages: 851–862, Mathijs P.J. Vervloed, Marella A.A. Hoevenaars-van den Boom, Harry Knoors, Conny M.A. van Ravenswaaij and Ronald J.C. Admiraal

    Version of Record online : 10 MAR 2006, DOI: 10.1002/ajmg.a.31193

  18. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: Evidence for a founder haplotype for the most common PEX10 gene mutation

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 1, 1 July 2003, Pages: 40–43, Nobuyuki Shimozawa, Tomoko Nagase, Yasuhiko Takemoto, Toshihiro Ohura, Yasuyuki Suzuki and Naomi Kondo

    Version of Record online : 7 FEB 2003, DOI: 10.1002/ajmg.a.20030

  19. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1727–1733, Beyhan Tüysüz, Safa Barış, Figen Aksoy, Rıza Madazlı, Savaş Üngür and Lale Sever

    Version of Record online : 16 JUL 2009, DOI: 10.1002/ajmg.a.32962

  20. Disclosures of Huntington disease risk within families: Patterns of decision-making and implications

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1835–1849, Robert Klitzman, Deborah Thorne, Jennifer Williamson, Wendy Chung and Karen Marder

    Version of Record online : 13 JUL 2007, DOI: 10.1002/ajmg.a.31864