Literature DB >> 23371363

Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues.

Eyal Reinstein1, Ericka B Okenfuss, Isha Wadhawan, Yael Wilnai, Melanie Manning, David L Rimoin, Ralph S Lachman.   

Abstract

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Year:  2013        PMID： 23371363      PMCID： PMC4068338          DOI： 10.1007/s13353-013-0136-2

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


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  9 in total

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

Authors:  Bertrand Isidor; Sabine Baron; Philippe Khau van Kien; Anne-Marie Bertrand; Albert David; Martine Le Merrer
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

2.  The spondylometaphyseal dysplasias. A tentative classification.

Authors:  P Maroteaux; J Spranger
Journal:  Pediatr Radiol       Date:  1991

3.  Axial spondylometaphyseal dysplasia: additional reports.

Authors:  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; Gen Nishimura
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

4.  Spondylometaphyseal dysplasia with cone-rod dystrophy.

Authors:  Hiroshi Kitoh; Hiroshi Kaneko; Mineo Kondo; Toshiyuki Yamamoto; Naoki Ishiguro; Gen Nishimura
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802

5.  The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.

Authors:  Gen Nishimura; Eiji Nakashima; Yuichiro Hirose; Trevor Cole; Phillip Cox; Daniel H Cohn; David L Rimoin; Ralph S Lachman; Yoshinari Miyamoto; Bronwyn Kerr; Sheila Unger; Hirofumi Ohashi; Andrea Superti-Furga; Shiro Ikegawa
Journal:  J Med Genet       Date:  2007-04       Impact factor: 6.318

6.  Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Authors:  Deborah Krakow; Joris Vriens; Natalia Camacho; Phi Luong; Hannah Deixler; Tara L Funari; Carlos A Bacino; Mira B Irons; Ingrid A Holm; Laurie Sadler; Ericka B Okenfuss; Annelies Janssens; Thomas Voets; David L Rimoin; Ralph S Lachman; Bernd Nilius; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2009-02-19       Impact factor: 11.025

Review 7.  The skeletal dysplasias: clinical-molecular correlations.

Authors:  David L Rimoin; Daniel Cohn; Deborah Krakow; William Wilcox; Ralph S Lachman; Yasemin Alanay
Journal:  Ann N Y Acad Sci       Date:  2007-11       Impact factor: 5.691

8.  A new form or a variant of SMD type A4.

Authors:  Ivo Marik; Olga Hudakova; Sarka Petrasova; Lukasz Kuszel; Malwina Czarny-Ratajczak; Kazimierz Kozlowski
Journal:  J Appl Genet       Date:  2012-04-24       Impact factor: 3.240

Review 9.  Nosology and classification of genetic skeletal disorders: 2010 revision.

Authors:  Matthew L Warman; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Ralph Lachman; Martine LeMerrer; Geert Mortier; Stefan Mundlos; Gen Nishimura; David L Rimoin; Stephen Robertson; Ravi Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802
  9 in total

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