Literature DB >> 10869120

Dental findings in the Schimke immuno-osseous dysplasia.

M A da Fonseca1.   

Abstract

Schimke immuno-osseous dysplasia is a rare autosomal recessive disorder that affects primarily bone, T lymphocytes, kidneys, and skin. The patients have a triangular face, broad nasal bridge, bulbous nose tip, small palpebral fissures, short neck, long upper lip, and low hairline. Dental abnormalities of affected patients have not been discussed in detail. The patient described in this clinical report presented with clinical and radiographic abnormalities that may constitute a diagnostic characteristic in this condition. Copyright 2000 Wiley-Liss, Inc.

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Year:  2000        PMID: 10869120     DOI: 10.1002/1096-8628(20000717)93:2<158::aid-ajmg14>3.0.co;2-4

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  8 in total

Review 1.  Tooth dentin defects reflect genetic disorders affecting bone mineralization.

Authors:  S Opsahl Vital; C Gaucher; C Bardet; P S Rowe; A George; A Linglart; C Chaussain
Journal:  Bone       Date:  2012-01-26       Impact factor: 4.398

2.  Dental abnormalities in Schimke immuno-osseous dysplasia.

Authors:  M Morimoto; O Kérourédan; M Gendronneau; C Shuen; A Baradaran-Heravi; Y Asakura; M Basiratnia; R Bogdanovic; D Bonneau; A Buck; J Charrow; P Cochat; K A Dehaai; M S Fenkçi; P Frange; S Fründ; H Fryssira; K Keller; S Kirmani; C Kobelka; K Kohler; D B Lewis; L Massella; D R McLeod; D V Milford; F Nobili; A H Olney; C N Semerci; N Stajic; A Stein; S Taque; J Zonana; T Lücke; G Hendson; M Bonnaure-Mallet; C F Boerkoel
Journal:  J Dent Res       Date:  2012-07       Impact factor: 6.116

3.  Translated Mutant DSPP mRNA Expression Level Impacts the Severity of Dentin Defects.

Authors:  Youn Jung Kim; Yejin Lee; Hong Zhang; Figen Seymen; Mine Koruyucu; Sule Bayrak; Nuray Tuloglu; James P Simmer; Jan C-C Hu; Jung-Wook Kim
Journal:  J Pers Med       Date:  2022-06-19

4.  Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia.

Authors:  M Gendronneau; O Kérourédan; S Taque; J L Sixou; M Bonnaure-Mallet
Journal:  Eur Arch Paediatr Dent       Date:  2013-12-11

5.  SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Authors:  Alireza Baradaran-Heravi; Anja Raams; Joanna Lubieniecka; Kyoung Sang Cho; Kristi A DeHaai; Mitra Basiratnia; Pierre-Olivier Mari; Yutong Xue; Michael Rauth; Ann Haskins Olney; Mary Shago; Kunho Choi; Rosanna A Weksberg; Malgorzata J M Nowaczyk; Weidong Wang; Nicolaas G J Jaspers; Cornelius F Boerkoel
Journal:  Am J Med Genet A       Date:  2012-08-07       Impact factor: 2.802

6.  Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.

Authors:  Thomas Lücke; Katja M Marwedel; Nele K Kanzelmeyer; Akira Hori; Gisela Offner; Hans-Heinrich Kreipe; Jochen H H Ehrich; Anibh M Das
Journal:  Pediatr Nephrol       Date:  2004-03-31       Impact factor: 3.714

7.  Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Authors:  Marie Morimoto; Zhongxin Yu; Peter Stenzel; J Marietta Clewing; Behzad Najafian; Christy Mayfield; Glenda Hendson; Justin G Weinkauf; Andrew K Gormley; David M Parham; Umakumaran Ponniah; Jean-Luc André; Yumi Asakura; Mitra Basiratnia; Radovan Bogdanović; Arend Bokenkamp; Dominique Bonneau; Anna Buck; Joel Charrow; Pierre Cochat; Isabel Cordeiro; Georges Deschenes; M Semin Fenkçi; Pierre Frange; Stefan Fründ; Helen Fryssira; Encarna Guillen-Navarro; Kory Keller; Salman Kirmani; Christine Kobelka; Petra Lamfers; Elena Levtchenko; David B Lewis; Laura Massella; D Ross McLeod; David V Milford; François Nobili; Jorge M Saraiva; C Nur Semerci; Lawrence Shoemaker; Nataša Stajić; Anja Stein; Doris Taha; Dorothea Wand; Jonathan Zonana; Thomas Lücke; Cornelius F Boerkoel
Journal:  Orphanet J Rare Dis       Date:  2012-09-22       Impact factor: 4.123

Review 8.  Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.

Authors:  Martin J Barron; Sinead T McDonnell; Iain Mackie; Michael J Dixon
Journal:  Orphanet J Rare Dis       Date:  2008-11-20       Impact factor: 4.123

  8 in total

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