Literature DB >> 1986108

Omenn phenotype with short-limbed dwarfism.

O Schofer1, I Blaha, W Mannhardt, F Zepp, T Stallmach, J Spranger.   

Abstract

Mesh：

Year:  1991        PMID： 1986108     DOI： 10.1016/s0022-3476(05)81853-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  6 in total

Review 1.  Primary T-lymphocyte immunodeficiencies.

Authors:  A Fischer
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 8.667

2.  Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.

Authors:  A Castriota-Scanderbeg; R Mingarelli; G Caramia; P Osimani; R S Lachman; D L Rimoin; W R Wilcox; B Dallapiccola
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

3.  Altered endochondral ossification in collagen X mouse models leads to impaired immune responses.

Authors:  E Sweeney; M Campbell; K Watkins; C A Hunter; O Jacenko
Journal:  Dev Dyn       Date:  2008-10       Impact factor: 3.780

4.  Linking hematopoiesis to endochondral skeletogenesis through analysis of mice transgenic for collagen X.

Authors:  Olena Jacenko; Douglas W Roberts; Michelle R Campbell; Patricia M McManus; Catherine J Gress; Zhuliang Tao
Journal:  Am J Pathol       Date:  2002-06       Impact factor: 4.307

5.  Expansion of CD3+CD4-CD8- T cell population expressing high levels of IL-5 in Omenn's syndrome.

Authors:  I Melamed; A Cohen; C M Roifman
Journal:  Clin Exp Immunol       Date:  1994-01       Impact factor: 4.330

6.  EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Authors:  Stefano Volpi; Yasuhiro Yamazaki; Patrick M Brauer; Ellen van Rooijen; Atsuko Hayashida; Anne Slavotinek; Hye Sun Kuehn; Maja Di Rocco; Carlo Rivolta; Ileana Bortolomai; Likun Du; Kerstin Felgentreff; Lisa Ott de Bruin; Kazutaka Hayashida; George Freedman; Genni Enza Marcovecchio; Kelly Capuder; Prisni Rath; Nicole Luche; Elliott J Hagedorn; Antonella Buoncompagni; Beryl Royer-Bertrand; Silvia Giliani; Pietro Luigi Poliani; Luisa Imberti; Kerry Dobbs; Fabienne E Poulain; Alberto Martini; John Manis; Robert J Linhardt; Marita Bosticardo; Sergio Damian Rosenzweig; Hane Lee; Jennifer M Puck; Juan Carlos Zúñiga-Pflücker; Leonard Zon; Pyong Woo Park; Andrea Superti-Furga; Luigi D Notarangelo
Journal:  J Exp Med       Date:  2017-02-01       Impact factor: 14.307
  6 in total

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