Literature DB >> 5555980

[The campomelic syndrome].

P Maroteaux, J Spranger, J M Opitz, J Kucera, R B Lowry, R N Schimke, S M Kagan.   

Abstract

Mesh：

Year:  1971        PMID： 5555980

Source DB:  PubMed          Journal:  Presse Med        ISSN： 0032-7867            Impact factor:   1.228


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  27 in total

1.  SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex.

Authors:  Rongjia Zhou; Nathalie Bonneaud; Chao-Xing Yuan; Pascal de Santa Barbara; Brigitte Boizet; Tibor Schomber; Gerd Scherer; Robert G Roeder; Francis Poulat; Philippe Berta; Schomber Tibor
Journal:  Nucleic Acids Res       Date:  2002-07-15       Impact factor: 16.971

2.  Campomelic syndrome: experimental models and pathomechanism.

Authors:  M Roth
Journal:  Pediatr Radiol       Date:  1991

3.  Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias.

Authors:  H R Wiedemann; W Remagen; H A Hienz; R J Gorlin; P Maroteaux
Journal:  Z Kinderheilkd       Date:  1974

4.  Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

Authors:  J Spranger; B Grimm; M Weller; G Weissenbacher; J Herrmann; E Gilbert; R Krepler
Journal:  Z Kinderheilkd       Date:  1974-01-17

5.  Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.

Authors:  U E Pazzaglia; G Beluffi
Journal:  Pediatr Radiol       Date:  1987

6.  Sex-reversed XY females with campomelic dysplasia are H-Y negative.

Authors:  F D Bricarelli; M Fraccaro; J Lindsten; U Müller; P Baggio; L D Carbone; A Hjerpe; F Lindgren; A Mayerová; H Ringertz; E M Ritzén; D C Rovetta; C Sicchero; U Wolf
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  Campomelic dysplasia--an underdiagnosed condition?

Authors:  E K Normann; J C Pedersen; G Stiris; C B van der Hagen
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

8.  SOX9 specifies the pyloric sphincter epithelium through mesenchymal-epithelial signals.

Authors:  Brigitte Moniot; Sandrine Biau; Sandrine Faure; Corinne M Nielsen; Philippe Berta; Drucilla J Roberts; Pascal de Santa Barbara
Journal:  Development       Date:  2004-07-07       Impact factor: 6.868

9.  Oto-palato-digital syndrome type II. Report of two related cases.

Authors:  P W Gendall; K Kozlowski
Journal:  Pediatr Radiol       Date:  1992

10.  Absence of H-Y antigen in an XY female with campomelic dysplasia.

Authors:  S M Puck; F P Haseltine; U Francke
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
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