Literature DB >> 6250850

Achondrogenesis type I: light and electron-microscopic studies.

G Molz, M A Spycher.   

Abstract

The light- and electron-microscopic structure of articular and costal cartilage in a case of achondrogenesis type I has been described. The most characteristic ultrastructural change in the chondrocytes was conspicuous dilatation of the rough endoplasmatic reticulum (RER) which contained amorphous electronopaque material. This change in the RER was accompanied by marked hypertrophy of the Golgi apparatus; the matrix was basically unchanged.

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Year:  1980        PMID： 6250850     DOI： 10.1007/bf00442406

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  14 in total

1.  Achondrogenesis, type I.

Authors:  G Beluffi
Journal:  Rofo       Date:  1977-10

2.  Achondrogenesis type I. A familial subvariant?

Authors:  I Lauder; H A Ellis; T Ashcroft; A Burridge
Journal:  Arch Dis Child       Date:  1976-07       Impact factor: 3.791

3.  Pseudo-achondrogenesis with fractures.

Authors:  R Harris; J T Patton; A J Barson
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

4.  Achondrogenesis: case report and review of the literature.

Authors:  U F Xanthakos; M M Rejent
Journal:  J Pediatr       Date:  1973-04       Impact factor: 4.406

5.  Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia.

Authors:  L O Langer; J W Spranger; I Greinacher; R C Herdman
Journal:  Radiology       Date:  1969-02       Impact factor: 11.105

6.  Fatal neonatal dwarfism.

Authors:  C Stuart Houston; C F Awen; H P Kent
Journal:  J Can Assoc Radiol       Date:  1972-03

7.  Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.

Authors:  R M Saldino
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1971-05

8.  Achondrogenesis type I.

Authors:  S S Yang; J Bernstein
Journal:  Arch Dis Child       Date:  1977-03       Impact factor: 3.791

9.  Ultrastructure of cartilage in chondrodystrophies.

Authors:  R Silberberg
Journal:  Birth Defects Orig Artic Ser       Date:  1974

10.  Lethal short-limbed chondrodysplasia in early infancy.

Authors:  S S Yang; K P Heidelberger; A J Brough; D P Corbett; J Bernstein
Journal:  Perspect Pediatr Pathol       Date:  1976
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  4 in total

1.  The boneless neonate: a severe form of achondrogenesis type I.

Authors:  H J Jaeger; A Schmitz-Stolbrink; J Hulde; M Novak; K Roggenkamp; K Mathias
Journal:  Pediatr Radiol       Date:  1994

Review 2.  Achondrogenesis type 1B.

Authors:  A Superti-Furga
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

3.  A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.

Authors:  A Superti-Furga
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

4.  Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Authors:  Patrick Smits; Andrew D Bolton; Vincent Funari; Minh Hong; Eric D Boyden; Lei Lu; Danielle K Manning; Noelle D Dwyer; Jennifer L Moran; Mary Prysak; Barry Merriman; Stanley F Nelson; Luisa Bonafé; Andrea Superti-Furga; Shiro Ikegawa; Deborah Krakow; Daniel H Cohn; Tom Kirchhausen; Matthew L Warman; David R Beier
Journal:  N Engl J Med       Date:  2010-01-21       Impact factor: 91.245
  4 in total

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