Literature DB >> 4621588

Diastrophic dwarfism.

B A Walker, C I Scott, J G Hall, J L Murdoch, V A McKusick.   

Abstract

Entities:  

Mesh：

Year:  1972        PMID： 4621588     DOI： 10.1097/00005792-197201000-00003

Source DB:  PubMed          Journal:  Medicine (Baltimore)        ISSN： 0025-7974            Impact factor:   1.889


× No keyword cloud information.
  13 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.

Authors:  K Elima; I Kaitila; L Mikonoja; U Elonsalo; L Peltonen; E Vuorio
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

3.  Acanthosis nigricans, congenital heart disease and other congenital defects.

Authors:  J F Costello
Journal:  Proc R Soc Med       Date:  1972-09

4.  A case of lethal congenital dwarfism with accelerated skeletal maturation.

Authors:  S Blomstrand; I Claësson; J Säve-Söderbergh
Journal:  Pediatr Radiol       Date:  1985

5.  Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.

Authors:  J Hästbacka; R Salonen; P Laurila; A de la Chapelle; I Kaitila
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

6.  [Pathologic-anatomic and radiological studies of two premature sibs with diastrophic dwarfism and marked spinal-column disturbances (author's transl)].

Authors:  J Briner; M Brandner
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1974

7.  Matrix disruptions, growth, and degradation of cartilage with impaired sulfation.

Authors:  Edward L Mertz; Marcella Facchini; Anna T Pham; Benedetta Gualeni; Fabio De Leonardis; Antonio Rossi; Antonella Forlino
Journal:  J Biol Chem       Date:  2012-05-03       Impact factor: 5.157

8.  Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Authors:  J Hästbacka; A Superti-Furga; W R Wilcox; D L Rimoin; D H Cohn; E S Lander
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

9.  Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage.

Authors:  F Shapiro
Journal:  Calcif Tissue Int       Date:  1992-10       Impact factor: 4.333

10.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.