Literature DB >> 1147148

The Kniest syndrome.

R S Lachman, D L Rimoin, D W Hollister, J P Dorst, D C Siggers, W McAlister, R L Kaufman, L O Langer.   

Abstract

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Year:  1975        PMID： 1147148     DOI： 10.2214/ajr.123.4.805

Source DB:  PubMed          Journal:  Am J Roentgenol Radium Ther Nucl Med        ISSN： 0002-9580


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  16 in total

1.  Kniest dysplasia: MR correlation of histologic and radiographic peculiarities.

Authors:  Jerry R Dwek
Journal:  Pediatr Radiol       Date:  2004-08-26

2.  Hand and foot abnormalities associated with genetic diseases.

Authors:  Henry J Mankin; Jesse Jupiter; Carol Ann Trahan
Journal:  Hand (N Y)       Date:  2010-10-26

3.  The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

Authors:  A Winterpacht; A Superti-Furga; U Schwarze; H Stöss; B Steinmann; J Spranger; B Zabel
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

4.  The Weissenbacter-Zweymuller syndrome. A case report with review of the world literatue.

Authors:  H Cortina; R Aparici; J Beltran; C Alberto
Journal:  Pediatr Radiol       Date:  1977-09-01

Review 5.  Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias.

Authors:  Ananya Panda; Shivanand Gamanagatti; Manisha Jana; Arun Kumar Gupta
Journal:  World J Radiol       Date:  2014-10-28

6.  Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Authors:  J Spranger; H Menger; S Mundlos; A Winterpacht; B Zabel
Journal:  Pediatr Radiol       Date:  1994

7.  MR demonstrates cartilaginous megaepiphyses of the hips in Kniest dysplasia of the young child.

Authors:  A E Oestreich; E C Prenger
Journal:  Pediatr Radiol       Date:  1992

8.  Kniest disease with Pierre Robin syndrome and hydrocephalus.

Authors:  M Cirillo Silengo; G F Davi; R Bianco; A DeMarco; P Franceschini
Journal:  Pediatr Radiol       Date:  1983

9.  Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

Authors:  N Kaibara; K Takagishi; I Katsuki; M Eguchi; S Masumi; A Nishio
Journal:  Skeletal Radiol       Date:  1983       Impact factor: 2.199

10.  A severe infantile micromelic chondrodysplasia which resembles Kniest disease.

Authors:  L O Langer; M Gonzalez-Ramos; H Chen; C E Espiritu; N W Courtney; J M Opitz
Journal:  Eur J Pediatr       Date:  1976-08-16       Impact factor: 3.183
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