Literature DB >> 4205343

[Kniest's disease].

P Maroteaux, J Spranger.   

Abstract

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Year:  1973        PMID: 4205343

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


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  8 in total

1.  Kniest syndrome with dominant inheritance and mucopolysacchariduria.

Authors:  H J Kim; N G Beratis; P Brill; E Raab; K Hirschhorn; R Matalon
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

2.  Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.

Authors:  A Verloes; L Van Maldergem; P de Marneffe; J L Dufier; P Maroteaux
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

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.  The type II collagenopathies: a spectrum of chondrodysplasias.

Authors:  J Spranger; A Winterpacht; B Zabel
Journal:  Eur J Pediatr       Date:  1994-02       Impact factor: 3.183

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.  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

8.  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

  8 in total

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