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1. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Authors: S Annunen; J Körkkö; M Czarny; M L Warman; H G Brunner; H Kääriäinen; J B Mulliken; L Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; I Kaitila; M R Krawczynski; A Latos-Bielenska; S Mukai; B R Olsen; N Shinno; M Somer; M Vikkula; J Zlotogora; D J Prockop; L Ala-Kokko
Journal: Am J Hum Genet Date: 1999-10 Impact factor: 11.025

Review 2. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors: J Spranger
Journal: Eur J Pediatr Date: 1992-06 Impact factor: 3.183

3. 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

4. [Syndrome patients within the framework of the early orthodontic treatment of infants with cheilognathopalatoschisis].

Authors: M Bacher; P Koppenburg; E Leidig; D Dausch-Neumann; N Schwenzer; H G Döring
Journal: Fortschr Kieferorthop Date: 1989-12

10. 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

The Stickler syndrome (hereditary arthroophthalmopathy).

1. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Review 2. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

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

4. [Syndrome patients within the framework of the early orthodontic treatment of infants with cheilognathopalatoschisis].

5. Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

6. Night blindness, characteristic facies, and skeletal abnormalities in two brothers.

7. Stickler's syndrome: a study of 12 families.

8. The clinical spectrum of congenital contractural arachnodactyly. A case with congenital heart disease.

Review 9. The type II collagenopathies: a spectrum of chondrodysplasias.

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