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Literature DB >> 4214536

The Kniest syndrome.

C D Siggers, D L Rimoin, J P Dorst, S B Doty, B R Williams, D W Hollister, R Silberberg, R E Cranley, R L Kaufman, V A McKusick.

Abstract

Entities: Disease

Mesh：

Year: 1974 PMID： 4214536

Source DB: PubMed Journal: Birth Defects Orig Artic Ser ISSN： 0547-6844

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10 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. Kniest syndrome.

Authors: V Stanescu; R Stanescu; P Maroteaux
Journal: Am J Hum Genet Date: 1976-09 Impact factor: 11.025

3. Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

Authors: Michael M Weinstein; Taekyu Kang; Ralph S Lachman; Michael Bamshad; Deborah A Nickerson; Deborah Krakow; Daniel H Cohn
Journal: Am J Med Genet A Date: 2016-08-17 Impact factor: 2.802

4. 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

5. 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

6. Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly.

Authors: A R Poole; I Pidoux; A Reiner; L Rosenberg; D Hollister; L Murray; D Rimoin
Journal: J Clin Invest Date: 1988-02 Impact factor: 14.808

The Kniest syndrome.

1. Kniest syndrome with dominant inheritance and mucopolysacchariduria.

2. Kniest syndrome.

3. Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

4. Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

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

6. Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly.

7. Morphologic studies in the skeletal dysplasias.

8. Keratan sulphate excretion in a patient with Kniest dysplasia.

9. Viewing Victor McKusick's legacy through the lens of his bibliography.

Review 10. Insight into the molecular genetics of myopia.