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Genetic and clinical heterogeneity of Stickler syndrome

автор

Baraitser M

опубликовано в: American Journal of Medical Genetics Part A

дата публикации: 1991-10-01

язык: английский язык

главная тема: гетерогенность, Синдром Стиклера, 5-я хромосома человека, 17-я хромосома человека

Cites articles 14

Дата

Заголовок

Авторы

1990-02-01

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome
1990-02-01

Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia
1990-05-01

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

David Rimoin
1989-05-01

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia
1989-04-01

Predisposition to familial osteoarthrosis linked to type II collagen gene

Miikka Vikkula
1989-02-01

Stickler's syndrome
1988-12-01

Amplification of human minisatellites by the polymerase chain reaction: towards DNA fingerprinting of single cells
1987-12-01

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen
1986-05-01

The human type II collagen gene (COL2A1) assigned to 12q14.3.
1985-05

Identification and characterization of the human type II collagen gene (COL2A1)
1985-07-01

A highly polymorphic region 3' to the human type II collagen gene.
1984-02-01

The Marshall and Stickler syndromes: objective rejection of lumping
1982-04-01

Marshall/Stickler syndrome

Baraitser M
Mayo Clinic Proceedings

Статья - wd:Q68324402

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