(Q34475762)

2 August 2017

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title

Genetics and hearing loss: a review of Stickler syndrome (English)

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2 August 2017

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Nowak CB

1

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2 August 2017

publication date

1 September 1998

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Journal of Communication Disorders

2 August 2017

published in

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2 August 2017

volume

31

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2 August 2017

issue

5

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2 August 2017

page(s)

437-53; 453-4

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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

The Marshall and Stickler syndromes: objective rejection of lumping.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Marshall/Stickler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Hereditary progressive arthro-ophthalmopathy of Stickler

7 January 2021

1 reference

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[On the clinical manifestation and pathology of degeneratio hyaloideoretinalis hereditaria (Wagner)]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Procollagen II Gene Mutation in Stickler Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Letter: The demise of the Marshall syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Thoracic disc herniation and paraplegia in Stickler's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Correlation between antibodies to type II collagen and treatment outcome in bilateral progressive sensorineural hearing loss

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Prophylactic laser photocoagulation in Stickler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

The Wagner-Stickler syndrome: A study of 22 families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Prevalence of mitral-valve prolapse in the Stickler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Otolaryngological manifestations of the Stickler syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Marshall-Stickler phenotype associated with von Willebrand disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

7 January 2021

The Stickler syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Airway management in children with craniofacial anomalies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Distinctive cataract in the Stickler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

The Marshall syndrome: report of a new family and review of the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Pierre Robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Genetic and clinical heterogeneity of Stickler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Retinal detachment in identical twins with Stickler syndrome type 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

The Robin anomalad (Pierre Robin syndrome)--a follow up study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Long-term follow-up of ocular findings in children with Stickler's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

Variability of Stickler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

inferred from DOI database lookup

7 January 2021

based on heuristic

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9924%2898%2900015-X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0021-9924(98)00015-X

1 reference

2 August 2017

1 reference