(Q28277217)

6

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Julie McGaughran

object named as

Julie McGaughran

4

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Ashish D. Diwan

object named as

Ashish Diwan

10

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author name string

May Tassabehji

1

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Zhi Ming Fang

2

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Zhongming Zhao

5

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Emma Howard

7

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Michael Malass

8

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Dian Donnai

9

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Forbes D C Manson

11

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Dédée Murrell

12

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Raymond A Clarke

GDF6, a novel locus for a spectrum of ocular developmental anomalies

13

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language of work or name

English

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publication date

August 2008

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published in

Human Mutation

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volume

29

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issue

8

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page(s)

1017-27

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Klippel-Feil syndrome associated with malformed larynx. Case report

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Heterogeneity in Klippel-Feil syndrome: a new classification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Detecting polymorphisms and mutations in candidate genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

The mutational spectrum of brachydactyly type C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

VISTA: computational tools for comparative genomics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Mutation of an upstream cleavage site in the BMP4 prodomain leads to tissue-specific loss of activity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Eye and neural defects associated with loss of GDF6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

A Case of Absence of Cervical Vertebrae with the Thoracic Cage Rising to the Base of the Cranium (Cervical Thoracic Cage)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: Novel association or syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Familial os odontoideum. Case report

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

A general approach for identifying distant regulatory elements applied to the Gdf6 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Coordinate expression of BMP-2, BMP receptors and Noggin in normal mouse spine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Spinal abnormalities and the atypical form of the Mayer-Rokitansky-Küster-Hauser syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: a new variant of Dubowitz syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021