(Q34180628)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

0 references

Andrew Oliver Mungo Wilkie

18

1 reference

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1 November 2019

Stephen Robertson

1

1 reference

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1 November 2019

Stephen Twigg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

Andrew J Sutherland-Smith

1 November 2019

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Chong Ae Kim

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

10

Ruth Newbury-Ecob

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

6

Denise Horn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

Valérie Biancalana

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Robert J Gorlin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Susan J Kenwrick

7

1 reference

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1 November 2019

Eva Morava

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Karen H Orstavik

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Oliver W J Quarrell

12

1 reference

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1 November 2019

Charles E Schwartz

13

1 reference

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1 November 2019

Deborah J Shears

14

1 reference

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1 November 2019

Mohnish Suri

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

John Kendrick-Jones

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

The OPD-spectrum Disorders Clinical Collaborative Group

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

3 March 2003

1 reference

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1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

487-491

1 reference

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1 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12612583%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng1119

1 November 2019

exact match

0 references

cites work

Filamins as integrators of cell mechanics and signalling

1 reference

7 January 2021

Structural and functional aspects of filamins

1 reference

7 January 2021

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

7 January 2021

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

1 reference

7 January 2021

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

7 January 2021

Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

1 reference

7 January 2021

Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

1 reference

7 January 2021

Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

1 reference

7 January 2021

Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28

1 reference

7 January 2021

Refined mapping of the gene for otopalatodigital syndrome type I.

1 reference

7 January 2021

The oto-palato-digital syndrome, proposed type II.

1 reference

7 January 2021

The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia

1 reference

7 January 2021

Frontometaphyseal dysplasia. A new syndrome

1 reference

7 January 2021

AN UNDIAGNOSED BONE DYSPLASIA

1 reference

7 January 2021

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome

1 reference

7 January 2021

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

1 reference

7 January 2021

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

1 reference

7 January 2021

The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy

1 reference

7 January 2021

Crystal structure of a calponin homology domain

1 reference

7 January 2021

Structural basis for dimerization of the Dictyostelium gelation factor (ABP120) rod

1 reference

7 January 2021

Abnormal facies, cleft palate, and generalized dysostosis: A lethal X-linked syndrome

1 reference

7 January 2021

Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus

1 reference

7 January 2021

Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear

1 reference

7 January 2021

An extensively modified version of MolScript that includes greatly enhanced coloring capabilities

1 reference

7 January 2021