(Q28146059)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

ectrodactyly–ectodermal dysplasia–cleft syndrome

1 November 2019

main subject

1 reference

1 reference

2

1 reference

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1 November 2019

Hans van Bokhoven

19

1 reference

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1 November 2019

author name string

J Celli

1

1 reference

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1 November 2019

B C Hamel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Bamshad

4

1 reference

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1 November 2019

B Kramer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A P Smits

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

R Newbury-Ecob

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

R C Hennekam

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

G Van Buggenhout

9

1 reference

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1 November 2019

A van Haeringen

10

1 reference

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1 November 2019

C G Woods

11

1 reference

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1 November 2019

A J van Essen

12

1 reference

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1 November 2019

R de Waal

13

1 reference

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1 November 2019

D A Haber

15

1 reference

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1 November 2019

A Yang

16

1 reference

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1 November 2019

F McKeon

17

1 reference

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1 November 2019

H G Brunner

18

1 reference

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1 November 2019

G Vriend

14

1 reference

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1 November 2019

language of work or name

English

0 references

publication date

1 October 1999

1 reference

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1 November 2019

1 reference

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1 November 2019

volume

99

1 reference

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1 November 2019

page(s)

143-153

1 reference

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1 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred.

1 November 2019

cites work

1 reference

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7 January 2021

The use of position-specific rotamers in model building by homology

1 reference

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7 January 2021

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

The relation between the divergence of sequence and structure in proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.

1 reference

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7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

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7 January 2021

Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).

1 reference

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7 January 2021

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

IARC Database of p53 gene mutations in human tumors and cell lines: updated compilation, revised formats and new visualisation tools

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

p53 mutations in human cancers

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Monoallelically expressed gene related to p53 at 1p36, a region frequently deleted in neuroblastoma and other human cancers

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

p53: puzzle and paradigm

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

p53, the cellular gatekeeper for growth and division

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

p63 is a p53 homologue required for limb and epidermal morphogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Limb mutants: what can they tell us about normal limb development?

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Cloning and functional analysis of human p51, which structurally and functionally resembles p53

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Database of homology-derived protein structures and the structural meaning of sequence alignment

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

A novel protein with strong homology to the tumor suppressor p53.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Pathogenesis of ectrodactyly in the Dactylaplasia mouse: aberrant cell death of the apical ectodermal ridge

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Clonal expansion of p53 mutant cells is associated with brain tumour progression

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

A new human p53 homologue

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

WHAT IF: a molecular modeling and drug design program

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

A comparison of the biological activities of wild-type and mutant p53.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2981646-3

7 January 2021

10.1016/S0092-8674(00)81646-3

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

1249086

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1249086

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1249086