(Q28272822)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

case report

0 references

title

RBPJ mutations identified in two families affected by Adams-Oliver syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

main subject

Adams-Oliver syndrome

1 reference

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

author name string

Susan J Hassed

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Graham B Wiley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Shaofeng Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Ji-Yun Lee

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Shibo Li

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Weihong Xu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Zhizhuang J Zhao

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

John J Mulvihill

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

James Robertson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

James Warner

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

language of work or name

English

0 references

publication date

1 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 February 2020

published in

1 reference

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10 February 2020

volume

91

1 reference

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10 February 2020

issue

2

1 reference

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10 February 2020

page(s)

391-395

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

10 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

A method and server for predicting damaging missense mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Adams-Oliver syndrome revisited

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Notch1 is essential for postnatal hair follicle development and homeostasis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Integrative genomics viewer

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Notch signaling and the developing skeleton.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

RBPjkappa-dependent Notch signaling regulates mesenchymal progenitor cell proliferation and differentiation during skeletal development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Notch signaling in blood vessels: who is talking to whom about what?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Crystal structure of the nuclear effector of Notch signaling, CSL, bound to DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Notch signaling and inherited disease syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Site-directed mutagenesis study on DNA binding regions of the mouse homologue of Suppressor of Hairless, RBP-J kappa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Adams-Oliver syndrome: further evidence for autosomal recessive inheritance.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Adams Oliver syndrome: a family with extreme variability in clinical expression

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

RBP-J, the transcription factor downstream of Notch receptors, is essential for the maintenance of vascular homeostasis in adult mice.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415535

Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22883147

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[The Adams-Oliver syndrome in Spain: the epidemiological aspects]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22883147

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22883147

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.07.005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

22883147

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22883147%20AND%20SRC:MED&resulttype=core&format=json