(Q28266515)

Millan S Patel

13

0 references

Laura Southgate

Laura Southgate

2

0 references

Wim Wuyts

Wim Wuyts

24

0 references

Gustavo Glusman

Gustavo Glusman

10

0 references

Hanka Venselaar

Hanka Venselaar

4

0 references

Bart L Loeys

Bart Loeys

23

0 references

Richard C Trembath

Richard Trembath

19

0 references

Martin Zenker

20

Martin Zenker

0 references

Maja Sukalo

21

Maja Sukalo

0 references

Lut Van Laer

22

Lut Van Laer

0 references

Bert B A de Vries

14

Bert B A de Vries

0 references

author name string

Josephina A N Meester

1

0 references

Anna-Barbara Stittrich

3

0 references

Sander J A Beekmans

5

0 references

Nicolette den Hollander

6

0 references

Emilia K Bijlsma

7

0 references

Appolonia Helderman-van den Enden

8

0 references

Joke B G M Verheij

9

0 references

Jared C Roach

11

0 references

Claudia Ruivenkamp

15

0 references

Peter Itin

16

0 references

Katrina Prescott

17

0 references

Sheila Clarke

American Journal of Human Genetics

18

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language of work or name

English

0 references

publication date

3 September 2015

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published in

0 references

volume

97

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issue

3

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page(s)

475-82

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cites work

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Mutations in NOTCH1 cause Adams-Oliver syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Notch receptor-ligand binding and activation: insights from molecular studies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

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=4564989

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

A framework for variation discovery and genotyping using 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=4564989

Notch signalling: a simple pathway becomes complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Galaxy: a platform for interactive large-scale genome analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Structural biology. Structural basis for Notch1 engagement of Delta-like 4

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Kaviar: an accessible system for testing SNV novelty

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Notch signaling in vascular development and physiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Haploinsufficiency of delta-like 4 ligand results in embryonic lethality due to major defects in arterial and vascular 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=4564989

Viewpoint: are studies in genetically altered mice out of control?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564989

Aplasia cutis congenita with precancerous transformation - the first case. Why do these scars never develop invasive tumors?

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26299364

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26299364