(Q35266343)

7 August 2017

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome (English)

1 reference

7 August 2017

0 references

5

1 reference

7 August 2017

11

Hülya Kayserili

0 references

Flemming Skovby

10

Flemming Skovby

0 references

Alexander Hoischen

3

Alexander Hoischen

1 reference

7 August 2017

19

James R Lupski

1 reference

7 August 2017

20

Han G Brunner

1 reference

7 August 2017

17

Richard A Gibbs

1 reference

7 August 2017

15

Donna M Muzny

1 reference

7 August 2017

4

Shalini N Jhangiani

1 reference

Anneke T Vulto-van Silfhout

7 August 2017

13

Anneke T Vulto-van Silfhout

1 reference

7 August 2017

14

Marloes Steehouwer

1 reference

Baylor-Hopkins Center for Mendelian Genomics

7 August 2017

18

Baylor-Hopkins Center for Mendelian Genomics

1 reference

7 August 2017

Janson White

1

1 reference

7 August 2017

Juliana F Mazzeu

2

1 reference

7 August 2017

Michele Calijorne Alcino

6

1 reference

7 August 2017

Samantha Penney

7

1 reference

7 August 2017

Jorge M Saraiva

8

1 reference

7 August 2017

Hanne Hove

9

1 reference

7 August 2017

Elicia Estrella

12

1 reference

7 August 2017

V Reid Sutton

16

1 reference

7 August 2017

Bregje W M van Bon

21

1 reference

7 August 2017

Claudia M B Carvalho

22

1 reference

7 August 2017

language of work or name

English

0 references

publication date

26 March 2015

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

96

1 reference

7 August 2017

4

1 reference

7 August 2017

612-622

1 reference

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Organizing principles of mammalian nonsense-mediated mRNA decay

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

An integrative variant analysis suite for whole exome next-generation sequencing data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Dishevelled: The hub of Wnt signaling

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

WNT5A mutations in patients with autosomal dominant Robinow syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Murine dishevelled 3 functions in redundant pathways with dishevelled 1 and 2 in normal cardiac outflow tract, cochlea, and neural tube development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

JNK functions in the non-canonical Wnt pathway to regulate convergent extension movements in vertebrates

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

DIX domains of Dvl and axin are necessary for protein interactions and their ability to regulate beta-catenin stability

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Human dishevelled genes constitute a DHR-containing multigene family

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Pleckstrin's repeat performance: a novel domain in G-protein signaling?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

The Drosophila segment polarity gene dishevelled encodes a novel protein required for response to the wingless signal

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Xwnt-5A: a maternal Wnt that affects morphogenetic movements after overexpression in embryos of Xenopus laevis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

dishevelled and armadillo act in the wingless signalling pathway in Drosophila

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

A newly recognized dwarfing syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Noncanonical Wnt5a enhances Wnt/β-catenin signaling during osteoblastogenesis.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

The role and challenges of exome sequencing in studies of human diseases

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Loss of Wnt5a disrupts primordial germ cell migration and male sexual development in mice.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Differential mediation of the Wnt canonical pathway by mammalian Dishevelleds-1, -2, and -3

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Dishevelled-1 regulates microtubule stability: a new function mediated by glycogen synthase kinase-3beta

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Robinow syndrome in monozygotic twins with normal stature

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Wnt5 is required for tail formation in the zebrafish embryo.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Isolation and characterization of a mouse homolog of the Drosophila segment polarity gene dishevelled.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385180

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25817016

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A role for Wnts in morpho-genesis and tissue polarity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25817016

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25817016

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.02.015

1 reference

7 August 2017

1 reference

7 August 2017

1 reference