(Q35603630)

9 August 2017

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome (English)

1 reference

9 August 2017

1 reference

5

Joris Robert Vermeesch

2 references

ORCID Public Data File 2021

9 August 2017

Michael Suttie

object named as

Michael Suttie

3

1 reference

ORCID Public Data File 2021

author name string

Peter Hammond

1

1 reference

9 August 2017

Femke Hannes

2

1 reference

9 August 2017

Koen Devriendt

4

1 reference

9 August 2017

Francesca Faravelli

6

1 reference

9 August 2017

Francesca Forzano

7

1 reference

9 August 2017

Susan Parekh

8

1 reference

9 August 2017

Steve Williams

9

1 reference

9 August 2017

Dominic McMullan

10

1 reference

9 August 2017

Sarah T South

11

1 reference

9 August 2017

John C Carey

12

1 reference

9 August 2017

Oliver Quarrell

13

1 reference

9 August 2017

27 July 2011

1 reference

European Journal of Human Genetics

9 August 2017

1 reference

9 August 2017

20

1 reference

9 August 2017

1

1 reference

9 August 2017

33-40

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.135

9 August 2017

0 references

cites work

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Discriminating power of localized three-dimensional facial morphology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

GTF2IRD1 in craniofacial development of humans and mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Facial surface analysis by 3D laser scanning and geometric morphometrics in relation to sexual dimorphism in cerebral--craniofacial morphogenesis and cognitive function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

The etiology of Wolf-Hirschhorn syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Wolf-Hirschhorn (4p-) syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

The Wolf-Hirschhorn syndrome. I. Genetics.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Deletion of short arms of chromosome 4?5 in a child with defects of midline fusion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Deficiency on the short arms of a chromosome No. 4

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Face-brain asymmetry in autism spectrum disorders.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Three-dimensional face shape in Fabry disease.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Reproducibility of soft tissue landmarks on three-dimensional facial scans.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Expression of FGFRL1, a novel fibroblast growth factor receptor, during embryonic development.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

3D analysis of facial morphology.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Estimating average growth trajectories in shape-space using kernel smoothing.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234504

Misanthropy, idealism and attitudes towards animals

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.135

MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21792232

12 December 2020

inferred from PubMed ID database lookup

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21792232

12 December 2020

inferred from PubMed ID database lookup

The use of 3D face shape modelling in dysmorphology

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21792232

12 December 2020

inferred from PubMed ID database lookup

Report on trisomies 18 and a trisomy 18 mosaicism

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.135

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2011.135

1 reference

9 August 2017

1 reference

9 August 2017

1 reference