(Q34325417)

1 August 2017

0 references

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

1 reference

1 August 2017

1 reference

Wolf-Hirschhorn syndrome

1 reference

4

Joris R Vermeesch

1 reference

1 August 2017

Hannelie Engbers

1

1 reference

1 August 2017

Jasper J van der Smagt

2

1 reference

1 August 2017

Ruben van 't Slot

3

1 reference

1 August 2017

Ron Hochstenbach

5

1 reference

1 August 2017

Martin Poot

6

1 reference

1 August 2017

publication date

1 October 2008

1 reference

European Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

17

1 reference

1 August 2017

issue

1

1 reference

1 August 2017

page(s)

129-132

1 reference

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

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985965

The etiology of Wolf-Hirschhorn syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985965

Characterization of FGFRL1, a novel fibroblast growth factor (FGF) receptor preferentially expressed in skeletal tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985965

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985965

An optimized set of human telomere clones for studying telomere integrity and architecture.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985965

From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985965

Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.168

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.168

Subtelomeric imbalances in phenotypically normal individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.168

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985965

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

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18830230

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.168

1 reference

1 August 2017

1 reference

1 August 2017

1 reference