(Q38478114)

3 September 2017

title

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

1 reference

3 September 2017

10

1 reference

3 September 2017

11

John M Opitz

1 reference

3 September 2017

Marcella Zollino

1

1 reference

3 September 2017

Rosetta Lecce

2

1 reference

3 September 2017

Angelo Selicorni

3

1 reference

3 September 2017

Marina Murdolo

4

1 reference

3 September 2017

Irene Mancuso

5

1 reference

3 September 2017

Giuseppe Marangi

6

1 reference

3 September 2017

Giuseppe Zampino

7

1 reference

3 September 2017

Livia Garavelli

8

1 reference

3 September 2017

Alessandra Ferrarini

9

1 reference

3 September 2017

Giovanni Neri

12

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3 September 2017

publication date

1 October 2004

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European Journal of Human Genetics

3 September 2017

published in

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3 September 2017

volume

12

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3 September 2017

issue

10

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3 September 2017

page(s)

797-804

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201203

3 September 2017

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

Partial trisomy 1(q42-->qter): a new case with a mild phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

4p- Syndrome: A Chromosomal Disorder Associated with a Particular EEG Pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

inferred from DOI database lookup

7 January 2021

based on heuristic

High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201203

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201203

1 reference

3 September 2017

1 reference