(Q33683305)

28 July 2017

Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study (English)

1 reference

28 July 2017

Wolf-Hirschhorn syndrome

1 reference

Reid E

1

1 reference

28 July 2017

Morrison N

2

1 reference

28 July 2017

Barron L

3

1 reference

28 July 2017

Boyd E

4

1 reference

28 July 2017

Cooke A

5

1 reference

28 July 2017

Fielding D

6

1 reference

28 July 2017

Tolmie JL

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 March 1996

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

33

1 reference

28 July 2017

197-202

1 reference

28 July 2017

3

1 reference

De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Deficiency on the short arms of a chromosome No. 4

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Novel non-isotopic in situ hybridization technique detects small (1 Kb) unique sequences in routinely G-banded human chromosomes: fine mapping of N-myc and beta-NGF genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

BamHI RFLP at the insulin-like growth factor II (IGF2) locus on chromosome 11

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051867

A practical application of fluorescent in situ hybridization to the Wolf-Hirschhorn syndrome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8728691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8728691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8728691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.3.197

1 reference

28 July 2017

1 reference

28 July 2017

1 reference