(Q33679366)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Partington MW

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Fagan K

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Soubjaki V

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Turner G

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 September 1997

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

719-728

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Fibroblast-growth-factor receptor mutations in human skeletal disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Pitt-Rogers-Danks syndrome: further delineation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Clinical manifestations of trisomy 4p syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Sotos syndrome: a study of the diagnostic criteria and natural history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

A comprehensive and critical assessment of overgrowth and overgrowth syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

The trisomy 4p syndrome: Case report and review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

21 June 2018

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

30 October 2018

Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051054

30 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321756

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common FGFR3 gene mutation in hypochondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321756

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321756

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A girl with the Pitt-Rogers-Danks syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321756

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321756

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.34.9.719

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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