(Q35432666)

8 August 2017

title

An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands (English)

1 reference

8 August 2017

main subject

Silver-Russell syndrome

1 reference

Preece MA

1

1 reference

8 August 2017

Abu-Amero SN

2

1 reference

8 August 2017

Ali Z

3

1 reference

8 August 2017

Abu-Amero KK

4

1 reference

8 August 2017

Wakeling EL

5

1 reference

8 August 2017

Stanier P

6

1 reference

8 August 2017

Moore GE

7

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 June 1999

1 reference

Journal of Medical Genetics

8 August 2017

published in

1 reference

8 August 2017

volume

36

1 reference

8 August 2017

issue

6

1 reference

8 August 2017

page(s)

457-460

1 reference

Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy

8 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=1734382

Maternal uniparental disomy 7 in Silver-Russell 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=1734382

Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

Nondisjunction of chromosome 15: origin and recombination

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

Adolescent growth and pubertal progression in the Silver-Russell 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=1734382

Uniparental disomy as a mechanism for human genetic disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

The Natural History of the Silver-Russell Syndrome: A Longitudinal Study of Thirty-nine Cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734382

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation

24 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10874633

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Silver-Russell syndrome and exclusion of uniparental disomy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10874633

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1734382

1 reference

8 August 2017

1 reference