Maternal uniparental disomy 7 in Silver-Russell syndrome (Q33678238)

28 July 2017

title

Maternal uniparental disomy 7 in Silver-Russell syndrome (English)

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28 July 2017

Preece MA

1

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28 July 2017

Price SM

2

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28 July 2017

Davies V

3

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28 July 2017

Clough L

4

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28 July 2017

Stanier P

5

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28 July 2017

Trembath RC

6

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28 July 2017

Moore GE

7

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28 July 2017

language of work or name

English

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publication date

1 January 1997

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

1

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28 July 2017

page(s)

6-9

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A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples).

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050838

Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050838

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050838

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050838

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050838

Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth 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=1050838

Cognitive abilities associated with the Silver-Russell 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=1050838

Cross sectional stature and weight reference curves for the UK, 1990

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050838

Adolescent growth and pubertal progression in the Silver-Russell 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=1050838

Uniparental disomy as a mechanism for human 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=1050838

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050838

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050838

The Natural History of the Silver-Russell Syndrome: A Longitudinal Study of Thirty-nine 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=1050838

Report of the second international workshop on human chromosome 7 mapping 1994

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050838

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9032641

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.1.6

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28 July 2017

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28 July 2017

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