Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype. (Q34289568)

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9 February 2020

case report

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title

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype (English)

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9 February 2020

1 reference

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3

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9 February 2020

Shinji Saitoh

5

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9 February 2020

Tsutomu Ogata

8

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9 February 2020

author name string

K Yamazawa

1

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9 February 2020

K Nakabayashi

2

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9 February 2020

T Sato

4

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9 February 2020

R Horikawa

6

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9 February 2020

N Hizuka

7

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9 February 2020

language of work or name

English

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publication date

3 August 2010

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Journal of Medical Genetics

9 February 2020

published in

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volume

47

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9 February 2020

issue

11

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9 February 2020

page(s)

782-785

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Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome

9 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

The genetic aetiology of Silver-Russell syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Accurate quantification of DNA methylation using combined bisulfite restriction analysis coupled with the Agilent 2100 Bioanalyzer platform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Regulation of X-chromosome inactivation in development in mice and humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

A human parthenogenetic chimaera.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Completion of mouse embryogenesis requires both the maternal and paternal genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Growth disadvantage of 45,X and 46,X,del (X) (p11) fibroblasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Systematic elimination of parthenogenetic cells in mouse chimeras.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Systematic non-uniform distribution of parthenogenetic cells in adult mouse chimaeras.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Mechanisms of imprinting of the Prader-Willi/Angelman region.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Disruption of parental-specific expression of imprinted genes in uniparental fetuses.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976035

Buccal swabs but not mouthwash samples can be used to obtain pretransplant DNA fingerprints from recipients of allogeneic bone marrow transplants

28 October 2018

1 reference

12 December 2020

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

1 reference

12 December 2020

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports

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12 December 2020

Placental hypoplasia in maternal uniparental disomy for chromosome 7

1 reference

12 December 2020

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2010.079343

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20685670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20685670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

20685670

1 reference