Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14 (Q61855375)

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English	Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14	No description defined

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instance of

scholarly article

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title

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14 (English)

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author

Reiner Schulz

object named as

Reiner Schulz

series ordinal

5

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Amaka C. Offiah

object named as

Amaka Offiah

series ordinal

6

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Rebecca J. Oakey

object named as

Rebecca J Oakey

series ordinal

8

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author name string

Melita D Irving

series ordinal

1

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Karin Buiting

series ordinal

2

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Deniz Kanber

series ordinal

3

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Celia Donaghue

series ordinal

4

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Shehla N Mohammed

series ordinal

7

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language of work or name

English

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publication date

August 2010

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published in

American Journal of Medical Genetics

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volume

152A

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issue

8

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page(s)

1942-50

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cites work

Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms leading to uniparental disomy and their clinical consequences

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The atypical mammalian ligand Delta-like homologue 1 (Dlk1) can regulate Notch signalling in Drosophila

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of segmental paternal isodisomy of chromosome 14.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal UPD14 is responsible for a distinctive malformation complex

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetic detection of human chromosome 14 uniparental disomy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal uniparental disomy 14: introducing the "coat-hanger" sign

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental disomy for chromosome 14

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct phenotype in maternal uniparental disomy of chromosome 14.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal uniparental disomy for chromosome 14: a case report and review

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Another case of maternal uniparental disomy chromosome 14 syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage analysis and identification of deletion in Alagille syndrome gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imprinting in Prader-Willi and Angelman syndromes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complementation hypothesis: the necessity of a monoallelic gene expression mechanism in mammalian development.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnostic indicators of paternal uniparental disomy 14

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential regulation of imprinting in the murine embryo and placenta by the Dlk1-Dio3 imprinting control region

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal vertebral segmentation and the notch signaling pathway in man.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20602488

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/AJMG.A.33449

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PMC publication ID

3819653

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PubMed publication ID

20602488

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