Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype (Q36170418)

12 August 2017

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype (English)

1 reference

12 August 2017

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5

Gen Nishimura

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12 August 2017

Masayo Kagami

1

1 reference

12 August 2017

Fumiko Kato

2

1 reference

12 August 2017

Keiko Matsubara

3

1 reference

12 August 2017

Tomoko Sato

4

1 reference

12 August 2017

Tsutomu Ogata

6

1 reference

12 August 2017

language of work or name

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22 February 2012

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European Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

20

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12 August 2017

9

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12 August 2017

928-932

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Uniparental disomies 7 and 14.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Epigenetic regulation of growth: lessons from Silver-Russell syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Genomic imprinting at the mammalian Dlk1-Dio3 domain

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

The occurrence of aneuploidy in human: lessons from the cytogenetic studies of human oocytes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Effects of male age on the frequencies of germinal and heritable chromosomal abnormalities in humans and rodents

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

American College of Medical Genetics statement of diagnostic testing for uniparental disomy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421115

Paternal UPD14 is responsible for a distinctive malformation complex

23 September 2018

1 reference

12 December 2020

Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation

1 reference

12 December 2020

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

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12 December 2020

Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty

1 reference

12 December 2020

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

1 reference

12 December 2020

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

1 reference

12 December 2020

Placentomegaly in paternal uniparental disomy for human chromosome 14

1 reference

12 December 2020

Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.26

1 reference

Dimensions Publication ID

12 August 2017

0 references

1 reference

12 August 2017

PubMed publication ID

22353941

1 reference