American College of Medical Genetics statement of diagnostic testing for uniparental disomy (Q35034233)

5 August 2017

title

American College of Medical Genetics statement of diagnostic testing for uniparental disomy (English)

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5 August 2017

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L G Shaffer

1

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5 August 2017

N Agan

2

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5 August 2017

J D Goldberg

3

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5 August 2017

D H Ledbetter

4

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5 August 2017

J W Longshore

5

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5 August 2017

S B Cassidy

6

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5 August 2017

language of work or name

English

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publication date

1 May 2001

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5 August 2017

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5 August 2017

volume

3

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5 August 2017

issue

3

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5 August 2017

page(s)

206-211

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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).

5 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=3111049

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Genetics of Angelman syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Maternal uniparental disomy 7 in Silver-Russell syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Recombination and nondisjunction in humans and flies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Uniparental disomy for chromosome 16 in humans.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Beckwith-Wiedemann syndrome. An update and review for the primary pediatrician.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Uniparental disomy as a mechanism for human genetic disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Beckwith-Wiedemann syndrome, tumourigenesis and imprinting

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1097/00125817-200105000-00011

Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3111049

Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

9 December 2018

1 reference

12 December 2020

Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee

1 reference

12 December 2020

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

1 reference

12 December 2020

Cytogenetic and age-dependent risk factors associated with uniparental disomy 15

1 reference

12 December 2020

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus

1 reference

12 December 2020

Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus

1 reference

12 December 2020

Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD: European Collaborative Research on Mosaicism in CVS (EUCROMIC)

1 reference

12 December 2020

Incriminating gene suspects, Prader-Willi style

1 reference

12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

12 December 2020

Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome

1 reference

12 December 2020

10.1097/00125817-200105000-00011

Identifiers

DOI

1 reference

Dimensions Publication ID

5 August 2017

0 references

1 reference

5 August 2017

1 reference