(Q51904054)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid (English)

1 reference

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7 February 2020

1 reference

2

1 reference

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7 February 2020

Terry Jo V. Bichell

6

1 reference

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7 February 2020

Qin Sun

12

1 reference

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7 February 2020

3

Virginia Kimonis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Sarika U Peters

1

1 reference

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7 February 2020

Daniel G Glaze

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Lina M Shinawi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Rene Barbieri-Welge

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Mark Nespeca

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Irina Anselm

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Susan Waisbren

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Erica Sanborn

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

William E O'Brien

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Arthur L Beaudet

14

1 reference

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7 February 2020

Carlos A Bacino

15

1 reference

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7 February 2020

language of work or name

English

0 references

publication date

1 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

7 February 2020

published in

1 reference

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7 February 2020

volume

152A

1 reference

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7 February 2020

issue

8

1 reference

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7 February 2020

page(s)

1994-2001

1 reference

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A study of the treatment of Rett syndrome with folate and betaine

7 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=3172130

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Maternal methyl supplements in mice affect epigenetic variation and DNA methylation of offspring

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Genetics of Angelman syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Imprinting in Angelman and Prader-Willi syndromes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Genetic counseling in Angelman syndrome: the challenges of multiple causes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Imprinting mutations on human chromosome 15.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Structure and function of the human chromosome 15 imprinting center

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

UBE3A/E6-AP mutations cause Angelman syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Genomic imprinting: significance in development and diseases and the molecular mechanisms

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Autism in Angelman syndrome: a population-based study

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

The Angelman ("happy puppet") syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Angelman syndrome: clinical profile

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Reassessing folic acid consumption patterns in the United States (1999 2004): potential effect on neural tube defects and overexposure to folate.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Angelman syndrome 2005: updated consensus for diagnostic criteria.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Implementation and outcomes of recommended folic acid supplementation in Mexican-American women with prior neural tube defect-affected pregnancies

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Autism in Angelman syndrome: implications for autism research.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172130

Methylation demand and homocysteine metabolism: effects of dietary provision of creatine and guanidinoacetate

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33509

Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

21 January 2018

1 reference

12 December 2020

Folic acid and neural tube defect: can't we come to closure?

1 reference

12 December 2020

Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome

1 reference

12 December 2020

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

1 reference

12 December 2020

Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy

1 reference

12 December 2020

Folate levels and neural tube defects. Implications for prevention

1 reference

12 December 2020

A survey of knowledge and use of folic acid among women of child-bearing age in Dublin

1 reference

12 December 2020

Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

1 reference

12 December 2020

Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years

1 reference

12 December 2020

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

1 reference

12 December 2020

Moderate folate depletion increases plasma homocysteine and decreases lymphocyte DNA methylation in postmenopausal women

1 reference

12 December 2020

Methylation demand and homocysteine metabolism

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33509

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635355%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

20635355

1 reference