(Q54857775)

7 June 2018

title

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. (English)

1 reference

7 June 2018

main subject

Bohring-Opitz syndrome

1 reference

inferred from title

author

Catherine A. Brownstein

8

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7 June 2018

Avi Rosenberg

11

1 reference

7 June 2018

Leslie G Biesecker

3

object named as

Leslie G Biesecker

1 reference

7 June 2018

Bianca Russell

1

1 reference

7 June 2018

Jennifer J Johnston

2

1 reference

7 June 2018

Nancy Kramer

4

1 reference

7 June 2018

Angela Pickart

5

1 reference

7 June 2018

William Rhead

6

1 reference

7 June 2018

Wen-Hann Tan

7

1 reference

7 June 2018

L Kate Clarkson

9

1 reference

7 June 2018

Amy Dobson

10

1 reference

7 June 2018

Samantha A Schrier Vergano

12

1 reference

7 June 2018

Benjamin M Helm

13

1 reference

7 June 2018

Rachel E Harrison

14

1 reference

7 June 2018

John M Graham

15

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7 June 2018

language of work or name

English

0 references

publication date

29 April 2015

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7 June 2018

American Journal of Medical Genetics

published in

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7 June 2018

volume

167A

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7 June 2018

issue

9

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7 June 2018

page(s)

2122-2131

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7 June 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

1 reference

Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Expanding our knowledge of conditions associated with the ASXL gene family

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

The HARE-HTH and associated domains: novel modules in the coordination of epigenetic DNA and protein modifications

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11

8 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

8 June 2018

https://api.crossref.org/works/10.1002%2FAJMG.A.37131

Siblings with Bohring-Opitz syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

"C" trigonocephaly syndrome with diaphragmnatic hernia

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Further delineation of the C (trigonocephaly) syndrome

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

De novo nonsense mutations in ASXL1 cause Bohring-Opitz 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=4760347

A case of probable Bohring-Opitz syndrome with medulloblastoma.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Evolution of a patient with Bohring-Opitz 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=4760347

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Trisomy of 3pter in a patient with apparent C (trigonocephaly) 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=4760347

Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

The Opitz trigonocephaly syndrome. A case report

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760347

Infantile high myopia in Bohring-Opitz syndrome

13 August 2018

1 reference

12 December 2020

Severe end of Opitz trigonocephaly C syndrome

1 reference

12 December 2020

1 reference

12 December 2020

A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome

1 reference

12 December 2020

New cases of Bohring-Opitz syndrome, update, and critical review of the literature

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.37131

1 reference

7 June 2018

PMCID

4760347

1 reference

7 June 2018

PubMed ID

25921057

1 reference

7 June 2018