(Q30486093)

20 August 2017

Pathogenesis of vestibular schwannoma in ring chromosome 22 (English)

1 reference

20 August 2017

1 reference

vestibular schwannoma

1 reference

4

1 reference

20 August 2017

8

Maria Debiec-Rychter

1 reference

20 August 2017

7

Raf Sciot

1 reference

ORCID Public Data File 2021

20 August 2017

1 reference

Hilde Brems

2

object named as

Hilde Brems

1 reference

20 August 2017

5

Frank Van Calenbergh

1 reference

20 August 2017

11

Eric Legius

1 reference

20 August 2017

Ellen Denayer

1

1 reference

20 August 2017

Paul de Cock

3

1 reference

20 August 2017

Naomi Bowers

6

1 reference

20 August 2017

Joris V Vermeesch

9

1 reference

20 August 2017

22 September 2009

1 reference

20 August 2017

1 reference

20 August 2017

10

1 reference

20 August 2017

97

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-10-97

20 August 2017

0 references

cites work

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Molecular and phenotypic characterization of ring chromosome 22

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Ring chromosome 17: phenotype variation by deletion size

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Ring chromosome 22 and autism: report and review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Boy with a ring 7 chromosome: a case report with special reference to dermatological findings.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Asymmetry and skin pigmentary anomalies in chromosome mosaicism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Multifocal meningiomas in a patient with a constitutional ring chromosome 22.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Ring chromosome 11 and café-au-lait spots

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Chromosome mosaicism in hypomelanosis of Ito.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Ring chromosome 22 and neurofibromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Constitutional ring chromosomes and tumour suppressor genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Five new subjects with ring chromosome 22

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-10-97

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-10-97

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-10-97

A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758865

On the duplication of circular structures

26 November 2018

1 reference

12 December 2020

Neurofibromatosis in a man with a ring 22: in situ hybridization studies

1 reference

12 December 2020

Multiple meningiomas in a patient with constitutional ring chromosome 22

1 reference

12 December 2020

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2

1 reference

12 December 2020

Long-term culture and characterization of human neurofibroma-derived Schwann cells

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-10-97

1 reference

Dimensions Publication ID

20 August 2017

0 references

1 reference

20 August 2017

1 reference