(Q32024158)

5 July 2017

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements (English)

1 reference

5 July 2017

8

J Flint

1 reference

5 July 2017

S W Horsley

1

1 reference

5 July 2017

S J Knight

2

1 reference

5 July 2017

J Nixon

3

1 reference

5 July 2017

S Huson

4

1 reference

5 July 2017

M Fitchett

5

1 reference

5 July 2017

R A Boone

6

1 reference

5 July 2017

D Hilton-Jones

7

1 reference

5 July 2017

L Kearney

9

1 reference

5 July 2017

language of work or name

English

0 references

publication date

1 September 1998

1 reference

Journal of Medical Genetics

5 July 2017

1 reference

5 July 2017

35

1 reference

5 July 2017

722-726

1 reference

5 July 2017

9

1 reference

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

5 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Multicolor Spectral Karyotyping of Human Chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Karyotyping human chromosomes by combinatorial multi-fluor FISH.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Identification and characterization of a spinal muscular atrophy-determining gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Trisomy 2p: analysis of unusual phenotypic findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Sequence organization of the human chromosome 2q telomere.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Physical mapping of the holoprosencephaly critical region in 18p11.3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Partial deletion of distal 17q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Single maxillary central incisor in a girl with del(18p) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051423

A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p- syndrome

21 June 2018

1 reference

12 December 2020

Single mandibular incisor in a patient with del (18p) anomaly

1 reference

12 December 2020

18p monosomy with GH-deficiency and empty sella: good response to GH-treatment

1 reference

12 December 2020

Gonadal dysgenesis in del(18p) syndrome

1 reference

12 December 2020

The phenotype of a 45,X male with a Y/18 translocation

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.9.722

1 reference

5 July 2017

1 reference

5 July 2017

1 reference