(Q33680746)

28 July 2017

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay (English)

1 reference

28 July 2017

F L Long

1

1 reference

28 July 2017

D P Duckett

2

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28 July 2017

L J Billam

3

1 reference

28 July 2017

D K Williams

4

1 reference

28 July 2017

J A Crolla

5

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28 July 2017

language of work or name

English

0 references

publication date

1 May 1998

1 reference

Journal of Medical Genetics

28 July 2017

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28 July 2017

35

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28 July 2017

425-428

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28 July 2017

5

1 reference

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Intrachromosomal triplication of 15q11-q13.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Inv dup(15) supernumerary marker chromosomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Forty four probands with an additional "marker" chromosome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

A simple salting out procedure for extracting DNA from human nucleated cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal mother

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051320

14 July 2018

Identifiers

DOI

10.1136/JMG.35.5.425

1 reference

28 July 2017

1 reference

28 July 2017

1 reference