(Q33676373)

English

Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism (English)

1 reference

Europe PubMed Central

28 July 2017

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author name string

Pilz DT

1

1 reference

Europe PubMed Central

28 July 2017

Dalton A

2

1 reference

Europe PubMed Central

28 July 2017

Long A

3

1 reference

Europe PubMed Central

28 July 2017

Jaspan T

4

1 reference

Europe PubMed Central

28 July 2017

Maltby EL

5

1 reference

Europe PubMed Central

28 July 2017

Quarrell OW

6

1 reference

Europe PubMed Central

28 July 2017

language of work or name

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publication date

1 April 1995

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Europe PubMed Central

28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

28 July 2017

32

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Europe PubMed Central

28 July 2017

4

1 reference

Europe PubMed Central

28 July 2017

275-278

1 reference

Europe PubMed Central

28 July 2017

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Diagnostic criteria for Walker-Warburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Diagnostic features and clinical signs of 21 patients with lissencephaly type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Causal heterogeneity in isolated lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Formation, maturation, and disorders of brain neocortex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Minireview: cryptic translocations and telomere integrity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

21 June 2018

Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050374

30 October 2018

Identifiers

10.1136/JMG.32.4.275

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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