(Q35247800)

7 August 2017

title

Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome (English)

1 reference

Miller–Dieker lissencephaly syndrome

7 August 2017

main subject

0 references

2

W B Dobyns

1 reference

7 August 2017

P vanTuinen

1

1 reference

7 August 2017

D C Rich

3

1 reference

7 August 2017

K M Summers

4

1 reference

7 August 2017

T J Robinson

5

1 reference

7 August 2017

Y Nakamura

6

1 reference

7 August 2017

D H Ledbetter

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 November 1988

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

43

1 reference

7 August 2017

issue

5

1 reference

7 August 2017

page(s)

587-596

1 reference

LISSENCEPHALY IN 2 SIBLINGS.

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Further comments on the lissencephaly syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Developmental aspects of lissencephaly and the lissencephaly syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Variable number of tandem repeat (VNTR) markers for human gene mapping

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Contiguous gene syndromes: a component of recognizable syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

The gene for human p53 cellular tumor antigen is located on chromosome 17 short arm (17p13)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

A hypervariable RFLP on chromosome 17p13 is defined by an arbitrary single copy probe p144-D6 [HGM9 No. D17S34]

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Interstitial deletion of (17)(p11.2p11.2) in nine patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

A rapid alkaline extraction procedure for screening recombinant plasmid DNA

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

The MIller-Dieker syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

The gene encoding the large subunit of human RNA polymerase II is located on the short arm of chromosome 17.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715542

Chromosomal localization of a human myosin heavy-chain gene by in situ hybridization

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3189330

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular organization and haplotype analysis of centromeric DNA from human chromosome 17: implications for linkage in neurofibromatosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3189330

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Simultaneous identification of chromatid replication and of human chromosomes in metaphases of man-mouse somatic cell hybrids

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3189330

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1715542

1 reference

7 August 2017

1 reference