(Q35247684)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

title

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

Miller–Dieker lissencephaly syndrome

7 October 2019

main subject

0 references

author name string

Schwartz CE

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

Johnson JP

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

Holycross B

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

Mandeville TM

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

Sears TS

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

Graul EA

6

1 reference

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7 October 2019

Carey JC

7

1 reference

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7 October 2019

Schroer RJ

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

Phelan MC

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

Szollar J

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

language of work or name

English

0 references

publication date

1 November 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

7 October 2019

published in

1 reference

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7 October 2019

volume

43

1 reference

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7 October 2019

issue

5

1 reference

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7 October 2019

page(s)

597-604

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

LISSENCEPHALY IN 2 SIBLINGS.

7 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

A new R-banding technique in clinical cytogenetics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

A genetic linkage map of the human genome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Developmental aspects of lissencephaly and the lissencephaly syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Progress towards construction of a total restriction fragment map of a human chromosome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Isolation and mapping of a polymorphic DNA sequence pYNH37.3 on chromosome 17p [D17S28]

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Chromosome 5 allele loss in human colorectal carcinomas.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

High Resolution of Human Chromosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

The MIller-Dieker syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715525

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=1715525

A rapid banding technique for human chromosomes

26 September 2018

1 reference

12 December 2020

Chiasma derived genetic maps and recombination fractions: chromosome 1

1 reference

12 December 2020

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

12 December 2020

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

12 December 2020

Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome

1 reference

12 December 2020

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

12 December 2020

Physical mapping studies on the human X chromosome in the region Xq27-Xqter

1 reference

12 December 2020

The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2903661%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

1 reference