Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. (Q35247684)

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Language	Label	Description	Also known as
English	Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.	scientific article

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scholarly article

1 reference

Europe PubMed Central

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

7 October 2019

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

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7 October 2019

Miller–Dieker lissencephaly syndrome

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author name string

Schwartz CE

1

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7 October 2019

Johnson JP

2

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7 October 2019

Holycross B

3

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7 October 2019

Mandeville TM

4

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7 October 2019

Sears TS

5

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7 October 2019

Graul EA

6

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7 October 2019

Carey JC

7

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7 October 2019

Schroer RJ

8

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7 October 2019

Phelan MC

9

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7 October 2019

Szollar J

10

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7 October 2019

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1 November 1988

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7 October 2019

American Journal of Human Genetics

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7 October 2019

43

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7 October 2019

5

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7 October 2019

597-604

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7 October 2019

LISSENCEPHALY IN 2 SIBLINGS.

1 reference

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12 July 2018

A new R-banding technique in clinical cytogenetics

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12 July 2018

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

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12 July 2018

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

1 reference

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12 July 2018

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

1 reference

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12 July 2018

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

1 reference

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12 July 2018

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

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12 July 2018

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

1 reference

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12 July 2018

A genetic linkage map of the human genome.

1 reference

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12 July 2018

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

1 reference

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

12 July 2018

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

1 reference

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12 July 2018

Developmental aspects of lissencephaly and the lissencephaly syndromes

1 reference

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

12 July 2018

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

1 reference

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12 July 2018

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

1 reference

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

12 July 2018

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

1 reference

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12 July 2018

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

1 reference

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12 July 2018

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

1 reference

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

12 July 2018

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

1 reference

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

12 July 2018

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

1 reference

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

12 July 2018

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

1 reference

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

12 July 2018

Chromosome 5 allele loss in human colorectal carcinomas.

1 reference

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12 July 2018

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

1 reference

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12 July 2018

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

1 reference

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12 July 2018

High Resolution of Human Chromosomes

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12 July 2018

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

1 reference

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12 July 2018

The MIller-Dieker syndrome

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26 September 2018

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

1 reference

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26 September 2018

A rapid banding technique for human chromosomes

1 reference

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12 December 2020

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1 reference

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12 December 2020

based on heuristic

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

1 reference

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12 December 2020

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

1 reference

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12 December 2020

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

1 reference

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based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903661

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based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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1 reference

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7 October 2019

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7 October 2019

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