Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive (Q34687380)

3 August 2017

title

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive (English)

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3 August 2017

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Oropharyngeal dysphagia

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Feng Zhang

6

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James R. Lupski

7

object named as

James R Lupski

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3 August 2017

Claudia Soler-Alfonso

1

object named as

Claudia Soler-Alfonso

1 reference

3 August 2017

Patricia Robbins-Furman

4

object named as

Patricia Robbins-Furman

1 reference

3 August 2017

Kathleen J Motil

2

1 reference

3 August 2017

Catherine L Turk

3

1 reference

3 August 2017

Ellen M Friedman

5

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3 August 2017

J Kennard Fraley

8

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3 August 2017

Lorraine Potocki

9

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3 August 2017

language of work or name

English

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publication date

17 December 2010

1 reference

The Journal of Pediatrics

3 August 2017

published in

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3 August 2017

volume

158

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3 August 2017

issue

4

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3 August 2017

page(s)

655-659.e2

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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

3 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=3059370

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059370

10.1016/J.JPEDS.2010.09.062

26 October 2018

Identifiers

DOI

1 reference

release_suy63iexlbh5hjbfgkhwdaxdue

3 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/suy63iexlbh5hjbfgkhwdaxdue

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

3059370

1 reference

3 August 2017

1 reference