SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation (Q37114387)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19058200%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation (English)

1 reference

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18 January 2020

6

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18 January 2020

Struan F.A. Grant

12

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18 January 2020

13

Hakon Hakonarson

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18 January 2020

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Tamim H Shaikh

1 reference

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18 January 2020

3

Xiaowu Gai

1 reference

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18 January 2020

4

Laura K Conlin

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18 January 2020

15

Nancy B Spinner

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18 January 2020

11

David A Piccoli

1 reference

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18 January 2020

14

Ian D Krantz

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18 January 2020

author name string

Binita M Kamath

1

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18 January 2020

Brian D Thiel

2

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18 January 2020

Pedro S Munoz

5

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18 January 2020

Dinah Clark

7

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18 January 2020

Daniel M Warthen

8

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18 January 2020

Ercan Mihci

10

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18 January 2020

publication date

1 March 2009

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18 January 2020

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18 January 2020

volume

30

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18 January 2020

issue

3

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18 January 2020

page(s)

371-378

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Genomic rearrangements and sporadic disease

18 January 2020

cites work

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Global variation in copy number in the human genome

14 September 2017

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

14 September 2017

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High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

14 September 2017

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Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

14 September 2017

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The genetics of attention deficit hyperactivity disorder

14 September 2017

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Diagnostic genome profiling in mental retardation

14 September 2017

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Array-based comparative genomic hybridization in clinical diagnosis

14 September 2017

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Segmental duplications and copy-number variation in the human genome

14 September 2017

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Fine-scale structural variation of the human genome

14 September 2017

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Detection of large-scale variation in the human genome

14 September 2017

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Large-scale copy number polymorphism in the human genome

14 September 2017

1 reference

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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Facial features in Alagille syndrome: specific or cholestasis facies?

14 September 2017

1 reference

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Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review

14 September 2017

1 reference

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

14 September 2017

1 reference

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

14 September 2017

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Jagged-1 mutation analysis in Italian Alagille syndrome patients

14 September 2017

1 reference

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

14 September 2017

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Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder

14 September 2017

1 reference

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Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

14 September 2017

1 reference

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Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

14 September 2017

1 reference

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Features of Alagille syndrome in 92 patients: frequency and relation to prognosis

14 September 2017

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A chromosomal deletion map of human malformations.

14 September 2017

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Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

14 September 2017

1 reference

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

14 September 2017

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The molecular basis of genetic dominance

14 September 2017

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Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

14 September 2017

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Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

14 September 2017

1 reference

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Alagille syndrome and deletion of 20p.

14 September 2017

1 reference

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Deletion of short-arm of chromosome 20:46 XX, del (20) (p 11) with unusual skeletal features

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Alagille syndrome with de Novo del(20) (p 11.2)

14 September 2017

1 reference

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Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases

14 September 2017

1 reference

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Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?

14 September 2017

1 reference

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Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

27 June 2018

1 reference

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A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].

3 September 2018

1 reference

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Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Savant characteristics in a child with developmental delay and deletion in the short arm of chromosome 20.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Del(20p) with manifestations of arteriohepatic dysplasia

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650004

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage

4 December 2018

1 reference

12 December 2020

Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion

1 reference

12 December 2020

Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome

1 reference

12 December 2020

Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism

1 reference

12 December 2020

Deletion of the short arm of chromosome 20

1 reference

12 December 2020

Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome)

1 reference

12 December 2020

Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome)

1 reference

12 December 2020

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

1 reference

12 December 2020

Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization

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12 December 2020

Identifiers

DOI

10.1002/HUMU.20863

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19058200%20AND%20SRC:MED&resulttype=core&format=json

release_6thgglfxanfancqpkny7ms4z5y

18 January 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/6thgglfxanfancqpkny7ms4z5y

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19058200%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

19058200

1 reference