(Q33490677)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887422%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Clinical and molecular characterization of patients with distal 11q deletions (English)

1 reference

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27 October 2019

author name string

Penny LA

1

1 reference

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27 October 2019

Dell'Aquila M

2

1 reference

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27 October 2019

Jones MC

3

1 reference

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27 October 2019

Bergoffen J

4

1 reference

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27 October 2019

Cunniff C

5

1 reference

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27 October 2019

Fryns JP

6

1 reference

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27 October 2019

Grace E

7

1 reference

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27 October 2019

Graham JM Jr

8

1 reference

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27 October 2019

Kousseff B

9

1 reference

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27 October 2019

Mattina T

10

1 reference

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27 October 2019

language of work or name

English

0 references

publication date

1 March 1995

1 reference

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American Journal of Human Genetics

27 October 2019

published in

1 reference

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27 October 2019

volume

56

1 reference

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27 October 2019

issue

3

1 reference

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27 October 2019

page(s)

676-683

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887422%20AND%20SRC:MED&resulttype=core&format=json

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

27 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=1801184

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Yeast artificial chromosome cloning of 3.2 megabases within chromosomal band 11q24 closely linking c-ets 1 and Fli-1 and encompassing the Ewing sarcoma breakpoint

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

The 1993-94 Généthon human genetic linkage map

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Induction of sister chromatid exchanges at common fragile sites

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Erythroleukemia induction by Friend murine leukemia virus: insertional activation of a new member of the ets gene family, Fli-1, closely linked to c-ets-1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Localization of the gene encoding R kappa B (NFRKB), a tissue-specific DNA binding protein, to chromosome 11q24-q25

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801184

Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.

31 October 2018

1 reference

12 December 2020

Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q

1 reference

12 December 2020

Deletion of the long arm of chromosome 11 [46,XX,del(11)(q24.1--qter)]

1 reference

12 December 2020

Fragile sites, chromosome evolution, and human neoplasia

1 reference

12 December 2020

Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23

1 reference

12 December 2020

Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887422%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

7887422

1 reference