(Q28292748)

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8 June 2024

chromosome fragility

1 reference

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chromosomal deletion syndrome

8 June 2024

1 reference

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8 June 2024

8

G R Sutherland

0 references

Teresa Mattina

3

object named as

T. Mattina

1 reference

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8 June 2024

author name string

C. Jones

1

1 reference

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8 June 2024

L. Penny

2

1 reference

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8 June 2024

S. Yu

4

1 reference

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8 June 2024

E. Baker

5

1 reference

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8 June 2024

L. Voullaire

6

1 reference

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8 June 2024

W. Y. Langdon

7

1 reference

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8 June 2024

R. I. Richards

9

1 reference

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8 June 2024

A. Tunnacliffe

10

1 reference

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full work available at URL

8 June 2024

language of work or name

English

0 references

publication date

13 July 1995

0 references

http://www.nature.com/articles/376145a0

1 reference

https://api.crossref.org/works/10.1038/376145A0

http://www.nature.com/articles/376145a0.pdf

8 June 2024

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/376145A0

8 June 2024

0 references

376

0 references

issue

6536

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page(s)

145-9

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cites work

The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites.

1 reference

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7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

1 reference

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7 January 2021

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Constitutional chromosomal breakage.

1 reference

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7 January 2021

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation

1 reference

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7 January 2021

FRAXE and mental retardation

1 reference

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7 January 2021

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2F376145A0

7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

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7 January 2021

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

1 reference

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7 January 2021

Absence of expression of the FMR-1 gene in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2F376145A0

7 January 2021

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

1 reference

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7 January 2021

Dynamic mutations: a new class of mutations causing human disease

1 reference

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7 January 2021

Relationship of the human protooncogene CBL2 on 11q23 to the t(4;11), t(11;22), and t(11;14) breakpoints

1 reference

https://api.crossref.org/works/10.1038%2F376145A0

7 January 2021

A physical linkage group in human chromosome band 11q23 covering a region implicated in leukocyte neoplasia

1 reference

https://api.crossref.org/works/10.1038%2F376145A0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2F376145A0

7 January 2021

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

1 reference

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7 January 2021

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene

1 reference

https://api.crossref.org/works/10.1038%2F376145A0

7 January 2021

Dynamic mutations hit double figures

1 reference

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7 January 2021

Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage

1 reference

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7 January 2021

The chromosomal basis of human neoplasia.

1 reference

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7 January 2021

The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

1 reference

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7 January 2021

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

1 reference

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7 January 2021

Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer

1 reference

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7 January 2021

Mutation of a mutL homolog in hereditary colon cancer

1 reference

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7 January 2021

Microsatellite instability in cancer of the proximal colon

1 reference

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7 January 2021

Microsatellite alterations as clonal markers for the detection of human cancer

1 reference

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7 January 2021

The 1993-94 Généthon human genetic linkage map

1 reference

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7 January 2021

Familial X-linked mental retardation with an X chromosome abnormality

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11

1 reference

Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings

8 June 2024

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29

1 reference

8 June 2024

43

53

5853

P Peltomäki

1993

1 reference

https://api.crossref.org/works/10.1038/376145A0

Dimensions Publication ID

8 June 2024

Identifiers

DOI

10.1038/376145A0

0 references

1034617886

0 references

Fatcat ID

release_ravcpq67zbbbtbome7s44pu64u

0 references