(Q41235658)

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14 October 2019

title

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9 (English)

1 reference

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14 October 2019

1 reference

1

1 reference

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14 October 2019

author name string

T Wagner

2

1 reference

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14 October 2019

J Meyer

3

1 reference

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14 October 2019

R A Pfeiffer

4

1 reference

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14 October 2019

H U Tietze

5

1 reference

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14 October 2019

W Schempp

6

1 reference

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14 October 2019

G Scherer

7

1 reference

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14 October 2019

publication date

1 February 1996

1 reference

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14 October 2019

1 reference

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14 October 2019

volume

97

1 reference

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14 October 2019

issue

2

1 reference

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14 October 2019

page(s)

186-193

1 reference

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Three breakpoints of variant t(2;8) translocations in Burkitt's lymphoma cells fall within a region 140 kilobases distal from c-myc

14 October 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02265263

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Variable breakpoints in Burkitt lymphoma cells with chromosomal t(8;14) translocation separate c-myc and the IgH locus up to several hundred kb.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

The 1993-94 Généthon human genetic linkage map

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Position-effect variegation and intercalary heterochromatin: a comparative study.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Genetic control over the inactivation of autosomal genes attached to the X-chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Acampomelic campomelic dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

The human PAX6 gene is mutated in two patients with aniridia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Towards an understanding of position effect variegation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Human globin locus activation region (LAR): role in temporal control

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Isolation of chromosome 21-specific yeast artificial chromosomes from a total human genome library

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566951

12 December 2020

Identifiers

DOI

10.1007/BF02265263

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566951%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

14 October 2019

1045585130

0 references

1 reference