(Q38470203)

3 September 2017

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement (English)

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3 September 2017

12

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3 September 2017

Christine Fauth

1

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3 September 2017

Susan M Gribble

2

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3 September 2017

Keith M Porter

3

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3 September 2017

Montserrat Codina-Pascual

4

1 reference

3 September 2017

Bee Ling Ng

5

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3 September 2017

Jürgen Kraus

6

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3 September 2017

Sabine Uhrig

7

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3 September 2017

Jürgen Leifheit

8

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3 September 2017

Thomas Haaf

9

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3 September 2017

Heike Fiegler

10

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3 September 2017

Nigel P Carter

11

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3 September 2017

3 January 2006

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3 September 2017

1 reference

3 September 2017

119

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3 September 2017

1-2

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3 September 2017

145-153

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https://scigraph.springernature.com/pub.10.1007/s00439-005-0103-z

3 September 2017

0 references

cites work

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics

1 reference

12 December 2020

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

1 reference

12 December 2020

An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH.

1 reference

12 December 2020

Hereditary persistence of fetal haemoglobin (HPFH) in conjunction with a chromosomal translocation involving the haemoglobin β locus

1 reference

12 December 2020

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

1 reference

12 December 2020

Complex chromosome rearrangements. Report of a new case and literature review

1 reference

12 December 2020

Karyotyping human chromosomes by combinatorial multi-fluor FISH.

1 reference

12 December 2020

FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

1 reference

12 December 2020

Balanced complex chromosome rearrangement ascertained through prenatal diagnosis

1 reference

12 December 2020

Complex de novo rearrangement involving four chromosomes and ten break points with interstitial deletions and duplication

1 reference

12 December 2020

A de novo complex chromosomal rearrangement with nine breakpoints characterized by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly

1 reference

12 December 2020

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

1 reference

12 December 2020

Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23.

1 reference

12 December 2020

Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults

1 reference

12 December 2020

The new cytogenetics: blurring the boundaries with molecular biology

1 reference

12 December 2020

Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping

1 reference

12 December 2020

The Ensembl genome database project

1 reference

12 December 2020

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

1 reference

12 December 2020

A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome

1 reference

12 December 2020

Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR

1 reference

12 December 2020

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

1 reference

12 December 2020

10.1007/S00439-005-0103-Z

Identifiers

DOI

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Dimensions Publication ID

3 September 2017

1019232477

0 references

Fatcat ID

release_oi57qsq7brfinfsmt5pilnakey

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/oi57qsq7brfinfsmt5pilnakey

24 November 2022

mapped directly with Wikidata item

1 reference