(Q57263752)

8

object named as

Hildegard Kehrer-Sawatzki

0 references

Lan Kluwe

2

object named as

Lan Kluwe

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author name string

Katharina Steinmann

1

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Hilde Brems

4

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Thomas De Raedt

5

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Eric Legius

6

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Viktor-Felix Mautner

European Journal of Human Genetics

7

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publication date

23 January 2008

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published in

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volume

16

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issue

5

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page(s)

572-580

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cites work

Genetic variation in human disease and a new role for copy number variants

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

Widening the spectrum of human genetic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Structural variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Copy number variation: new insights in genome diversity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Human genomics: In search of normality

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

What a difference copy number variation makes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Large-scale copy number polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Segmental duplications and copy-number variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Accurate and reliable high-throughput detection of copy number variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Genome assembly comparison identifies structural variants in the human genome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

A comprehensive analysis of common copy-number variations in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

A high-resolution survey of deletion polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Common deletions and SNPs are in linkage disequilibrium in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Common deletion polymorphisms in the human genome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Germ-line DNA copy number variation frequencies in a large North American population

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Fine-scale structural variation of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Recombination hotspot in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Genomic organization and evolution of the NF1 microdeletion region.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Molecular mechanisms for genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Genome architecture, rearrangements and genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Segmental duplications and the evolution of the primate genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021

Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202002

7 January 2021