(Q29614721)

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

author name string

Stankiewicz P

series ordinal

1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

Lupski JR

series ordinal

2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

language of work or name

1 reference

30 April 2017

publication date

February 2002

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

volume

18

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

issue

2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

30 April 2017

page(s)

74-82

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11818139

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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

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Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism

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7 January 2021

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

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7 January 2021

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

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7 January 2021

Sequence Variability of a Human Pseudogene

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7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

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7 January 2021

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

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The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

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7 January 2021

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7 January 2021

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7 January 2021

A common molecular basis for rearrangement disorders on chromosome 22q11

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7 January 2021

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

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7 January 2021

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

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7 January 2021

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

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7 January 2021

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

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7 January 2021

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

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7 January 2021

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

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7 January 2021

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

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7 January 2021

Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events

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7 January 2021

Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses

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7 January 2021

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

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7 January 2021

Contiguous gene syndromes: a component of recognizable syndromes

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7 January 2021

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

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7 January 2021

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

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7 January 2021

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

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7 January 2021

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

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7 January 2021

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay

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7 January 2021

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

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7 January 2021

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

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7 January 2021

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

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7 January 2021

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).

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7 January 2021

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

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7 January 2021

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

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7 January 2021

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome

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7 January 2021

The complete human olfactory subgenome

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7 January 2021

Recent duplication, domain accretion and the dynamic mutation of the human genome

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7 January 2021

BACking up the promises

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7 January 2021