(Q37634108)

21 August 2017

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication (English)

1 reference

21 August 2017

1 reference

William B Burnette

10

0 references

Feng Zhang

object named as

Feng Zhang

3

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Avi Orr-Urtreger

13

object named as

Avi Orr-Urtreger

1 reference

21 August 2017

14

James R Lupski

1 reference

21 August 2017

9

Christina DiVincenzo

1 reference

21 August 2017

6

Erin Roney

1 reference

21 August 2017

7

Adam C Medeiros

1 reference

21 August 2017

Pengfei Liu

1

1 reference

21 August 2017

Violet Gelowani

2

1 reference

21 August 2017

Vivian E Drory

4

1 reference

21 August 2017

Shay Ben-Shachar

5

1 reference

21 August 2017

Rebecca J Moore

8

1 reference

21 August 2017

Joseph J Higgins

11

1 reference

21 August 2017

Jun Li

12

1 reference

21 August 2017

language of work or name

English

0 references

publication date

13 February 2014

1 reference

American Journal of Human Genetics

21 August 2017

1 reference

21 August 2017

94

1 reference

21 August 2017

3

1 reference

21 August 2017

462-469

1 reference

Genetics. Genome mosaicism--one human, multiple genomes

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Clan genomics and the complex architecture of human disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Increased LIS1 expression affects human and mouse brain development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Genomic investigation of alpha-synuclein multiplication and parkinsonism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Genomic rearrangements and sporadic disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

The Effects of Unequal Crossing over at the Bar Locus in Drosophila

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Microduplication and triplication of 22q11.2: a highly variable syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

alpha-Synuclein locus triplication causes Parkinson's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Intrachromosomal triplication of 15q11-q13.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Identification of a different-type homeobox gene, BarH1, possibly causing Bar (B) and Om(1D) mutations in Drosophila.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

A Further Study of the so-Called Mutation at the Bar Locus of Drosophila.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951935

The clinical features of hereditary motor and sensory neuropathy types I and II

1 September 2018

1 reference

12 December 2020

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

12 December 2020

REVERSE MUTATION OF THE BAR GENE CORRELATED WITH CROSSING OVER

1 reference

12 December 2020

Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication

1 reference

12 December 2020

Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine,

1 reference

12 December 2020

THE BAR "GENE" A DUPLICATION

1 reference

12 December 2020

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1 reference

12 December 2020

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

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis

1 reference

12 December 2020

Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication

1 reference

12 December 2020

10.1016/J.AJHG.2014.01.017

Identifiers

DOI

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24530202

1 reference