(Q33787286)

29 July 2017

1 reference

title

Molecular mechanisms for CMT1A duplication and HNPP deletion (English)

1 reference

29 July 2017

Boerkoel CF

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29 July 2017

Inoue K

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29 July 2017

Reiter LT

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29 July 2017

Warner LE

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29 July 2017

Lupski JR

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29 July 2017

language of work or name

English

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publication date

1 September 1999

1 reference

Annals of the New York Academy of Sciences

29 July 2017

published in

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29 July 2017

volume

883

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29 July 2017

page(s)

22-35

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De-novo mutation in hereditary motor and sensory neuropathy type I.

29 July 2017

cites work

1 reference

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The phenotypic manifestations of chromosome 17p11.2 duplication

21 January 2018

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Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.

21 January 2018

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

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Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

21 January 2018

1 reference

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Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

21 January 2018

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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

21 January 2018

1 reference

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Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

21 January 2018

1 reference

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Molecular evolution of the second ancient human mariner transposon, Hsmar2, illustrates patterns of neutral evolution in the human genome lineage

21 January 2018

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Substrate length requirements for efficient mitotic recombination in Saccharomyces cerevisiae

21 January 2018

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Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

21 January 2018

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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

21 January 2018

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Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

21 January 2018

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Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.

21 January 2018

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The Charcot–Marie–Tooth Binary Repeat Contains a Gene Transcribed from the Opposite Strand of a Partially Duplicated Region of theCOX10Gene

21 January 2018

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Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

21 January 2018

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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

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Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.

21 January 2018

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Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

21 January 2018

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Trembler mouse carries a point mutation in a myelin gene

21 January 2018

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A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

21 January 2018

1 reference

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Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

21 January 2018

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Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

21 January 2018

1 reference

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Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.

21 January 2018

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Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.

21 January 2018

1 reference

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Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

21 January 2018

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Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

21 January 2018

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

21 January 2018

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Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

21 January 2018

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The mechanisms involved in formation of deletions and duplications of 15q11-q13.

21 January 2018

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Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization

21 January 2018

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Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase

21 January 2018

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A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

21 January 2018

1 reference

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Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

21 January 2018

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Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

21 January 2018

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Molecular genetics of inherited variation in human color vision

21 January 2018

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The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions

21 January 2018

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Molecular basis of human growth hormone gene deletions

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats

21 January 2018

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

21 January 2018

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WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour

21 January 2018

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

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Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

21 January 2018

1 reference

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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

Mutation analysis of UBE3A in Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

A novel α-globin gene arrangement in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08563.X

10.1111/J.1749-6632.1999.TB08563.X

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference