(Q52090329)

22 April 2018

title

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. (English)

1 reference

22 April 2018

Xavier Estivill i Pallejà

author

8

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22 April 2018

Chad Shaw

object named as

Chad A Shaw

5

0 references

James R. Lupski

9

object named as

James R Lupski

1 reference

22 April 2018

Pawel Stankiewicz

2

object named as

Pawel Stankiewicz

1 reference

22 April 2018

author name string

Christine J Shaw

1

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22 April 2018

Gabriel Bien-Willner

3

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22 April 2018

Scott C Bello

4

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22 April 2018

Marta Carrera

6

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22 April 2018

Luis Perez Jurado

7

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22 April 2018

publication date

20 April 2004

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22 April 2018

published in

Human Genetics

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22 April 2018

volume

115

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22 April 2018

issue

1

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22 April 2018

page(s)

1-7

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22 April 2018

https://scigraph.springernature.com/pub.10.1007/s00439-004-1119-5

exact match

0 references

cites work

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De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

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Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

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De novo tandem duplication 17p11 leads to cen.

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Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA.

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

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Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies

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De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

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A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome.

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12 December 2020

Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization.

1 reference

12 December 2020

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

1 reference

12 December 2020

Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome

1 reference

12 December 2020

Identification of a supernumerary marker derived from chromosome 17 using FISH.

1 reference

12 December 2020

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

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

1 reference

12 December 2020

Mutations in RAI1 associated with Smith-Magenis syndrome.

1 reference

12 December 2020

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

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Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation.

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FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

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Mild phenotype due to tandem duplication of l7p11.2.

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CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

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Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker

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Forty four probands with an additional "marker" chromosome.

1 reference

12 December 2020

Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?

1 reference

12 December 2020

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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Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

12 December 2020

A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.

1 reference

12 December 2020

De novo duplication of 17p [dup(17)(p12→p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects

1 reference

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A girl with duplication 17p10-p12 associated with a dicentric chromosome.

1 reference

12 December 2020

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

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Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy

1 reference

12 December 2020

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

1 reference

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Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.

1 reference

12 December 2020

10.1007/S00439-004-1119-5

Identifiers

DOI

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22 April 2018

PubMed ID

15098121

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22 April 2018