(Q80182867)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18074101%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome (English)

1 reference

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29 December 2019

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8

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29 December 2019

author name string

Sheng-Wen Shaw

1

1 reference

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29 December 2019

Chih-Ping Chen

2

1 reference

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29 December 2019

Po-Jen Cheng

3

1 reference

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29 December 2019

Tzu-Hao Wang

4

1 reference

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29 December 2019

Jia-Woei Hou

5

1 reference

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29 December 2019

Cheng-Tao Lin

6

1 reference

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29 December 2019

Shuenn-Dhy Chang

7

1 reference

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29 December 2019

Ju-Li Lin

9

1 reference

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29 December 2019

An-Shine Chao

10

1 reference

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29 December 2019

Yung-Kuei Soong

11

1 reference

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29 December 2019

Fon-Jou Hsieh

12

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29 December 2019

publication date

12 December 2007

1 reference

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Journal of Human Genetics

29 December 2019

published in

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29 December 2019

volume

53

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29 December 2019

issue

2

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29 December 2019

page(s)

136-143

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https://scigraph.springernature.com/pub.10.1007/s10038-007-0229-z

29 December 2019

exact match

0 references

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Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter.

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The TPTE gene family: cellular expression, subcellular localization and alternative splicing

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12 December 2020

Identification of DNA sequences flanking the breakpoint of human t(14q21q) Robertsonian translocations

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12 December 2020

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

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12 December 2020

Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study.

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12 December 2020

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12 December 2020

Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances

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12 December 2020

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal

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12 December 2020

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

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12 December 2020

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations

1 reference

12 December 2020

Prenatal diagnosis of de novo interstitial 2q14.2-2q21.3 deletion assisted by array-based comparative genomic hybridization: a case report

1 reference

12 December 2020

Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations

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12 December 2020

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

1 reference

12 December 2020

Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome

1 reference

12 December 2020

Down syndrome phenotypes: the consequences of chromosomal imbalance

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12 December 2020

Parental origin and timing of de novo Robertsonian translocation formation

1 reference

12 December 2020

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

1 reference

12 December 2020

Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation

1 reference

12 December 2020

Parental origin determination in thirty de novo Robertsonian translocations

1 reference

12 December 2020

Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction

1 reference

12 December 2020

Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.

1 reference

12 December 2020

De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

1 reference

12 December 2020

Random acrocentric bivalent associations in human pachytene spermatocytes. Molecular implications in the occurrence of Robertsonian translocations

1 reference

12 December 2020

Robertsonian metacentrics of the house musk shrew (Suncus murinus, Insectivora, Soricidae) lose the telomeric sequences in the centromeric area

1 reference

12 December 2020

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

1 reference

12 December 2020

Assembly of microarrays for genome-wide measurement of DNA copy number

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12 December 2020

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas

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12 December 2020

The effect of Robertsonian translocation on recombination on chromosome 21

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12 December 2020

Finishing the euchromatic sequence of the human genome

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12 December 2020

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

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12 December 2020

Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists

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12 December 2020

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12 December 2020

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

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12 December 2020

Nonhomologous recombination in mammalian cells: role for short sequence homologies in the joining reaction

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12 December 2020

Genome-wide analysis of DNA copy-number changes using cDNA microarrays

1 reference

12 December 2020

Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations

1 reference

12 December 2020

10.1007/S10038-007-0229-Z

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18074101%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference