(Q35434557)

8 August 2017

title

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications (English)

1 reference

8 August 2017

Kotzot D

1

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8 August 2017

Martinez MJ

2

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8 August 2017

Bagci G

3

1 reference

8 August 2017

Basaran S

4

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8 August 2017

Baumer A

5

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8 August 2017

Binkert F

6

1 reference

8 August 2017

Brecevic L

7

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8 August 2017

Castellan C

8

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8 August 2017

Chrzanowska K

9

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8 August 2017

Dutly F

10

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8 August 2017

Gutkowska A

11

1 reference

8 August 2017

Karaüzüm SB

12

1 reference

8 August 2017

Krajewska-Walasek M

13

1 reference

8 August 2017

Luleci G

14

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8 August 2017

Miny P

15

1 reference

8 August 2017

Riegel M

16

1 reference

8 August 2017

Schuffenhauer S

17

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8 August 2017

Seidel H

18

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8 August 2017

Schinzel A

19

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8 August 2017

language of work or name

English

0 references

publication date

1 April 2000

1 reference

Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

37

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8 August 2017

issue

4

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8 August 2017

page(s)

281-286

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Syndromal obesity due to paternal duplication 6(q24.3-q27).

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734569

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734569

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734569

Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734569

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734569

The enigma of common fragile sites

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734569

Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734569

Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734569

Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21

7 December 2018

1 reference

12 December 2020

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

1 reference

12 December 2020

Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19

1 reference

12 December 2020

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

1 reference

12 December 2020

A paternally derived inverted duplication of 7q with evidence of a telomeric deletion

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.4.281

1 reference

release_ybi5tpfqerezrcs56xppllbtqm

8 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ybi5tpfqerezrcs56xppllbtqm

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1734569

1 reference

8 August 2017

1 reference