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Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery

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Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery

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title

Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery (English)

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John M. Opitz

John M

Opitz

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PubMed publication ID

7 February 2023

Giovanni Neri

1

Giovanni

Neri

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PubMed publication ID

19921741

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7 February 2023

language of work or name

English

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publication date

December 2009

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American Journal of Medical Genetics Part A

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volume

149A

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issue

12

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page(s)

2647-2654

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cites work

Down syndrome—a disruption of homeostasis

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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7 January 2021

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Setting a public health research agenda for Down syndrome: summary of a meeting sponsored by the Centers for Disease Control and Prevention and the National Down Syndrome Society.

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https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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7 January 2021

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The somatic chromosomes in mongolism

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https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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7 January 2021

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Chromosome 21 and down syndrome: from genomics to pathophysiology

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7 January 2021

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Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

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https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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7 January 2021

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The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

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https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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7 January 2021

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Down syndrome phenotypes: the consequences of chromosomal imbalance

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Crossref

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https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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7 January 2021

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2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics"

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https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy

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https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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7 January 2021

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Mongolian idiocy (mongolism) and maternal age

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https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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7 January 2021

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A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

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reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33138

retrieved

7 January 2021

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Maternal age in familial mongolism

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https://api.crossref.org/works/10.1002%2FAJMG.A.33138

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7 January 2021

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Identifiers

DOI

10.1002/AJMG.A.33138

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Fatcat ID

release_i35bc6qvsrektd7oxb7sge4nsi

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PubMed publication ID

19921741

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(Q22252953)

Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery

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