De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. (Q36370746)

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1 March 2020

title

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome (English)

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James R Lupski

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Han G Brunner

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Richard A Gibbs

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Donna M Muzny

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Christine M Eng

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Yaping Yang

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Dorien Lugtenberg

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Ernie M H F Bongers

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Lisenka E L M Vissers

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Seema R Lalani

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Wenmiao Zhu

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Jill A Rosenfeld

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Gladys Zapata

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Nicholas Katsanis

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Mohammad K Eldomery

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Shalini Jhangiani

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Magalie S Leduc

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Lindsay C Burrage

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Wu-Lin Charng

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Jason R Willer

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Erica E Davis

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Zeynep C Akdemir

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Mahshid Azamian

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Patricia P Hernandez

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Jeroen Schoots

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Sonja A de Munnik

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Ronald Roepman

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Arthur L Beaudet

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Fan Xia

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language of work or name

English

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publication date

1 December 2015

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American Journal of Human Genetics

1 March 2020

published in

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volume

97

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issue

6

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1 March 2020

page(s)

904-913

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An inactive geminin mutant that binds cdt1

1 March 2020

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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

30 September 2017

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Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

30 September 2017

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30 September 2017

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HBO1 histone acetylase activity is essential for DNA replication licensing and inhibited by Geminin

30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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The destruction box of human Geminin is critical for proliferation and tumor growth in human colon cancer cells

30 September 2017

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30 September 2017

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Meier-Gorlin syndrome: report of eight additional cases and review.

30 September 2017

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Repression of origin assembly in metaphase depends on inhibition of RLF-B/Cdt1 by geminin

30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

28 June 2018

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21 September 2018

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21 September 2018

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21 September 2018

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21 September 2018

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Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

21 September 2018

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10.1016/J.AJHG.2015.11.006

5 December 2018

Identifiers

DOI

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release_rjovqcorabfe3nhshk6vusk5zi

1 March 2020

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mapped directly with Wikidata item

24 November 2022

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1 March 2020

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