(Q36370746)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

28

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

20

Han G Brunner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

24

Richard A Gibbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

23

Donna M Muzny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

25

Christine M Eng

1 reference

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1 March 2020

30

Yaping Yang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

6

Dorien Lugtenberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

29

Ernie M H F Bongers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

19

Lisenka E L M Vissers

1 reference

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1 March 2020

27

Seema R Lalani

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

7

Wenmiao Zhu

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

22

Jill A Rosenfeld

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

11

Gladys Zapata

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

18

Nicholas Katsanis

1 reference

1 March 2020

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3

Mohammad K Eldomery

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

17

Shalini Jhangiani

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

8

Magalie S Leduc

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

Lindsay C Burrage

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Wu-Lin Charng

2

1 reference

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1 March 2020

Jason R Willer

4

1 reference

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1 March 2020

Erica E Davis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Zeynep C Akdemir

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Mahshid Azamian

10

1 reference

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1 March 2020

Patricia P Hernandez

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jeroen Schoots

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Sonja A de Munnik

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Ronald Roepman

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Arthur L Beaudet

21

1 reference

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1 March 2020

Fan Xia

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

language of work or name

English

0 references

publication date

1 December 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

97

1 reference

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1 March 2020

issue

6

1 reference

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1 March 2020

page(s)

904-913

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

An inactive geminin mutant that binds cdt1

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Single-molecule studies of origin licensing reveal mechanisms ensuring bidirectional helicase loading

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Molecular findings among patients referred for clinical whole-exome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

The world's tallest nation has stopped growing taller: the height of Dutch children from 1955 to 2009.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

MutationTaster evaluates disease-causing potential of sequence alterations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

A SNP discovery method to assess variant allele probability from next-generation resequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Continuous growth reference from 24th week of gestation to 24 months by gender

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Growth reference centiles and secular changes in Turkish children and adolescents

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

ESEfinder: A web resource to identify exonic splicing enhancers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Inhibition of eukaryotic DNA replication by geminin binding to Cdt1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

The Cdt1 protein is required to license DNA for replication in fission yeast

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Geminin, an inhibitor of DNA replication, is degraded during mitosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

A DNA helicase activity is associated with an MCM4, -6, and -7 protein complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Loading of an Mcm protein onto DNA replication origins is regulated by Cdc6p and CDKs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

ATP-dependent recognition of eukaryotic origins of DNA replication by a multiprotein complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Malformation syndromes. A selected miscellany

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Cell type-specific responses of human cells to inhibition of replication licensing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

New Dutch reference curves for birthweight by gestational age.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

[Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome).]

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

Yeast origin recognition complex is involved in DNA replication and transcriptional silencing.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678788

10.1016/J.AJHG.2015.11.006

5 December 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

release_rjovqcorabfe3nhshk6vusk5zi

1 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rjovqcorabfe3nhshk6vusk5zi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26637980%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference