(Q47151407)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome (English)

1 reference

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19 March 2020

6

1 reference

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19 March 2020

Craig Lygate

29

1 reference

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19 March 2020

author name string

J Zak

1

1 reference

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19 March 2020

V Vives

2

1 reference

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19 March 2020

D Szumska

3

1 reference

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19 March 2020

A Vernet

4

1 reference

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19 March 2020

J E Schneider

5

1 reference

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19 March 2020

E A Slee

7

1 reference

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19 March 2020

S Joss

8

1 reference

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19 March 2020

Y Lacassie

9

1 reference

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19 March 2020

E Chen

10

1 reference

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19 March 2020

L F Escobar

11

1 reference

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19 March 2020

M Tucker

12

1 reference

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19 March 2020

A S Aylsworth

13

1 reference

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19 March 2020

H A Dubbs

14

1 reference

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19 March 2020

A T Collins

15

1 reference

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19 March 2020

J Andrieux

16

1 reference

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19 March 2020

A Dieux-Coeslier

17

1 reference

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19 March 2020

E Haberlandt

18

1 reference

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19 March 2020

D Kotzot

19

1 reference

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19 March 2020

D A Scott

20

1 reference

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19 March 2020

M J Parker

21

1 reference

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19 March 2020

Z Zakaria

22

1 reference

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19 March 2020

Y S Choy

23

1 reference

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19 March 2020

D Wieczorek

24

1 reference

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19 March 2020

A M Innes

25

1 reference

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19 March 2020

K R Jun

26

1 reference

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19 March 2020

S Zinner

27

1 reference

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19 March 2020

F Prin

28

1 reference

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19 March 2020

P Pretorius

30

1 reference

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19 March 2020

J A Rosenfeld

31

1 reference

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19 March 2020

T J Mohun

32

1 reference

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19 March 2020

X Lu

33

1 reference

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19 March 2020

publication date

22 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

Cell Death & Differentiation

19 March 2020

published in

1 reference

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19 March 2020

volume

23

1 reference

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19 March 2020

page(s)

1973-1984

1 reference

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19 March 2020

issue

12

1 reference

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https://scigraph.springernature.com/pub.10.1038/cdd.2016.76

19 March 2020

exact match

0 references

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

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Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

23 May 2018

1 reference

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15 August 2018

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15 August 2018

1 reference

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New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

15 August 2018

1 reference

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Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Are encephaloceles neural tube defects?

15 August 2018

1 reference

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High-frequency developmental abnormalities in p53-deficient mice.

15 August 2018

1 reference

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Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FCDD.2016.76

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FCDD.2016.76

Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes

21 January 2018

1 reference

12 December 2020

Chromosomal map of human brain malformations

1 reference

12 December 2020

A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12

1 reference

12 December 2020

Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han population

1 reference

12 December 2020

FBXO28is a critical gene of the 1q41q42 microdeletion syndrome

1 reference

12 December 2020

A subset of p53-deficient embryos exhibit exencephaly

1 reference

12 December 2020

A new episcopic method for rapid 3-D reconstruction: applications in anatomy and embryology

1 reference

12 December 2020

Identifiers

DOI

10.1038/CDD.2016.76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

release_ao2d773nebhircda6bcol3x2yu

19 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ao2d773nebhircda6bcol3x2yu

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference