(Q45340629)

13 December 2017

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome (English)

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13 December 2017

3

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13 December 2017

Geert Mortier

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Peer Arts

object named as

Peer Arts

4

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Joris A Veltman

object named as

Joris A Veltman

24

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Alexander Hoischen

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object named as

Alexander Hoischen

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13 December 2017

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Han G Brunner

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Bregje W M van Bon

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13 December 2017

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Marloes Steehouwer

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13 December 2017

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Nienke Wieskamp

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Koen Devriendt

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Rick de Reuver

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13 December 2017

Bart van Lier

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Petra de Vries

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Marta Z Amorim

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Nicole Revencu

13

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13 December 2017

Alexa Kidd

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13 December 2017

Mafalda Barbosa

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13 December 2017

Anne Turner

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13 December 2017

Janine Smith

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Christina Oley

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13 December 2017

Alex Henderson

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Ian M Hayes

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Elizabeth M Thompson

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13 December 2017

Bert B A de Vries

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13 December 2017

language of work or name

English

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publication date

2 May 2010

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13 December 2017

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483-485

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https://scigraph.springernature.com/pub.10.1038/ng.581

13 December 2017

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cites work

A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

1 reference

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

21 January 2018

1 reference

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

Massively parallel sequencing of ataxia genes after array-based enrichment

21 January 2018

1 reference

Noonan syndrome and related disorders: genetics and pathogenesis

21 January 2018

1 reference

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

21 January 2018

1 reference

A gene atlas of the mouse and human protein-encoding transcriptomes

21 January 2018

1 reference

SET-domain proteins of the Su(var)3-9, E(z) and trithorax families

21 January 2018

1 reference

There are two major types of skeletal keratan sulphates

21 January 2018

1 reference

Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET

21 January 2018

1 reference

Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).

21 January 2018

1 reference

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

21 January 2018

1 reference

Chick cartilage chondroitin sulfate proteoglycan core protein. I. Generation and characterization of peptides and specificity for glycosaminoglycan attachment.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20436468

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.581

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Dimensions Publication ID

13 December 2017

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