(Q45340629)

13 December 2017

title

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

10

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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

1

object named as

Alexander Hoischen

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13 December 2017

22

Han G Brunner

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13 December 2017

2

Bregje W M van Bon

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13 December 2017

6

Marloes Steehouwer

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13 December 2017

9

Nienke Wieskamp

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13 December 2017

11

Koen Devriendt

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13 December 2017

8

Rick de Reuver

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13 December 2017

Bart van Lier

5

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13 December 2017

Petra de Vries

7

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13 December 2017

Marta Z Amorim

12

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13 December 2017

Nicole Revencu

13

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13 December 2017

Alexa Kidd

14

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13 December 2017

Mafalda Barbosa

15

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13 December 2017

Anne Turner

16

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13 December 2017

Janine Smith

17

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13 December 2017

Christina Oley

18

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13 December 2017

Alex Henderson

19

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13 December 2017

Ian M Hayes

20

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13 December 2017

Elizabeth M Thompson

21

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13 December 2017

Bert B A de Vries

23

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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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13 December 2017

volume

42

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13 December 2017

issue

6

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13 December 2017

page(s)

483-485

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

13 December 2017

cites work

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

1 reference

Dimensions Publication ID

13 December 2017

1021369761

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1 reference