(Q33677104)

28 July 2017

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome (English)

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28 July 2017

13

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28 July 2017

29

Peter N Robinson

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Stefan Mundlos

28

Stefan Mundlos

1 reference

28 July 2017

Birgit Jonske de Condor

19

Birgit Jonske de Condor

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Christian Rödelsperger

3

Christian Rödelsperger

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Sebastian Köhler

Sebastian Köhler

16

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Martin Kerick

Martin Kerick

14

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Peter Krawitz

Peter M Krawitz

1

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Sebastian Bauer

10

Sebastian Bauer

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28 July 2017

21

Han G Brunner

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28 July 2017

26

Denise Horn

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28 July 2017

Michal R Schweiger

2

1 reference

28 July 2017

Christian Rödelsperger

3

1 reference

28 July 2017

Carlo Marcelis

4

1 reference

28 July 2017

Uwe Kölsch

5

1 reference

28 July 2017

Christian Meisel

6

1 reference

28 July 2017

Friederike Stephani

7

1 reference

28 July 2017

Taroh Kinoshita

8

1 reference

28 July 2017

Yoshiko Murakami

9

1 reference

28 July 2017

Melanie Isau

11

1 reference

28 July 2017

Axel Fischer

12

1 reference

28 July 2017

Jochen Hecht

15

1 reference

28 July 2017

Marten Jäger

17

1 reference

28 July 2017

Johannes Grünhagen

18

1 reference

28 July 2017

Birgit Jonske de Condor

19

1 reference

28 July 2017

Sandra Doelken

20

1 reference

28 July 2017

Peter Meinecke

22

1 reference

28 July 2017

Eberhard Passarge

23

1 reference

28 July 2017

Miles D Thompson

24

1 reference

28 July 2017

David E Cole

25

1 reference

28 July 2017

Tony Roscioli

27

1 reference

28 July 2017

language of work or name

English

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publication date

29 August 2010

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28 July 2017

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28 July 2017

42

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28 July 2017

827-829

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28 July 2017

10

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https://scigraph.springernature.com/pub.10.1038/ng.653

28 July 2017

0 references

cites work

Exome sequencing identifies the cause of a mendelian disorder

1 reference

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

Familial hyperphosphatasia with mental retardation, seizures, and neurologic deficits

21 January 2018

1 reference

Hyperphosphatasia with mental retardation.

21 January 2018

1 reference

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

21 January 2018

1 reference

Runs of homozygosity in European populations

21 January 2018

1 reference

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

21 January 2018

1 reference

Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings.

21 January 2018

1 reference

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

21 January 2018

1 reference

PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol

21 January 2018

1 reference

Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress

21 January 2018

1 reference

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

21 January 2018

1 reference

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

21 January 2018

1 reference

Developmental abnormalities of glycosylphosphatidylinositol-anchor-deficient embryos revealed by Cre/loxP system.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20802478

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.653

1 reference

28 July 2017

1 reference