(Q50684598)

17 March 2018

title

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes. (English)

1 reference

17 March 2018

author

Valentina Trapani

3

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17 March 2018

E Magda Price

7

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17 March 2018

Richard J Gibbons

8

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17 March 2018

Evica Rajcan-Separovic

18

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17 March 2018

Mark O'Driscoll

object named as

Mark O'Driscoll

15

0 references

Federica I Wolf

object named as

Federica I Wolf

16

0 references

Michael E Zwick

17

object named as

Michael E Zwick

1 reference

17 March 2018

author name string

Ying Qiao

1

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17 March 2018

Kajari Mondal

2

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17 March 2018

Jiadi Wen

4

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17 March 2018

Gillian Carpenter

5

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17 March 2018

Robert Wildin

6

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17 March 2018

Jennifer Eichmeyer

9

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17 March 2018

Ruby Jiang

10

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17 March 2018

Barbara DuPont

11

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17 March 2018

Sally Martell

12

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17 March 2018

Suzanne M E Lewis

13

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17 March 2018

Wendy P Robinson

14

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17 March 2018

publication date

1 January 2014

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17 March 2018

published in

Human Mutation

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17 March 2018

volume

35

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17 March 2018

issue

1

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17 March 2018

page(s)

58-62

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17 March 2018

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Molecular-clinical spectrum of the ATR-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Mutations in the chromatin-associated protein ATRX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Huntingtin-interacting proteins, HIP14 and HIP14L, mediate dual functions, palmitoyl acyltransferase and Mg2+ transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Fragile X and X-linked intellectual disability: four decades of discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Targeted sequencing of the human X chromosome exome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Loss of ATRX leads to chromosome cohesion and congression defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

Atopic dermatitis-like symptoms in HR-1 hairless mice fed a diet low in magnesium and zinc

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

inferred from DOI database lookup

7 January 2021

based on heuristic

MagT1: a highly specific magnesium channel with important roles beyond cellular magnesium homeostasis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22465

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22465

1 reference

17 March 2018

1 reference

17 March 2018