(Q38197420)

30 August 2017

title

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities (English)

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disability affecting intellectual abilities

30 August 2017

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intellectual disability

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10

Cédric Le Caignec

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author name string

Toshiyuki Yamamoto

1

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30 August 2017

Anna Wilsdon

2

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30 August 2017

Shelagh Joss

3

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30 August 2017

Bertrand Isidor

4

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30 August 2017

Anna Erlandsson

5

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30 August 2017

Mohnish Suri

6

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30 August 2017

Noriko Sangu

7

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30 August 2017

Shino Shimada

8

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30 August 2017

Keiko Shimojima

9

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30 August 2017

Lena Samuelsson

11

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30 August 2017

Margarita Stefanova

12

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30 August 2017

publication date

20 March 2014

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Journal of Human Genetics

30 August 2017

published in

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30 August 2017

volume

59

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30 August 2017

issue

6

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30 August 2017

page(s)

300-306

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Pelizaeus-Merzbacher disease as a chromosomal disorder

30 August 2017

cites work

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https://api.crossref.org/works/10.1038%2FJHG.2014.21

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2014.21

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Clinical and genetic characterization of manifesting carriers of DMD mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

MECP2 duplication syndrome in both genders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

TULIP1 (RALGAPA1) haploinsufficiency with brain development delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Characterization of the Bex gene family in humans, mice, and rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Neurotrophins: roles in neuronal development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

Neurotrophin signaling through the p75 neurotrophin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

The neurotrophin family of neurotrophic factors: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.21

21 January 2018

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12 December 2020

Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome

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12 December 2020

Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease

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12 December 2020

The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome

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12 December 2020

Identifiers

DOI

10.1038/JHG.2014.21

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Dimensions Publication ID

30 August 2017

1044448875

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