HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1476-5438

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients ; volume:26 ; number:1 ; day:27 ; month:11 ; year:2017 ; pages:64-74 ; date:1.2018
European journal of human genetics ; 26, Heft 1 (27.11.2017), 64-74, 1.2018

Creator: Moortgat, Stéphanie

Contributor: Berland, Siren
Aukrust, Ingvild
Maystadt, Isabelle
Baker, Laura
Benoit, Valerie
Caro-Llopis, Alfonso
Cooper, Nicola S.
Debray, François-Guillaume
Faivre, Laurence
Gardeitchik, Thatjana
Haukanes, Bjørn I.
Houge, Gunnar
Kivuva, Emma
Martinez, Francisco
Mehta, Sarju G.
Nassogne, Marie-Cécile
Powell-Hamilton, Nina
Pfundt, Rolph
Rosello, Monica
Prescott, Trine
Vasudevan, Pradeep
van Loon, Barbara
Verellen-Dumoulin, Christine
Verloes, Alain
Lippe, Charlotte von der
Wakeling, Emma
Wilkie, Andrew O. M.
Wilson, Louise
Yuen, Amy
Study, DDD
Low, Karen J.
Newbury-Ecob, Ruth A.
SpringerLink (Online service)

DOI: 10.1038/s41431-017-0038-6

URN: urn:nbn:de:1111-2018041617341

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:57 AM CEST

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Associated

Moortgat, Stéphanie
Berland, Siren
Aukrust, Ingvild
Maystadt, Isabelle
Baker, Laura
Benoit, Valerie
Caro-Llopis, Alfonso
Cooper, Nicola S.
Debray, François-Guillaume
Faivre, Laurence
Gardeitchik, Thatjana
Haukanes, Bjørn I.
Houge, Gunnar
Kivuva, Emma
Martinez, Francisco
Mehta, Sarju G.
Nassogne, Marie-Cécile
Powell-Hamilton, Nina
Pfundt, Rolph
Rosello, Monica
Prescott, Trine
Vasudevan, Pradeep
van Loon, Barbara
Verellen-Dumoulin, Christine
Verloes, Alain
Lippe, Charlotte von der
Wakeling, Emma
Wilkie, Andrew O. M.
Wilson, Louise
Yuen, Amy
Study, DDD
Low, Karen J.
Newbury-Ecob, Ruth A.
SpringerLink (Online service)

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

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Other Objects (12)

X-linked intellectual disability related to a novel variant of KLHL15

Autosomal dominant intellectual disability

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Development and validation of a multiplex-PCR assay for X-linked intellectual disability

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Role of RNF113A in ribosomal performance and X-linked dominant trichothiodystrophy

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

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X-linked intellectual disability related to a novel variant of KLHL15

Autosomal dominant intellectual disability

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Development and validation of a multiplex-PCR assay for X-linked intellectual disability

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Role of RNF113A in ribosomal performance and X-linked dominant trichothiodystrophy

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

X-linked intellectual disability related to a novel variant of KLHL15

Autosomal dominant intellectual disability

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Development and validation of a multiplex-PCR assay for X-linked intellectual disability

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Role of RNF113A in ribosomal performance and X-linked dominant trichothiodystrophy

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

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