X-linked intellectual disability related genes disrupted by balanced X-autosome translocations (Q50606022)

16 March 2018

title

X-linked intellectual disability related genes disrupted by balanced X-autosome translocations (English)

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16 March 2018

X-linked intellectual disability

main subject

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disability affecting intellectual abilities

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based on heuristic

inferred from title

author name string

Mariana Moysés-Oliveira

1

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16 March 2018

Roberta Santos Guilherme

2

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16 March 2018

Vera Ayres Meloni

3

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16 March 2018

Adriana Di Battista

4

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16 March 2018

Claudia Berlim de Mello

5

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16 March 2018

Silvia Bragagnolo

6

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16 March 2018

Danilo Moretti-Ferreira

7

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16 March 2018

Nadezda Kosyakova

8

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16 March 2018

Thomas Liehr

9

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16 March 2018

Gianna Maria Carvalheira

10

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16 March 2018

Maria Isabel Melaragno

11

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16 March 2018

publication date

20 August 2015

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16 March 2018

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

published in

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16 March 2018

volume

168

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issue

8

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16 March 2018

page(s)

669-677

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16 March 2018

A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58

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Array painting using microdissected chromosomes to map chromosomal breakpoints

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IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

21 January 2018

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The X-linked intellectual disability protein TSPAN7 regulates excitatory synapse development and AMPAR trafficking

21 January 2018

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Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism

21 January 2018

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Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

21 January 2018

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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

21 January 2018

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IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation

21 January 2018

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The genetic landscape of intellectual disability arising from chromosome X.

21 January 2018

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Ultra-high resolution array painting facilitates breakpoint sequencing

21 January 2018

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Genevestigator v3: a reference expression database for the meta-analysis of transcriptomes

21 January 2018

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

21 January 2018

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

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Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

21 January 2018

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21 January 2018

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Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.

21 January 2018

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Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?

21 January 2018

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Prevalence of intellectual disability: a meta-analysis of population-based studies

21 January 2018

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Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations

21 January 2018

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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

21 January 2018

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

21 January 2018

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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

21 January 2018

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Genetics of Early Onset Cognitive Impairment

21 January 2018

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Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.

21 January 2018

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A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

21 January 2018

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Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

21 January 2018

1 reference

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The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2.

21 January 2018

1 reference

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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

21 January 2018

1 reference

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A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

21 January 2018

1 reference

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Putting proteins in their place: palmitoylation in Huntington disease and other neuropsychiatric diseases.

21 January 2018

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IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features

21 January 2018

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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32355

1 reference

16 March 2018

1 reference

16 March 2018