(Q34599654)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17211639%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation (English)

1 reference

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24 December 2019

0 references

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24 December 2019

1 reference

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24 December 2019

1 reference

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24 December 2019

Hans-Hilger Ropers

1 reference

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24 December 2019

Merete Bugge

1 reference

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24 December 2019

Erik Niebuhr

1 reference

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24 December 2019

Luitgard M Neumann

1 reference

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24 December 2019

Andreas Tzschach

1 reference

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24 December 2019

Sarah A Shoichet

1 reference

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24 December 2019

Corinna Menzel

1 reference

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24 December 2019

Fikret Erdogan

1 reference

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24 December 2019

Ger Arkesteijn

1 reference

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24 December 2019

Reinhard Ullmann

1 reference

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24 December 2019

publication date

9 January 2007

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24 December 2019

1 reference

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24 December 2019

volume

121

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24 December 2019

issue

3-4

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24 December 2019

page(s)

501-509

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Krüppel-like zinc-finger transcription factor KLF5/BTEB2 is a target for angiotensin II signaling and an essential regulator of cardiovascular remodeling

24 December 2019

cites work

1 reference

12 December 2020

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

1 reference

12 December 2020

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

1 reference

12 December 2020

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

1 reference

12 December 2020

A new method for the preparation of metaphase chromosomes for flow analysis

1 reference

12 December 2020

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).

1 reference

12 December 2020

Genetics and pathophysiology of mental retardation

1 reference

12 December 2020

A bacterial artificial chromosome library for sequencing the complete human genome

1 reference

12 December 2020

X-linked mental retardation: many genes for a complex disorder

1 reference

12 December 2020

Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

1 reference

12 December 2020

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

1 reference

12 December 2020

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

1 reference

12 December 2020

Cloning and analysis of murine cDNA that encodes a fibrogenic lymphokine, fibrosin

1 reference

12 December 2020

Haploinsufficiency of NSD1 causes Sotos syndrome

1 reference

12 December 2020

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

1 reference

12 December 2020

Reverse chromosome painting for the identification of marker chromosomes and complex translocations in leukemia

1 reference

12 December 2020

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

1 reference

12 December 2020

X-linked mental retardation

1 reference

12 December 2020

Twins with autism and mental retardation associated with balanced (7;20) chromosomal translocation

1 reference

12 December 2020

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

1 reference

12 December 2020

CGHPRO -- a comprehensive data analysis tool for array CGH.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

1 reference

12 December 2020

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

1 reference

12 December 2020

A tiling resolution DNA microarray with complete coverage of the human genome

1 reference

12 December 2020

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

1 reference

12 December 2020

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly

1 reference

12 December 2020

A set of BAC clones spanning the human genome

1 reference

12 December 2020

Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype

1 reference

12 December 2020

Molecular and comparative genetics of mental retardation

1 reference

12 December 2020

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

1 reference

12 December 2020

A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes

1 reference

12 December 2020

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

1 reference

12 December 2020

Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro

1 reference

12 December 2020

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins

1 reference

12 December 2020

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

1 reference

12 December 2020

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

1 reference

12 December 2020