(Q42916354)

11 November 2017

Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil (English)

1 reference

11 November 2017

0 references

Koolen de Vries syndrome

1 reference

inferred from title

intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

Gustavo R Nascimento

1

1 reference

11 November 2017

Irene P Pinto

2

1 reference

11 November 2017

Aldaires V de Melo

3

1 reference

11 November 2017

Damiana M da Cruz

4

1 reference

11 November 2017

Cristiano L Ribeiro

5

1 reference

11 November 2017

Claudio C da Silva

6

1 reference

11 November 2017

Aparecido D da Cruz

7

1 reference

11 November 2017

Lysa B Minasi

8

1 reference

11 November 2017

24 February 2017

1 reference

11 November 2017

Molecular syndromology

1 reference

11 November 2017

8

1 reference

11 November 2017

3

1 reference

11 November 2017

155-160

1 reference

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

11 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Association analysis of polymorphisms of the CRHR1 gene with infantile spasms

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

A major role for Tau in neuronal DNA and RNA protection in vivo under physiological and hyperthermic conditions

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Complex phenotype associated with 17q21.31 microdeletion.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Tau-mediated neurodegeneration in Alzheimer's disease and related disorders

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448449

Monozygotic twins with 17q21.31 microdeletion syndrome

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28588437

12 December 2020

inferred from PubMed ID database lookup

17q21.31 microdeletion associated with infantile spasms

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28588437

12 December 2020

inferred from PubMed ID database lookup

Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28588437

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1159/000456910

1 reference

11 November 2017

1 reference

11 November 2017

PubMed publication ID

28588437

1 reference