(Q24338502)

GOA release 2020-03-11

regulation of behavior

1 reference

GOA release 2020-03-11

22

J F Gusella

0 references

author name string

J C Hodge

1

0 references

E Mitchell

2

0 references

V Pillalamarri

3

0 references

T L Toler

4

0 references

F Bartel

5

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H M Kearney

6

0 references

Y S Zou

7

0 references

W H Tan

8

0 references

C Hanscom

9

0 references

S Kirmani

10

0 references

R R Hanson

11

0 references

S A Skinner

12

0 references

R C Rogers

13

0 references

D B Everman

14

0 references

E Boyd

15

0 references

C Tapp

16

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S V Mullegama

17

0 references

D Keelean-Fuller

18

0 references

C M Powell

19

0 references

S H Elsea

20

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C C Morton

21

0 references

B DuPont

23

0 references

A Chaubey

24

0 references

A E Lin

25

0 references

M E Talkowski

Rett syndrome: revised diagnostic criteria and nomenclature

26

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language of work or name

English

0 references

publication date

March 2014

0 references

published in

Molecular Psychiatry

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volume

19

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issue

3

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page(s)

368-79

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Fast and accurate short read alignment with Burrows-Wheeler transform

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1170536

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

de Lange syndrome: a clinical review of 310 individuals

24 March 2017

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Association between microdeletion and microduplication at 16p11.2 and autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Functional impact of global rare copy number variation in autism spectrum disorders

7 April 2017

1 reference

https://api.crossref.org/works/10.1038/MP.2013.42

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/MP.2013.42

Role of TBX1 in human del22q11.2 syndrome

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/MP.2013.42

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Development, cognition, and behaviour in Pitt-Hopkins syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Update on Kleefstra Syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

27 September 2017

Pitt-Hopkins Syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Systematic review of the clinical and genetic aspects of Prader-Willi syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Clinical and genetic aspects of Angelman syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

DNA methylation and methyl-CpG binding proteins: developmental requirements and function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

The chromosome 9q subtelomere deletion syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Rett syndrome: model of neurodevelopmental disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Diagnostic genome profiling in mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Ophthalmic manifestations of Smith-Magenis syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Ophthalmologic Features of Prader-Willi Syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

Use of array-based technology in the practice of medical genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

Adaptive and maladaptive behavior in children with Smith-Magenis Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

Ophthalmologic findings in the Cornelia de Lange Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

High incidence of hip dysplasia but not slipped capital femoral epiphysis in patients with Prader-Willi syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Ophthalmologic findings in the Cornelia de Lange syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4756476

Ophthalmic findings in Angelman syndrome

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23587880

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Physical health problems in adults with Prader-Willi syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23587880

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic variability of atypical 22q11.2 deletions not including TBX1

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.42

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/MP.2013.42

1 reference

Dimensions Publication ID

1011080440

0 references

Fatcat ID

release_rhbty5w43zcjbnscc7bg52vxbi

0 references

1 reference

1 reference

PubMed publication ID

23587880

1 reference