(Q35899350)

11 August 2017

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations (English)

1 reference

11 August 2017

0 references

1 reference

intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

15

Björn Menten

1 reference

11 August 2017

Ali Rihani

6

0 references

Bart L Loeys

Bart Loeys

7

0 references

Geert Mortier

Geert Mortier

14

0 references

Elke Van Oudenhove

Elke Van Oudenhove

4

0 references

Sarah Vergult

Sarah Vergult

1

0 references

Joel Hirschhorn

8

Joel Hirschhorn

1 reference

11 August 2017

Andrew Dauber

2

1 reference

11 August 2017

Barbara Delle Chiaie

3

1 reference

11 August 2017

Marleen Simon

5

1 reference

11 August 2017

Jean Pfotenhauer

9

1 reference

11 August 2017

John A Phillips

10

1 reference

11 August 2017

Shehla Mohammed

11

1 reference

11 August 2017

Caroline Ogilvie

12

1 reference

11 August 2017

John Crolla

13

1 reference

11 August 2017

14 December 2011

1 reference

European Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

20

1 reference

11 August 2017

5

1 reference

11 August 2017

534-539

1 reference

Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

PRKCA: a positional candidate gene for body mass index and asthma

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Increased LIS1 expression affects human and mouse brain development

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

The fifth female patient with Myhre syndrome: further delineation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Large deletions of the PRKAR1A gene in Carney complex

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Global variation in copy number in the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Identification of a genetic cluster influencing memory performance and hippocampal activity in humans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Importin KPNA2 is required for proper nuclear localization and multiple functions of NBS1.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Dual functional roles of dentin matrix protein 1. Implications in biomineralization and gene transcription by activation of intracellular Ca2+ store

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

A new case of Myhre syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

The Myhre syndrome: report of two cases.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Protein kinase C: structure, function, and regulation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Interstitial deletion of (17)(p11.2p11.2) in nine patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

CACNA1H mutations in autism spectrum disorders.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Second female case of Myhre syndrome.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Deletion of dentin matrix protein-1 leads to a partial failure of maturation of predentin into dentin, hypomineralization, and expanded cavities of pulp and root canal during postnatal tooth development

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Myhre syndrome: first female case.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Myhre syndrome: new reports, review, and differential diagnosis.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Case of Myhre syndrome with autism and peculiar skin histological findings.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Campomelic syndrome and deletion of SOX9.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

A new syndrome of short stature, joint limitation and muscle hypertrophy.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330218

Early treatment of HIV infection

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.239

A new growth deficiency syndrome

21 January 2018

1 reference

12 December 2020

Partial duplication of distal 17q

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Myhre's syndrome in a girl with normal intelligence

1 reference

12 December 2020

Clinical and molecular genetics of Carney complex

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.239

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22166941

1 reference