(Q54765119)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123946%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

meta-analysis

0 references

title

Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123946%20AND%20SRC:MED&resulttype=core&format=json

neurodevelopmental disorder

27 February 2020

main subject

1 reference

1 reference

4

1 reference

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27 February 2020

author name string

Veerle De Wolf

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123946%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Nathalie Brison

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123946%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Koenraad Devriendt

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123946%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

language of work or name

English

0 references

publication date

10 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123946%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

27 February 2020

published in

1 reference

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27 February 2020

volume

161A

1 reference

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27 February 2020

issue

11

1 reference

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27 February 2020

page(s)

2846-2854

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123946%20AND%20SRC:MED&resulttype=core&format=json

15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features

27 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Prenatal counseling and the detection of copy-number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Polygenic inheritance and common diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Contactin 4 as an autism susceptibility locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

The genetics of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

GCP5 and GCP6: two new members of the human gamma-tubulin complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Estimates of penetrance for recurrent pathogenic copy-number variations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Understanding variable expressivity in microdeletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36209

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36209

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123946%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference