(Q54374377)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

title

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Emily Spencer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Andrea Shugar

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Minna Pöyhönen

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

14

Ludwine Messiaen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

author name string

Julia Davis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Fady Mikhail

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Chuanhua Fu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Raymon Vijzelaar

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Elaine H Zackai

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Holly Feret

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

M Stephen Meyn

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Kristina Kocsis

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Sirpa Kivirikko

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

language of work or name

English

0 references

publication date

5 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

30 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

volume

155A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

page(s)

1352-1359

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21548021%20AND%20SRC:MED&resulttype=core&format=json

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

30 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

Legius syndrome in fourteen families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

Rapid detection of VHL exon deletions using real-time quantitative PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

SPRED 1 mutations in a neurofibromatosis clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

MLPA and MAPH: new techniques for detection of gene deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

Mathematical model to predict regions of chromatin attachment to the nuclear matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33894