(Q55510851)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author

Gema Castañeda Cisneros

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author name string

L E Becerra-Solano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

J Butler

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

D E McCloskey

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

X Wang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

A E Pegg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

C E Schwartz

7

1 reference

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21 January 2020

J Sánchez-Corona

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

J E García-Ortiz

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

language of work or name

English

0 references

publication date

1 March 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

21 January 2020

published in

1 reference

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21 January 2020

volume

149A

1 reference

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21 January 2020

issue

3

1 reference

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21 January 2020

page(s)

328-335

1 reference

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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

21 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

Effect of spermine synthase on the sensitivity of cells to anti-tumour agents

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

Crystal Structure of Human Spermine Synthase: IMPLICATIONS OF SUBSTRATE BINDING AND CATALYTIC MECHANISM

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

X-linked mental retardation with the fragile X. A study of 15 families

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653108

A new psychomotor retardation syndrome with peculiar facies and marfanoid habitus

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19206178

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.32641

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206178%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference